UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11756975T>A | CA459313628 | GATA4 | c.1038T>A (p.Ala346=) c.1041T>A (p.Ala347=) n.483T>A c.420T>A (p.Ala140=) c.1035T>A (p.Ala345=) c.294T>A (p.Ala98=) | |
| 8 | g.11756975T>C | CA459313629 | GATA4 | c.1038T>C (p.Ala346=) c.1041T>C (p.Ala347=) n.483T>C c.420T>C (p.Ala140=) c.1035T>C (p.Ala345=) c.294T>C (p.Ala98=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11756975T>G | CA459313630 | GATA4 | c.1038T>G (p.Ala346=) c.1041T>G (p.Ala347=) n.483T>G c.420T>G (p.Ala140=) c.1035T>G (p.Ala345=) c.294T>G (p.Ala98=) | |
| 8 | g.11756975T= | CA1764072390 | GATA4 | c.1038T= (p.Ala346=) c.1041T= (p.Ala347=) n.483T= c.420T= (p.Ala140=) c.1035T= (p.Ala345=) c.294T= (p.Ala98=) | |
| 8 | g.11756975_11756984delinsTTCCAGCAAC | CA1764072388 | GATA4 | c.1038_1047delinsTTCCAGCAAC (p.Ala346=) c.1041_1050delinsTTCCAGCAAC (p.Ala347=) n.483_492delinsTTCCAGCAAC c.420_429delinsTTCCAGCAAC (p.Ala140=) c.1035_1044delinsTTCCAGCAAC (p.Ala345=) c.294_303delinsTTCCAGCAAC (p.Ala98=) | |
| 8 | g.11756976T>A | CA370314859 | GATA4 | c.1039T>A (p.Ser347Thr) c.1042T>A (p.Ser348Thr) n.484T>A c.421T>A (p.Ser141Thr) c.1036T>A (p.Ser346Thr) c.295T>A (p.Ser99Thr) | |
| 8 | g.11756976T>C | CA370314861 | GATA4 | c.1039T>C (p.Ser347Pro) c.1042T>C (p.Ser348Pro) n.484T>C c.421T>C (p.Ser141Pro) c.1036T>C (p.Ser346Pro) c.295T>C (p.Ser99Pro) | |
| 8 | g.11756976T>G | CA370314866 | GATA4 | c.1039T>G (p.Ser347Ala) c.1042T>G (p.Ser348Ala) n.484T>G c.421T>G (p.Ser141Ala) c.1036T>G (p.Ser346Ala) c.295T>G (p.Ser99Ala) | |
| 8 | g.11756985_11756993del | CA579789161 | GATA4 | c.1048_1056del (p.Ser350_Asn352del) c.1051_1059del (p.Ser351_Asn353del) n.493_501del c.430_438del (p.Ser144_Asn146del) c.1045_1053del (p.Ser349_Asn351del) c.304_312del (p.Ser102_Asn104del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11756977C>A | CA370314869 | GATA4 | c.1040C>A (p.Ser347Tyr) c.1043C>A (p.Ser348Tyr) n.485C>A c.422C>A (p.Ser141Tyr) c.1037C>A (p.Ser346Tyr) c.296C>A (p.Ser99Tyr) | |
| 8 | g.11756977C>G | CA370314871 | GATA4 | c.1040C>G (p.Ser347Cys) c.1043C>G (p.Ser348Cys) n.485C>G c.422C>G (p.Ser141Cys) c.1037C>G (p.Ser346Cys) c.296C>G (p.Ser99Cys) | |
| 8 | g.11756977C>T | CA370314872 | GATA4 | c.1040C>T (p.Ser347Phe) c.1043C>T (p.Ser348Phe) n.485C>T c.422C>T (p.Ser141Phe) c.1037C>T (p.Ser346Phe) c.296C>T (p.Ser99Phe) | |
| 8 | g.11756978C>A | CA459313632 | GATA4 | c.1041C>A (p.Ser347=) c.1044C>A (p.Ser348=) n.486C>A c.423C>A (p.Ser141=) c.1038C>A (p.Ser346=) c.297C>A (p.Ser99=) | |
| 8 | g.11756978C>G | CA459313633 | GATA4 | c.1041C>G (p.Ser347=) c.1044C>G (p.Ser348=) n.486C>G c.423C>G (p.Ser141=) c.1038C>G (p.Ser346=) c.297C>G (p.Ser99=) | |
| 8 | g.11756978C>T | CA459313634 | GATA4 | c.1041C>T (p.Ser347=) c.1044C>T (p.Ser348=) n.486C>T c.423C>T (p.Ser141=) c.1038C>T (p.Ser346=) c.297C>T (p.Ser99=) | |
| 8 | g.11756979A>C | CA370314874 | GATA4 | c.1042A>C (p.Ser348Arg) c.1045A>C (p.Ser349Arg) n.487A>C c.424A>C (p.Ser142Arg) c.1039A>C (p.Ser347Arg) c.298A>C (p.Ser100Arg) | |
