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.150952568G>A | CA027907 | KCNH2 | n.712C>T n.307C>T n.2247C>T c.1414C>T (p.Arg472Cys) c.394C>T (p.Arg132Cys) c.1066C>T (p.Arg356Cys) n.701C>T n.719C>T n.1637C>T c.1114C>T (p.Arg372Cys) c.1264C>T (p.Arg422Cys) c.1237C>T (p.Arg413Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150952568G>C | CA369859799 | KCNH2 | n.712C>G n.307C>G n.2247C>G c.1414C>G (p.Arg472Gly) c.394C>G (p.Arg132Gly) c.1066C>G (p.Arg356Gly) n.701C>G n.719C>G n.1637C>G c.1114C>G (p.Arg372Gly) c.1264C>G (p.Arg422Gly) c.1237C>G (p.Arg413Gly) | |
| 7 | g.150952568G= | CA1752411788 | KCNH2 | n.712C= n.307C= n.2247C= c.1414C= (p.Arg472=) c.394C= (p.Arg132=) c.1066C= (p.Arg356=) n.701C= n.719C= n.1637C= c.1114C= (p.Arg372=) c.1264C= (p.Arg422=) c.1237C= (p.Arg413=) | |
| 7 | g.150952568G>T | CA369859800 | KCNH2 | n.712C>A n.307C>A n.2247C>A c.1414C>A (p.Arg472Ser) c.394C>A (p.Arg132Ser) c.1066C>A (p.Arg356Ser) n.701C>A n.719C>A n.1637C>A c.1114C>A (p.Arg372Ser) c.1264C>A (p.Arg422Ser) c.1237C>A (p.Arg413Ser) | |
| 7 | g.150952569del | CA2695208734 | KCNH2 | n.712del n.307del n.2247del c.1414del (p.Arg472AlafsTer?) c.394del (p.Arg132AlafsTer?) c.1066del (p.Arg356AlafsTer?) n.701del n.719del n.1637del c.1114del (p.Arg372AlafsTer?) c.1264del (p.Arg422AlafsTer?) c.1237del (p.Arg413AlafsTer?) | |
| 7 | g.150952569G>A | CA458871644 | KCNH2 | n.711C>T n.306C>T n.2246C>T c.1413C>T (p.Phe471=) c.393C>T (p.Phe131=) c.1065C>T (p.Phe355=) n.700C>T n.718C>T n.1636C>T c.1113C>T (p.Phe371=) c.1263C>T (p.Phe421=) c.1236C>T (p.Phe412=) | gnomAD v4 |
| 7 | g.150952569G>C | CA369859801 | KCNH2 | n.711C>G n.306C>G n.2246C>G c.1413C>G (p.Phe471Leu) c.393C>G (p.Phe131Leu) c.1065C>G (p.Phe355Leu) n.700C>G n.718C>G n.1636C>G c.1113C>G (p.Phe371Leu) c.1263C>G (p.Phe421Leu) c.1236C>G (p.Phe412Leu) | |
| 7 | g.150952569G>T | CA369859802 | KCNH2 | n.711C>A n.306C>A n.2246C>A c.1413C>A (p.Phe471Leu) c.393C>A (p.Phe131Leu) c.1065C>A (p.Phe355Leu) n.700C>A n.718C>A n.1636C>A c.1113C>A (p.Phe371Leu) c.1263C>A (p.Phe421Leu) c.1236C>A (p.Phe412Leu) | gnomAD v4 |
| 7 | g.150952570A>C | CA369859803 | KCNH2 | n.710T>G n.305T>G n.2245T>G c.1412T>G (p.Phe471Cys) c.392T>G (p.Phe131Cys) c.1064T>G (p.Phe355Cys) n.699T>G n.717T>G n.1635T>G c.1112T>G (p.Phe371Cys) c.1262T>G (p.Phe421Cys) c.1235T>G (p.Phe412Cys) | |
