Please enable JavaScript
IKMB: Blood Group DB

Rh > RHCE


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.482insT p.Asn162Glnfs37* Exon 3 chr1:None chr1:None
c.93insT p.Thr32Tyrfs*3 Exon 1 chr1:None chr1:None
c.1-10C>T 5’UTR None chr1:25747287 chr1:25420796 rs369957834
c.28C>T p.Arg10Trp Exon 1 chr1:25747250 chr1:25420759 rs749601047
c.48G>C p.Trp16Cys Exon 1 chr1:25747230 chr1:25420739
c.79_81delCTC p.Leu27del Exon 1 chr1:25747197 chr1:25420706 rs1233711406
c.80_84delTCTTC p.Tyr29Phefs*5 Exon 1 chr1:25747194 chr1:25420703
c.84C>A p.Phe28Leu Exon 1 chr1:25747194 chr1:25420703
c.80_84del Exon 1 chr1:25747194 chr1:25420703
c.94A>G p.Thr32Ala Exon 1 chr1:25747184 chr1:25420693 rs760999674
c.93_94insT Exon 1 chr1:25747184 chr1:25420693 rs1361013513
c.98A>C p.His33Pro Exon 1 chr1:25747180 chr1:25420689
c.105C>T p.Asp35Asp Exon 2 chr1:25747173 chr1:25420682 rs142971926
c.106G>A p.Ala36Thr Exon 1 chr1:25747172 chr1:25420681 rs145034271
c.114A>C p.Leu38Phe Exon 2 chr1:25747164 chr1:25420673
c.122A>G p.Gln41Arg Exon 1 chr1:25747156 chr1:25420665 rs138268848
c.148G>A p.Val50Ile Exon 1 chr1:25747130 chr1:25420639
c.148+5G>A Intron 1 chr1:25747125 chr1:25420634 rs756955857
c.149-1G>A Intron 1 chr1:25735361 chr1:25408870
c.150C>T p.Val50Val Exon 2 chr1:25735359 chr1:25408868 rs200955066
c.178C>A p.Leu60Ile Exon 2 chr1:25735331 chr1:25408840 rs181860403
c.186G>T p.Leu62Phe Exon 3 chr1:25735323 chr1:25408832 rs113982491
c.187G>C p.Gly63Arg Exon 2 chr1:25735322 chr1:25408831
c.200C>A p.Ser67* Exon 2 chr1:25735309 chr1:25408818
c.201A>G p.Ser67Ser Exon 2 chr1:25735308 chr1:25408817 rs1053343
c.202A>G p.Asn68Asp Exon 2 chr1:25735307 chr1:25408816 rs772058645
c.203A>G p.Asn68Ser Exon 2 chr1:25735306 chr1:25408815 rs1053344
c.208C>T p.Arg70Trp Exon 2 chr1:25735301 chr1:25408810 rs1239729684
c.221G>A p.Trp74* Exon 2 chr1:25735288 chr1:25408797 rs1044945369
c.254C>G p.Ala85Gly Exon 2 chr1:25735255 chr1:25408764 rs57992529
c.286G>A p.Gly96Ser Exon 2 chr1:25735223 chr1:25408732 rs144348222
c.307C>T p.Pro103Ser Exon 2 chr1:25735202 chr1:25408711 rs676785
c.308C>T p.Pro103Leu Exon 2 chr1:25735201 chr1:25408710 rs747882675
c.335+3A>T Intron 2 chr1:25735171 chr1:25408680
c.336-2A>G p.Arg120_Ser122del Intron 2 chr1:25729239 chr1:25402748
c.340C>T p.Arg114Trp Exon 3 chr1:25729233 chr1:25402742 rs148487630
c.341G>A p.Arg114Gln Exon 3 chr1:25729232 chr1:25402741 rs1238030431
c.344T>C p.Leu115Pro Exon 3 chr1:25729229 chr1:25402738
c.344T>G p.Leu115Arg Exon 3 chr1:25729229 chr1:25402738
c.356G>A p.Ser119Asn Exon 3 chr1:25729217 chr1:25402726 rs777819701
