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 |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150952510_150952562del | CA2499218812 | KCNH2 | n.718_770del n.313_365del n.2253_2305del c.1420_1472del (p.Thr474ProfsTer27) c.400_452del (p.Thr134ProfsTer27) c.1072_1124del (p.Thr358ProfsTer27) n.707_759del n.725_777del n.1643_1695del c.1120_1172del (p.Thr374ProfsTer27) c.1270_1322del (p.Thr424ProfsTer27) c.1243_1295del (p.Thr415ProfsTer27) | ClinVar dbSNP |
| 7 | g.150952554G>A | CA027985 | KCNH2 | n.726C>T n.321C>T n.2261C>T c.1428C>T (p.Val476=) c.408C>T (p.Val136=) c.1080C>T (p.Val360=) n.715C>T n.733C>T n.1651C>T c.1128C>T (p.Val376=) c.1278C>T (p.Val426=) c.1251C>T (p.Val417=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150952554G>C | CA458871634 | KCNH2 | n.726C>G n.321C>G n.2261C>G c.1428C>G (p.Val476=) c.408C>G (p.Val136=) c.1080C>G (p.Val360=) n.715C>G n.733C>G n.1651C>G c.1128C>G (p.Val376=) c.1278C>G (p.Val426=) c.1251C>G (p.Val417=) | gnomAD v4 |
| 7 | g.150952554G= | CA1752411742 | KCNH2 | n.726C= n.321C= n.2261C= c.1428C= (p.Val476=) c.408C= (p.Val136=) c.1080C= (p.Val360=) n.715C= n.733C= n.1651C= c.1128C= (p.Val376=) c.1278C= (p.Val426=) c.1251C= (p.Val417=) | |
| 7 | g.150952554G>T | CA458871635 | KCNH2 | n.726C>A n.321C>A n.2261C>A c.1428C>A (p.Val476=) c.408C>A (p.Val136=) c.1080C>A (p.Val360=) n.715C>A n.733C>A n.1651C>A c.1128C>A (p.Val376=) c.1278C>A (p.Val426=) c.1251C>A (p.Val417=) | |
| 7 | g.150952555A>C | CA369859777 | KCNH2 | n.725T>G n.320T>G n.2260T>G c.1427T>G (p.Val476Gly) c.407T>G (p.Val136Gly) c.1079T>G (p.Val360Gly) n.714T>G n.732T>G n.1650T>G c.1127T>G (p.Val376Gly) c.1277T>G (p.Val426Gly) c.1250T>G (p.Val417Gly) | |
| 7 | g.150952555A>G | CA369859778 | KCNH2 | n.725T>C n.320T>C n.2260T>C c.1427T>C (p.Val476Ala) c.407T>C (p.Val136Ala) c.1079T>C (p.Val360Ala) n.714T>C n.732T>C n.1650T>C c.1127T>C (p.Val376Ala) c.1277T>C (p.Val426Ala) c.1250T>C (p.Val417Ala) | |
| 7 | g.150952555A>T | CA369859779 | KCNH2 | n.725T>A n.320T>A n.2260T>A c.1427T>A (p.Val476Asp) c.407T>A (p.Val136Asp) c.1079T>A (p.Val360Asp) n.714T>A n.732T>A n.1650T>A c.1127T>A (p.Val376Asp) c.1277T>A (p.Val426Asp) c.1250T>A (p.Val417Asp) | |
| 7 | g.150952556C>A | CA369859780 | KCNH2 | n.724G>T n.319G>T n.2259G>T c.1426G>T (p.Val476Phe) c.406G>T (p.Val136Phe) c.1078G>T (p.Val360Phe) n.713G>T n.731G>T n.1649G>T c.1126G>T (p.Val376Phe) c.1276G>T (p.Val426Phe) c.1249G>T (p.Val417Phe) | |