| 8 | g.11756979A>G | CA370314876 | GATA4 | c.1042A>G (p.Ser348Gly) c.1045A>G (p.Ser349Gly) n.487A>G c.424A>G (p.Ser142Gly) c.1039A>G (p.Ser347Gly) c.298A>G (p.Ser100Gly) | |
| 8 | g.11756979A>T | CA370314877 | GATA4 | c.1042A>T (p.Ser348Cys) c.1045A>T (p.Ser349Cys) n.487A>T c.424A>T (p.Ser142Cys) c.1039A>T (p.Ser347Cys) c.298A>T (p.Ser100Cys) | |
| 8 | g.11756980G>A | CA370314879 | GATA4 | c.1043G>A (p.Ser348Asn) c.1046G>A (p.Ser349Asn) n.488G>A c.425G>A (p.Ser142Asn) c.1040G>A (p.Ser347Asn) c.299G>A (p.Ser100Asn) | gnomAD v4 |
| 8 | g.11756980G>C | CA370314881 | GATA4 | c.1043G>C (p.Ser348Thr) c.1046G>C (p.Ser349Thr) n.488G>C c.425G>C (p.Ser142Thr) c.1040G>C (p.Ser347Thr) c.299G>C (p.Ser100Thr) | |
| 8 | g.11756980G= | CA1764072395 | GATA4 | c.1043G= (p.Ser348=) c.1046G= (p.Ser349=) n.488G= c.425G= (p.Ser142=) c.1040G= (p.Ser347=) c.299G= (p.Ser100=) | |
| 8 | g.11756980G>T | CA370314883 | GATA4 | c.1043G>T (p.Ser348Ile) c.1046G>T (p.Ser349Ile) n.488G>T c.425G>T (p.Ser142Ile) c.1040G>T (p.Ser347Ile) c.299G>T (p.Ser100Ile) | dbSNP |
| 8 | g.11756981C>A | CA370314884 | GATA4 | c.1044C>A (p.Ser348Arg) c.1047C>A (p.Ser349Arg) n.489C>A c.426C>A (p.Ser142Arg) c.1041C>A (p.Ser347Arg) c.300C>A (p.Ser100Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11756981C= | CA1764072397 | GATA4 | c.1044C= (p.Ser348=) c.1047C= (p.Ser349=) n.489C= c.426C= (p.Ser142=) c.1041C= (p.Ser347=) c.300C= (p.Ser100=) | |
| 8 | g.11756981C>G | CA370314885 | GATA4 | c.1044C>G (p.Ser348Arg) c.1047C>G (p.Ser349Arg) n.489C>G c.426C>G (p.Ser142Arg) c.1041C>G (p.Ser347Arg) c.300C>G (p.Ser100Arg) | |
| 8 | g.11756981C>T | CA459313637 | GATA4 | c.1044C>T (p.Ser348=) c.1047C>T (p.Ser349=) n.489C>T c.426C>T (p.Ser142=) c.1041C>T (p.Ser347=) c.300C>T (p.Ser100=) | gnomAD v4 |
| 8 | g.11756982A>C | CA370314887 | GATA4 | c.1045A>C (p.Asn349His) c.1048A>C (p.Asn350His) n.490A>C c.427A>C (p.Asn143His) c.1042A>C (p.Asn348His) c.301A>C (p.Asn101His) | |
| 8 | g.11756982A>G | CA370314891 | GATA4 | c.1045A>G (p.Asn349Asp) c.1048A>G (p.Asn350Asp) n.490A>G c.427A>G (p.Asn143Asp) c.1042A>G (p.Asn348Asp) c.301A>G (p.Asn101Asp) | gnomAD v4 |
| 8 | g.11756982A>T | CA370314889 | GATA4 | c.1045A>T (p.Asn349Tyr) c.1048A>T (p.Asn350Tyr) n.490A>T c.427A>T (p.Asn143Tyr) c.1042A>T (p.Asn348Tyr) c.301A>T (p.Asn101Tyr) | |
| 8 | g.11756983A>C | CA370314893 | GATA4 | c.1046A>C (p.Asn349Thr) c.1049A>C (p.Asn350Thr) n.491A>C c.428A>C (p.Asn143Thr) c.1043A>C (p.Asn348Thr) c.302A>C (p.Asn101Thr) | |
| 8 | g.11756983A>G | CA370314895 | GATA4 | c.1046A>G (p.Asn349Ser) c.1049A>G (p.Asn350Ser) n.491A>G c.428A>G (p.Asn143Ser) c.1043A>G (p.Asn348Ser) c.302A>G (p.Asn101Ser) | |
| 8 | g.11756983A>T | CA370314897 | GATA4 | c.1046A>T (p.Asn349Ile) c.1049A>T (p.Asn350Ile) n.491A>T c.428A>T (p.Asn143Ile) c.1043A>T (p.Asn348Ile) c.302A>T (p.Asn101Ile) | |
| 8 | g.11756984C>A | CA370314902 | GATA4 | c.1047C>A (p.Asn349Lys) c.1050C>A (p.Asn350Lys) n.492C>A c.429C>A (p.Asn143Lys) c.1044C>A (p.Asn348Lys) c.303C>A (p.Asn101Lys) | |