c.350_358delCCATGAGTG p.Arg120_Ser122del Exon 3 chr1:25729215 chr1:25402724
c.350_358del Exon 3 chr1:25729215 chr1:25402724
c.361A>T p.Met121Leu Exon 3 chr1:25729212 chr1:25402721 rs1053345
c.364T>C p.Ser122Pro Exon 3 chr1:25729209 chr1:25402718
c.365C>T p.Ser122Leu Exon 3 chr1:25729208 chr1:25402717 rs201407774
c.366delG p.Val123Cysfs*1 Exon 3 chr1:25729207 chr1:25402716
c.374T>A p.Ile125Asn Exon 3 chr1:25729199 chr1:25402708
c.375C>G p.Ile125Met Exon 3 chr1:25729198 chr1:25402707 rs143715642
c.377C>G p.Ser126* Exon 3 chr1:25729196 chr1:25402705 rs1193854324
c.380C>T p.Ala127Val Exon 3 chr1:25729193 chr1:25402702 rs1053346
c.380C>A p.Ala127Glu Exon 3 chr1:25729193 chr1:25402702 rs1053346
c.382G>C p.Gly128Arg Exon 3 chr1:25729191 chr1:25402700
c.383G>A p.Gly128Asp Exon 3 chr1:25729190 chr1:25402699 rs1053347
c.410C>T p.Ala137Val Exon 5 chr1:25729163 chr1:25402672 rs199509194
c.455C>A p.Thr152Asn Exon 3 chr1:25729118 chr1:25402627 rs35109888
c.460A>G p.Arg154Gly Exon 3 chr1:25729113 chr1:25402622 rs755299894
c.461G>C p.Arg154Thr Exon 3 chr1:25729112 chr1:25402621 rs747471048
c.462G>T p.Arg154Ser Exon 3 chr1:25729111 chr1:25402620
c.464T>G p.Met155Arg Exon 3 chr1:25729109 chr1:25402618
c.473G>A p.Ser158Asn Exon 3 chr1:25729100 chr1:25402609 rs758173067
c.477T>G p.Asn159Lys Exon 3 chr1:25729096 chr1:25402605 rs1360017813
c.486+1G>A Intron 3 chr1:25729086 chr1:25402595 rs753832633
c.486+5G>A Intron 3 chr1:25729082 chr1:25402591
c.487-5T>G Intron 3 chr1:25718637 chr1:25392146 rs776819527
c.491A>G p.Asp164Gly Exon 4 chr1:25718628 chr1:25392137 rs548044758
c.494A>C p.Tyr165Ser Exon 4 chr1:25718625 chr1:25392134 rs746303049
c.497A>T p.His166Leu Exon 4 chr1:25718622 chr1:25392131
c.499A>G p.Met167Val Exon 4 chr1:25718620 chr1:25392129 rs779408591
c.500T>A p.Met167Lys Exon 4 chr1:25718619 chr1:25392128 rs140421430
c.501G>A p.Met167Ile Exon 4 chr1:25718618 chr1:25392127
c.505C>A p.Leu169Met Exon 4 chr1:25718614 chr1:25392123 rs1020280601
c.506T>A p.Leu169Gln Exon 4 chr1:25718613 chr1:25392122 rs1310627729
c.506T>C p.Leu169Pro Exon 4 chr1:25718613 chr1:25392122 rs1310627729
c.508A>G p.Arg170Gly Exon 4 chr1:25718611 chr1:25392120
c.509G>T p.Arg170Met Exon 4 chr1:25718610 chr1:25392119 rs987753117
c.512A>G p.His171Arg Exon 4 chr1:25718607 chr1:25392116 rs781037009
c.514T>A p.Phe172Ile Exon 4 chr1:25718605 chr1:25392114 rs1053349
c.520G>A p.Val174Met Exon 4 chr1:25718599 chr1:25392108 rs146306079
c.526G>A p.Ala176Thr Exon 4 chr1:25718593 chr1:25392102 rs753965768