| 7 | g.150952556C= | CA1752411749 | KCNH2 | n.724G= n.319G= n.2259G= c.1426G= (p.Val476=) c.406G= (p.Val136=) c.1078G= (p.Val360=) n.713G= n.731G= n.1649G= c.1126G= (p.Val376=) c.1276G= (p.Val426=) c.1249G= (p.Val417=) | |
| 7 | g.150952556C>G | CA369859781 | KCNH2 | n.724G>C n.319G>C n.2259G>C c.1426G>C (p.Val476Leu) c.406G>C (p.Val136Leu) c.1078G>C (p.Val360Leu) n.713G>C n.731G>C n.1649G>C c.1126G>C (p.Val376Leu) c.1276G>C (p.Val426Leu) c.1249G>C (p.Val417Leu) | |
| 7 | g.150952556C>T | CA004631 | KCNH2 | n.724G>A n.319G>A n.2259G>A c.1426G>A (p.Val476Ile) c.406G>A (p.Val136Ile) c.1078G>A (p.Val360Ile) n.713G>A n.731G>A n.1649G>A c.1126G>A (p.Val376Ile) c.1276G>A (p.Val426Ile) c.1249G>A (p.Val417Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.150952556_150952559delinsCGTA | CA1752411751 | KCNH2 | n.721_724delinsTACG n.316_319delinsTACG n.2256_2259delinsTACG c.1423_1426delinsTACG (p.Tyr475=) c.403_406delinsTACG (p.Tyr135=) c.1075_1078delinsTACG (p.Tyr359=) n.710_713delinsTACG n.728_731delinsTACG n.1646_1649delinsTACG c.1123_1126delinsTACG (p.Tyr375=) c.1273_1276delinsTACG (p.Tyr425=) c.1246_1249delinsTACG (p.Tyr416=) | |
| 7 | g.150952557G>A | CA027959 | KCNH2 | n.723C>T n.318C>T n.2258C>T c.1425C>T (p.Tyr475=) c.405C>T (p.Tyr135=) c.1077C>T (p.Tyr359=) n.712C>T n.730C>T n.1648C>T c.1125C>T (p.Tyr375=) c.1275C>T (p.Tyr425=) c.1248C>T (p.Tyr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150952557G>C | CA369859782 | KCNH2 | n.723C>G n.318C>G n.2258C>G c.1425C>G (p.Tyr475Ter) c.405C>G (p.Tyr135Ter) c.1077C>G (p.Tyr359Ter) n.712C>G n.730C>G n.1648C>G c.1125C>G (p.Tyr375Ter) c.1275C>G (p.Tyr425Ter) c.1248C>G (p.Tyr416Ter) | |
| 7 | g.150952557G= | CA1752411756 | KCNH2 | n.723C= n.318C= n.2258C= c.1425C= (p.Tyr475=) c.405C= (p.Tyr135=) c.1077C= (p.Tyr359=) n.712C= n.730C= n.1648C= c.1125C= (p.Tyr375=) c.1275C= (p.Tyr425=) c.1248C= (p.Tyr416=) | |
| 7 | g.150952557G>T | CA369859783 | KCNH2 | n.723C>A n.318C>A n.2258C>A c.1425C>A (p.Tyr475Ter) c.405C>A (p.Tyr135Ter) c.1077C>A (p.Tyr359Ter) n.712C>A n.730C>A n.1648C>A c.1125C>A (p.Tyr375Ter) c.1275C>A (p.Tyr425Ter) c.1248C>A (p.Tyr416Ter) | ClinVar dbSNP |
| 7 | g.150952558_150952560del | CA004616 | KCNH2 | n.721_723del n.316_318del n.2256_2258del c.1423_1425del (p.Tyr475del) c.403_405del (p.Tyr135del) c.1075_1077del (p.Tyr359del) n.710_712del n.728_730del n.1646_1648del c.1123_1125del (p.Tyr375del) c.1273_1275del (p.Tyr425del) c.1246_1248del (p.Tyr416del) | ClinVar dbSNP |