| 8 | g.11756984C>G | CA370314904 | GATA4 | c.1047C>G (p.Asn349Lys) c.1050C>G (p.Asn350Lys) n.492C>G c.429C>G (p.Asn143Lys) c.1044C>G (p.Asn348Lys) c.303C>G (p.Asn101Lys) | |
| 8 | g.11756984C>T | CA459313641 | GATA4 | c.1047C>T (p.Asn349=) c.1050C>T (p.Asn350=) n.492C>T c.429C>T (p.Asn143=) c.1044C>T (p.Asn348=) c.303C>T (p.Asn101=) | gnomAD v4 |
| 8 | g.11756985T>A | CA370314906 | GATA4 | c.1048T>A (p.Ser350Thr) c.1051T>A (p.Ser351Thr) n.493T>A c.430T>A (p.Ser144Thr) c.1045T>A (p.Ser349Thr) c.304T>A (p.Ser102Thr) | |
| 8 | g.11756985T>C | CA370314908 | GATA4 | c.1048T>C (p.Ser350Pro) c.1051T>C (p.Ser351Pro) n.493T>C c.430T>C (p.Ser144Pro) c.1045T>C (p.Ser349Pro) c.304T>C (p.Ser102Pro) | |
| 8 | g.11756985T>G | CA370314910 | GATA4 | c.1048T>G (p.Ser350Ala) c.1051T>G (p.Ser351Ala) n.493T>G c.430T>G (p.Ser144Ala) c.1045T>G (p.Ser349Ala) c.304T>G (p.Ser102Ala) | |
| 8 | g.11756986C>A | CA370314911 | GATA4 | c.1049C>A (p.Ser350Tyr) c.1052C>A (p.Ser351Tyr) n.494C>A c.431C>A (p.Ser144Tyr) c.1046C>A (p.Ser349Tyr) c.305C>A (p.Ser102Tyr) | |
| 8 | g.11756986C>G | CA370314912 | GATA4 | c.1049C>G (p.Ser350Cys) c.1052C>G (p.Ser351Cys) n.494C>G c.431C>G (p.Ser144Cys) c.1046C>G (p.Ser349Cys) c.305C>G (p.Ser102Cys) | |
| 8 | g.11756986C>T | CA370314913 | GATA4 | c.1049C>T (p.Ser350Phe) c.1052C>T (p.Ser351Phe) n.494C>T c.431C>T (p.Ser144Phe) c.1046C>T (p.Ser349Phe) c.305C>T (p.Ser102Phe) | |
| 8 | g.11756987C>A | CA459313642 | GATA4 | c.1050C>A (p.Ser350=) c.1053C>A (p.Ser351=) n.495C>A c.432C>A (p.Ser144=) c.1047C>A (p.Ser349=) c.306C>A (p.Ser102=) | |
| 8 | g.11756987C= | CA1764072399 | GATA4 | c.1050C= (p.Ser350=) c.1053C= (p.Ser351=) n.495C= c.432C= (p.Ser144=) c.1047C= (p.Ser349=) c.306C= (p.Ser102=) | |
| 8 | g.11756987C>G | CA459313643 | GATA4 | c.1050C>G (p.Ser350=) c.1053C>G (p.Ser351=) n.495C>G c.432C>G (p.Ser144=) c.1047C>G (p.Ser349=) c.306C>G (p.Ser102=) | |
| 8 | g.11756987C>T | CA4630809 | GATA4 | c.1050C>T (p.Ser350=) c.1053C>T (p.Ser351=) n.495C>T c.432C>T (p.Ser144=) c.1047C>T (p.Ser349=) c.306C>T (p.Ser102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11756988A>C | CA370315320 | GATA4 | c.1051A>C (p.Ser351Arg) c.1054A>C (p.Ser352Arg) n.496A>C c.433A>C (p.Ser145Arg) c.1048A>C (p.Ser350Arg) c.307A>C (p.Ser103Arg) | |
| 8 | g.11756988A>G | CA370315318 | GATA4 | c.1051A>G (p.Ser351Gly) c.1054A>G (p.Ser352Gly) n.496A>G c.433A>G (p.Ser145Gly) c.1048A>G (p.Ser350Gly) c.307A>G (p.Ser103Gly) | ClinVar |
| 8 | g.11756988A>T | CA370315319 | GATA4 | c.1051A>T (p.Ser351Cys) c.1054A>T (p.Ser352Cys) n.496A>T c.433A>T (p.Ser145Cys) c.1048A>T (p.Ser350Cys) c.307A>T (p.Ser103Cys) | |
| 8 | g.11756989G>A | CA370315321 | GATA4 | c.1052G>A (p.Ser351Asn) c.1055G>A (p.Ser352Asn) n.497G>A c.434G>A (p.Ser145Asn) c.1049G>A (p.Ser350Asn) c.308G>A (p.Ser103Asn) | dbSNP |
| 8 | g.11756989G>C | CA370315322 | GATA4 | c.1052G>C (p.Ser351Thr) c.1055G>C (p.Ser352Thr) n.497G>C c.434G>C (p.Ser145Thr) c.1049G>C (p.Ser350Thr) c.308G>C (p.Ser103Thr) |