c.527C>T p.Ala176Val Exon 4 chr1:25718592 chr1:25392101
c.538G>C p.Gly180Arg Exon 4 chr1:25718581 chr1:25392090
c.544A>T Exon 4 chr1:25718575 chr1:25392084 rs1053350
c.554G>A p.Trp185* Exon 4 chr1:25718565 chr1:25392074 rs1395012563
c.569_572dupCTCT p.Pro192Serfs*8 Exon 4 chr1:25718547 chr1:25392056
c.577A>G Exon 4 chr1:25718542 chr1:25392051 rs1384157219
c.594T>A Exon 4 chr1:25718525 chr1:25392034 rs1053354
c.602G>A Exon 4 chr1:25718517 chr1:25392026 rs141398055
c.602G>C p.Arg201Thr Exon 4 chr1:25718517 chr1:25392026 rs141398055
c.634+1G>T Intron 4 chr1:25718484 chr1:25391993
c.635-9G>A Intron 4 chr1:25717415 chr1:25390924 rs767724106
c.649T>C p.Trp217Arg Exon 5 chr1:25717392 chr1:25390901
c.659G>A p.Trp220* Exon 5 chr1:25717382 chr1:25390891 rs1256174405
c.662C>G p.Pro221Arg Exon 5 chr1:25717379 chr1:25390888 rs1281139377
c.667G>T p.Val223Phe Exon 5 chr1:25717374 chr1:25390883 rs147357308
c.674C>G p.Ser225Cys Exon 5 chr1:25717367 chr1:25390876 rs200087488
c.676G>C p.Ala226Pro Exon 5 chr1:25717365 chr1:25390874 rs609320
c.676delG p.Ala226Leufs*3 Exon 5 chr1:25717365 chr1:25390874 rs609320
c.679_683delCTGCT p.Leu227Glufs*89 Exon 5 chr1:25717358 chr1:25390867
c.685_687delAGA Exon 5 chr1:25717354 chr1:25390863
c.689G>C p.Ser230Thr Exon 5 chr1:25717352 chr1:25390861 rs1330038292
c.687_689delAAG p.Arg229del Exon 5 chr1:25717352 chr1:25390861 rs1437180947
c.695T>C p.Ile232Thr Exon 5 chr1:25717346 chr1:25390855 rs926360108
c.697C>G p.Gln233Glu Exon 5 chr1:25717344 chr1:25390853 rs142246017
c.712A>G p.Met238Val Exon 5 chr1:25717329 chr1:25390838 rs144163296
c.722C>T p.Thr241Ile Exon 5 chr1:25717319 chr1:25390828 rs751751505
c.728A>G p.Tyr243Cys Exon 5 chr1:25717313 chr1:25390822 rs555090649
c.730G>A p.Ala244Thr Exon 5 chr1:25717311 chr1:25390820 rs1307519228
c.733C>G p.Leu245Val Exon 5 chr1:25717308 chr1:25390817 rs1053361
c.734T>C p.Leu245Pro Exon 5 chr1:25717307 chr1:25390816
c.744T>C p.Ser248Ser Exon 5 chr1:25717297 chr1:25390806 rs149352457
c.748G>A p.Val250Met Exon 5 chr1:25717293 chr1:25390802 rs1029541644
c.774T>A Exon 5 chr1:25717267 chr1:25390776
c.787A>G p.Arg263Gly Exon 5 chr1:25717254 chr1:25390763 rs1132763
c.800T>A p.Met267Lys Exon 5 chr1:25717241 chr1:25390750 rs1132764
c.801+1G>A Intron 5 chr1:25717239 chr1:25390748
c.807T>A p.Tyr269* Exon 6 chr1:25715599 chr1:25389108 rs780267740
c.818C>T p.Ala273Val Exon 6 chr1:25715588 chr1:25389097 rs147094099
c.818C>A p.Ala273Glu Exon 6 chr1:25715588 chr1:25389097
c.827C>A p.Ala276Glu Exon 6 chr1:25715579 chr1:25389088
c.872C>T p.Pro291Leu Exon 6 chr1:25715534 chr1:25389043 rs374399829