| 7 | g.150952558T>A | CA369859785 | KCNH2 | n.722A>T n.317A>T n.2257A>T c.1424A>T (p.Tyr475Phe) c.404A>T (p.Tyr135Phe) c.1076A>T (p.Tyr359Phe) n.711A>T n.729A>T n.1647A>T c.1124A>T (p.Tyr375Phe) c.1274A>T (p.Tyr425Phe) c.1247A>T (p.Tyr416Phe) | |
| 7 | g.150952558T>C | CA004624 | KCNH2 | n.722A>G n.317A>G n.2257A>G c.1424A>G (p.Tyr475Cys) c.404A>G (p.Tyr135Cys) c.1076A>G (p.Tyr359Cys) n.711A>G n.729A>G n.1647A>G c.1124A>G (p.Tyr375Cys) c.1274A>G (p.Tyr425Cys) c.1247A>G (p.Tyr416Cys) | ClinVar dbSNP |
| 7 | g.150952558T>G | CA369859784 | KCNH2 | n.722A>C n.317A>C n.2257A>C c.1424A>C (p.Tyr475Ser) c.404A>C (p.Tyr135Ser) c.1076A>C (p.Tyr359Ser) n.711A>C n.729A>C n.1647A>C c.1124A>C (p.Tyr375Ser) c.1274A>C (p.Tyr425Ser) c.1247A>C (p.Tyr416Ser) | |
| 7 | g.150952558T= | CA1752411759 | KCNH2 | n.722A= n.317A= n.2257A= c.1424A= (p.Tyr475=) c.404A= (p.Tyr135=) c.1076A= (p.Tyr359=) n.711A= n.729A= n.1647A= c.1124A= (p.Tyr375=) c.1274A= (p.Tyr425=) c.1247A= (p.Tyr416=) | |
| 7 | g.150952559A>C | CA369859786 | KCNH2 | n.721T>G n.316T>G n.2256T>G c.1423T>G (p.Tyr475Asp) c.403T>G (p.Tyr135Asp) c.1075T>G (p.Tyr359Asp) n.710T>G n.728T>G n.1646T>G c.1123T>G (p.Tyr375Asp) c.1273T>G (p.Tyr425Asp) c.1246T>G (p.Tyr416Asp) | |
| 7 | g.150952559A>G | CA369859787 | KCNH2 | n.721T>C n.316T>C n.2256T>C c.1423T>C (p.Tyr475His) c.403T>C (p.Tyr135His) c.1075T>C (p.Tyr359His) n.710T>C n.728T>C n.1646T>C c.1123T>C (p.Tyr375His) c.1273T>C (p.Tyr425His) c.1246T>C (p.Tyr416His) | |
| 7 | g.150952559A>T | CA369859788 | KCNH2 | n.721T>A n.316T>A n.2256T>A c.1423T>A (p.Tyr475Asn) c.403T>A (p.Tyr135Asn) c.1075T>A (p.Tyr359Asn) n.710T>A n.728T>A n.1646T>A c.1123T>A (p.Tyr375Asn) c.1273T>A (p.Tyr425Asn) c.1246T>A (p.Tyr416Asn) | ClinVar |
| 7 | g.150952560G>A | CA458871638 | KCNH2 | n.720C>T n.315C>T n.2255C>T c.1422C>T (p.Thr474=) c.402C>T (p.Thr134=) c.1074C>T (p.Thr358=) n.709C>T n.727C>T n.1645C>T c.1122C>T (p.Thr374=) c.1272C>T (p.Thr424=) c.1245C>T (p.Thr415=) | gnomAD v4 |
| 7 | g.150952560G>C | CA458871637 | KCNH2 | n.720C>G n.315C>G n.2255C>G c.1422C>G (p.Thr474=) c.402C>G (p.Thr134=) c.1074C>G (p.Thr358=) n.709C>G n.727C>G n.1645C>G c.1122C>G (p.Thr374=) c.1272C>G (p.Thr424=) c.1245C>G (p.Thr415=) | |
| 7 | g.150952560G>T | CA458871636 | KCNH2 | n.720C>A n.315C>A n.2255C>A c.1422C>A (p.Thr474=) c.402C>A (p.Thr134=) c.1074C>A (p.Thr358=) n.709C>A n.727C>A n.1645C>A c.1122C>A (p.Thr374=) c.1272C>A (p.Thr424=) c.1245C>A (p.Thr415=) | |
| 7 | g.150952561G>A | CA004610 | KCNH2 | n.719C>T n.314C>T n.2254C>T c.1421C>T (p.Thr474Ile) c.401C>T (p.Thr134Ile) c.1073C>T (p.Thr358Ile) n.708C>T n.726C>T n.1644C>T c.1121C>T (p.Thr374Ile) c.1271C>T (p.Thr424Ile) c.1244C>T (p.Thr415Ile) | ClinVar dbSNP |