| 7 | g.150952570A>G | CA369859804 | KCNH2 | n.710T>C n.305T>C n.2245T>C c.1412T>C (p.Phe471Ser) c.392T>C (p.Phe131Ser) c.1064T>C (p.Phe355Ser) n.699T>C n.717T>C n.1635T>C c.1112T>C (p.Phe371Ser) c.1262T>C (p.Phe421Ser) c.1235T>C (p.Phe412Ser) | |
| 7 | g.150952570A>T | CA369859805 | KCNH2 | n.710T>A n.305T>A n.2245T>A c.1412T>A (p.Phe471Tyr) c.392T>A (p.Phe131Tyr) c.1064T>A (p.Phe355Tyr) n.699T>A n.717T>A n.1635T>A c.1112T>A (p.Phe371Tyr) c.1262T>A (p.Phe421Tyr) c.1235T>A (p.Phe412Tyr) | |
| 7 | g.150952571A>C | CA369859806 | KCNH2 | n.709T>G n.304T>G n.2244T>G c.1411T>G (p.Phe471Val) c.391T>G (p.Phe131Val) c.1063T>G (p.Phe355Val) n.698T>G n.716T>G n.1634T>G c.1111T>G (p.Phe371Val) c.1261T>G (p.Phe421Val) c.1234T>G (p.Phe412Val) | |
| 7 | g.150952571A>G | CA369859808 | KCNH2 | n.709T>C n.304T>C n.2244T>C c.1411T>C (p.Phe471Leu) c.391T>C (p.Phe131Leu) c.1063T>C (p.Phe355Leu) n.698T>C n.716T>C n.1634T>C c.1111T>C (p.Phe371Leu) c.1261T>C (p.Phe421Leu) c.1234T>C (p.Phe412Leu) | |
| 7 | g.150952571A>T | CA369859807 | KCNH2 | n.709T>A n.304T>A n.2244T>A c.1411T>A (p.Phe471Ile) c.391T>A (p.Phe131Ile) c.1063T>A (p.Phe355Ile) n.698T>A n.716T>A n.1634T>A c.1111T>A (p.Phe371Ile) c.1261T>A (p.Phe421Ile) c.1234T>A (p.Phe412Ile) | |
| 7 | g.150952572G>A | CA458871645 | KCNH2 | n.708C>T n.303C>T n.2243C>T c.1410C>T (p.Asn470=) c.390C>T (p.Asn130=) c.1062C>T (p.Asn354=) n.697C>T n.715C>T n.1633C>T c.1110C>T (p.Asn370=) c.1260C>T (p.Asn420=) c.1233C>T (p.Asn411=) | ClinVar dbSNP |
| 7 | g.150952572G>C | CA369859809 | KCNH2 | n.708C>G n.303C>G n.2243C>G c.1410C>G (p.Asn470Lys) c.390C>G (p.Asn130Lys) c.1062C>G (p.Asn354Lys) n.697C>G n.715C>G n.1633C>G c.1110C>G (p.Asn370Lys) c.1260C>G (p.Asn420Lys) c.1233C>G (p.Asn411Lys) | |
| 7 | g.150952572G= | CA1752411792 | KCNH2 | n.708C= n.303C= n.2243C= c.1410C= (p.Asn470=) c.390C= (p.Asn130=) c.1062C= (p.Asn354=) n.697C= n.715C= n.1633C= c.1110C= (p.Asn370=) c.1260C= (p.Asn420=) c.1233C= (p.Asn411=) | |
| 7 | g.150952572G>T | CA369859810 | KCNH2 | n.708C>A n.303C>A n.2243C>A c.1410C>A (p.Asn470Lys) c.390C>A (p.Asn130Lys) c.1062C>A (p.Asn354Lys) n.697C>A n.715C>A n.1633C>A c.1110C>A (p.Asn370Lys) c.1260C>A (p.Asn420Lys) c.1233C>A (p.Asn411Lys) | |
| 7 | g.150952573T>A | CA369859811 | KCNH2 | n.707A>T n.302A>T n.2242A>T c.1409A>T (p.Asn470Ile) c.389A>T (p.Asn130Ile) c.1061A>T (p.Asn354Ile) n.696A>T n.714A>T n.1632A>T c.1109A>T (p.Asn370Ile) c.1259A>T (p.Asn420Ile) c.1232A>T (p.Asn411Ile) | |