c.890T>C p.Leu297Pro Exon 6 chr1:25715516 chr1:25389025 rs763017817
c.907delC p.Leu303* Exon 6 chr1:25715499 chr1:25389008 rs747976226
c.908T>A p.Leu303Gln Exon 6 chr1:25715498 chr1:25389007
c.916A>G p.Ile306Val Exon 6 chr1:25715490 chr1:25388999 rs1132765
c.919G>A p.Gly307Arg Exon 6 chr1:25715487 chr1:25388996 rs200950594
c.938delC p.Pro313Argfs*46 Exon 6 chr1:25715468 chr1:25388977
c.939G>A p.Pro313Pro Exon 6 chr1:25715467 chr1:25388976 rs754703211
c.941T>C p.Val314Ala Exon 7 chr1:25712334 chr1:25385843 rs79321360
c.963delG p.Iso322Phefs*37 Exon 7 chr1:25712312 chr1:25385821
c.966_968delinsC p.His323Profs*77 Exon 7 chr1:25712307 chr1:25385816
c.1006G>T p.Gly336Cys Exon 7 chr1:25712269 chr1:25385778 rs116261244
c.1007G>A p.Gly336Asp Exon 7 chr1:25712268 chr1:25385777 rs760319839
c.1007G>T p.Gly336Val Exon 7 chr1:25712268 chr1:25385777 rs760319839
c.1025C>T p.Thr342Ile Exon 7 chr1:25712250 chr1:25385759 rs1053374
c.1044_1050dupGCTTCAT p.Thr351Alafs*52 Exon 7 chr1:25712225 chr1:25385734
c.1059delG p.Trp353* Exon 4 chr1:25712216 chr1:25385725
c.1074-2A>G Intron 7 chr1:25701921 chr1:25375430
c.1118C>T p.Ala373Val Exon 8 chr1:25701875 chr1:25375384 rs1269230597
c.1130A>T p.Ala377Val Exon 8 chr1:25701863 chr1:25375372
c.1132C>G p.Leu378Val Exon 8 chr1:25701861 chr1:25375370 rs138917454
c.1154-1G>A Intron 8 chr1:25697032 chr1:25370541
c.1154G>C p.Gly385Ala Exon 9 chr1:25697031 chr1:25370540 rs1412021250
c.1154G>T p.Gly385Val Exon 9 chr1:25697031 chr1:25370540 rs1412021250
c.1170C>T p.Leu390Leu Exon 9 chr1:25697015 chr1:25370524 rs630931
c.1193T>A p.Val398Glu Exon 9 chr1:25696992 chr1:25370501 rs630612
c.1228-2A>G Intron 9 chr1:25689046 chr1:25362555
c.1254A>C p.Ter418Tyr Exon 10 chr1:25689018 chr1:25362527

Rh blood group CcEe antigens
Chromosome:chr1
Strand:-
Genomic ref.:NG_009208.3
Transcript ref.:NM_020485.8
Protein ref.: NP_065231.3 NP_619522.3 NP_619523.3
Entrez GeneID:6006
Uniprot ID:P18577
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
10 25688739 25747363 25689017 25747277
hg38:
ExonsStartEndCDS StartCDS End
10 25362248 25420914 25362526 25420786
Exon hg19 start hg19 end hg38 start hg38 end
1 25747129 25747405 25420638 25420914
10 25688739 25689044 25362248 25362553
2 25735173 25735360 25408682 25408869
3 25729086 25729237 25402595 25402746
4 25718484 25718632 25391993 25392141
5 25717239 25717406 25390748 25390915
6 25715466 25715604 25388975 25389113
7 25712201 25712335 25385710 25385844
8 25701839 25701919 25375348 25375428
9 25696957 25697031 25370466 25370540