| 7 | g.150952561G>C | CA369859790 | KCNH2 | n.719C>G n.314C>G n.2254C>G c.1421C>G (p.Thr474Ser) c.401C>G (p.Thr134Ser) c.1073C>G (p.Thr358Ser) n.708C>G n.726C>G n.1644C>G c.1121C>G (p.Thr374Ser) c.1271C>G (p.Thr424Ser) c.1244C>G (p.Thr415Ser) | |
| 7 | g.150952561G= | CA1752411764 | KCNH2 | n.719C= n.314C= n.2254C= c.1421C= (p.Thr474=) c.401C= (p.Thr134=) c.1073C= (p.Thr358=) n.708C= n.726C= n.1644C= c.1121C= (p.Thr374=) c.1271C= (p.Thr424=) c.1244C= (p.Thr415=) | |
| 7 | g.150952561G>T | CA369859789 | KCNH2 | n.719C>A n.314C>A n.2254C>A c.1421C>A (p.Thr474Asn) c.401C>A (p.Thr134Asn) c.1073C>A (p.Thr358Asn) n.708C>A n.726C>A n.1644C>A c.1121C>A (p.Thr374Asn) c.1271C>A (p.Thr424Asn) c.1244C>A (p.Thr415Asn) | |
| 7 | g.150952562T>A | CA369859791 | KCNH2 | n.718A>T n.313A>T n.2253A>T c.1420A>T (p.Thr474Ser) c.400A>T (p.Thr134Ser) c.1072A>T (p.Thr358Ser) n.707A>T n.725A>T n.1643A>T c.1120A>T (p.Thr374Ser) c.1270A>T (p.Thr424Ser) c.1243A>T (p.Thr415Ser) | |
| 7 | g.150952562T>C | CA369859792 | KCNH2 | n.718A>G n.313A>G n.2253A>G c.1420A>G (p.Thr474Ala) c.400A>G (p.Thr134Ala) c.1072A>G (p.Thr358Ala) n.707A>G n.725A>G n.1643A>G c.1120A>G (p.Thr374Ala) c.1270A>G (p.Thr424Ala) c.1243A>G (p.Thr415Ala) | |
| 7 | g.150952562T>G | CA369859793 | KCNH2 | n.718A>C n.313A>C n.2253A>C c.1420A>C (p.Thr474Pro) c.400A>C (p.Thr134Pro) c.1072A>C (p.Thr358Pro) n.707A>C n.725A>C n.1643A>C c.1120A>C (p.Thr374Pro) c.1270A>C (p.Thr424Pro) c.1243A>C (p.Thr415Pro) | |
| 7 | g.150952563G>A | CA16605080 | KCNH2 | n.717C>T n.312C>T n.2252C>T c.1419C>T (p.Thr473=) c.399C>T (p.Thr133=) c.1071C>T (p.Thr357=) n.706C>T n.724C>T n.1642C>T c.1119C>T (p.Thr373=) c.1269C>T (p.Thr423=) c.1242C>T (p.Thr414=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150952563G>C | CA458871640 | KCNH2 | n.717C>G n.312C>G n.2252C>G c.1419C>G (p.Thr473=) c.399C>G (p.Thr133=) c.1071C>G (p.Thr357=) n.706C>G n.724C>G n.1642C>G c.1119C>G (p.Thr373=) c.1269C>G (p.Thr423=) c.1242C>G (p.Thr414=) | |
| 7 | g.150952563G= | CA1752411769 | KCNH2 | n.717C= n.312C= n.2252C= c.1419C= (p.Thr473=) c.399C= (p.Thr133=) c.1071C= (p.Thr357=) n.706C= n.724C= n.1642C= c.1119C= (p.Thr373=) c.1269C= (p.Thr423=) c.1242C= (p.Thr414=) | |
| 7 | g.150952563G>T | CA458871641 | KCNH2 | n.717C>A n.312C>A n.2252C>A c.1419C>A (p.Thr473=) c.399C>A (p.Thr133=) c.1071C>A (p.Thr357=) n.706C>A n.724C>A n.1642C>A c.1119C>A (p.Thr373=) c.1269C>A (p.Thr423=) c.1242C>A (p.Thr414=) | ClinVar dbSNP |
| 7 | g.150952564G>A | CA369859794 | KCNH2 | n.716C>T n.311C>T n.2251C>T c.1418C>T (p.Thr473Ile) c.398C>T (p.Thr133Ile) c.1070C>T (p.Thr357Ile) n.705C>T n.723C>T n.1641C>T c.1118C>T (p.Thr373Ile) c.1268C>T (p.Thr423Ile) c.1241C>T (p.Thr414Ile) | ClinVar dbSNP |
| 7 | g.150952564G>C | CA369859795 | KCNH2 | n.716C>G n.311C>G n.2251C>G c.1418C>G (p.Thr473Ser) c.398C>G (p.Thr133Ser) c.1070C>G (p.Thr357Ser) n.705C>G n.723C>G n.1641C>G c.1118C>G (p.Thr373Ser) c.1268C>G (p.Thr423Ser) c.1241C>G (p.Thr414Ser) | |
| 7 | g.150952564G= | CA1752411772 | KCNH2 | n.716C= n.311C= n.2251C= c.1418C= (p.Thr473=) c.398C= (p.Thr133=) c.1070C= (p.Thr357=) n.705C= n.723C= n.1641C= c.1118C= (p.Thr373=) c.1268C= (p.Thr423=) c.1241C= (p.Thr414=) | |
| 7 | g.150952564G>T | CA004603 | KCNH2 | n.716C>A n.311C>A n.2251C>A c.1418C>A (p.Thr473Asn) c.398C>A (p.Thr133Asn) c.1070C>A (p.Thr357Asn) n.705C>A n.723C>A n.1641C>A c.1118C>A (p.Thr373Asn) c.1268C>A (p.Thr423Asn) c.1241C>A (p.Thr414Asn) | ClinVar dbSNP |
| 7 | g.150952565T>A | CA369859797 | KCNH2 | n.715A>T n.310A>T n.2250A>T c.1417A>T (p.Thr473Ser) c.397A>T (p.Thr133Ser) c.1069A>T (p.Thr357Ser) n.704A>T n.722A>T n.1640A>T c.1117A>T (p.Thr373Ser) c.1267A>T (p.Thr423Ser) c.1240A>T (p.Thr414Ser) | |
| 7 | g.150952565T>C | CA369859796 | KCNH2 | n.715A>G n.310A>G n.2250A>G c.1417A>G (p.Thr473Ala) c.397A>G (p.Thr133Ala) c.1069A>G (p.Thr357Ala) n.704A>G n.722A>G n.1640A>G c.1117A>G (p.Thr373Ala) c.1267A>G (p.Thr423Ala) c.1240A>G (p.Thr414Ala) | ClinVar |
| 7 | g.150952565T>G | CA004596 | KCNH2 | n.715A>C n.310A>C n.2250A>C c.1417A>C (p.Thr473Pro) c.397A>C (p.Thr133Pro) c.1069A>C (p.Thr357Pro) n.704A>C n.722A>C n.1640A>C c.1117A>C (p.Thr373Pro) c.1267A>C (p.Thr423Pro) c.1240A>C (p.Thr414Pro) | ClinVar dbSNP |
| 7 | g.150952565T= | CA1752411777 | KCNH2 | n.715A= n.310A= n.2250A= c.1417A= (p.Thr473=) c.397A= (p.Thr133=) c.1069A= (p.Thr357=) n.704A= n.722A= n.1640A= c.1117A= (p.Thr373=) c.1267A= (p.Thr423=) c.1240A= (p.Thr414=) | |
| 7 | g.150952566G>A | CA027926 | KCNH2 | n.714C>T n.309C>T n.2249C>T c.1416C>T (p.Arg472=) c.396C>T (p.Arg132=) c.1068C>T (p.Arg356=) n.703C>T n.721C>T n.1639C>T c.1116C>T (p.Arg372=) c.1266C>T (p.Arg422=) c.1239C>T (p.Arg413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150952566G>C | CA458871642 | KCNH2 | n.714C>G n.309C>G n.2249C>G c.1416C>G (p.Arg472=) c.396C>G (p.Arg132=) c.1068C>G (p.Arg356=) n.703C>G n.721C>G n.1639C>G c.1116C>G (p.Arg372=) c.1266C>G (p.Arg422=) c.1239C>G (p.Arg413=) | dbSNP gnomAD v2 gnomAD v4 |