| 7 | g.150952573T>C | CA369859812 | KCNH2 | n.707A>G n.302A>G n.2242A>G c.1409A>G (p.Asn470Ser) c.389A>G (p.Asn130Ser) c.1061A>G (p.Asn354Ser) n.696A>G n.714A>G n.1632A>G c.1109A>G (p.Asn370Ser) c.1259A>G (p.Asn420Ser) c.1232A>G (p.Asn411Ser) | |
| 7 | g.150952573T>G | CA369859813 | KCNH2 | n.707A>C n.302A>C n.2242A>C c.1409A>C (p.Asn470Thr) c.389A>C (p.Asn130Thr) c.1061A>C (p.Asn354Thr) n.696A>C n.714A>C n.1632A>C c.1109A>C (p.Asn370Thr) c.1259A>C (p.Asn420Thr) c.1232A>C (p.Asn411Thr) | |
| 7 | g.150952574T>A | CA369859814 | KCNH2 | n.706A>T n.301A>T n.2241A>T c.1408A>T (p.Asn470Tyr) c.388A>T (p.Asn130Tyr) c.1060A>T (p.Asn354Tyr) n.695A>T n.713A>T n.1631A>T c.1108A>T (p.Asn370Tyr) c.1258A>T (p.Asn420Tyr) c.1231A>T (p.Asn411Tyr) | |
| 7 | g.150952574T>C | CA004572 | KCNH2 | n.706A>G n.301A>G n.2241A>G c.1408A>G (p.Asn470Asp) c.388A>G (p.Asn130Asp) c.1060A>G (p.Asn354Asp) n.695A>G n.713A>G n.1631A>G c.1108A>G (p.Asn370Asp) c.1258A>G (p.Asn420Asp) c.1231A>G (p.Asn411Asp) | ClinVar dbSNP |
| 7 | g.150952574T>G | CA369859815 | KCNH2 | n.706A>C n.301A>C n.2241A>C c.1408A>C (p.Asn470His) c.388A>C (p.Asn130His) c.1060A>C (p.Asn354His) n.695A>C n.713A>C n.1631A>C c.1108A>C (p.Asn370His) c.1258A>C (p.Asn420His) c.1231A>C (p.Asn411His) | |
| 7 | g.150952574T= | CA1752411799 | KCNH2 | n.706A= n.301A= n.2241A= c.1408A= (p.Asn470=) c.388A= (p.Asn130=) c.1060A= (p.Asn354=) n.695A= n.713A= n.1631A= c.1108A= (p.Asn370=) c.1258A= (p.Asn420=) c.1231A= (p.Asn411=) | |
| 7 | g.150952575G>A | CA458871646 | KCNH2 | n.705C>T n.300C>T n.2240C>T c.1407C>T (p.Ile469=) c.387C>T (p.Ile129=) c.1059C>T (p.Ile353=) n.694C>T n.712C>T n.1630C>T c.1107C>T (p.Ile369=) c.1257C>T (p.Ile419=) c.1230C>T (p.Ile410=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.150952575G>C | CA369859816 | KCNH2 | n.705C>G n.300C>G n.2240C>G c.1407C>G (p.Ile469Met) c.387C>G (p.Ile129Met) c.1059C>G (p.Ile353Met) n.694C>G n.712C>G n.1630C>G c.1107C>G (p.Ile369Met) c.1257C>G (p.Ile419Met) c.1230C>G (p.Ile410Met) | gnomAD v4 |
| 7 | g.150952575G= | CA1752411803 | KCNH2 | n.705C= n.300C= n.2240C= c.1407C= (p.Ile469=) c.387C= (p.Ile129=) c.1059C= (p.Ile353=) n.694C= n.712C= n.1630C= c.1107C= (p.Ile369=) c.1257C= (p.Ile419=) c.1230C= (p.Ile410=) | |
| 7 | g.150952575G>T | CA027892 | KCNH2 | n.705C>A n.300C>A n.2240C>A c.1407C>A (p.Ile469=) c.387C>A (p.Ile129=) c.1059C>A (p.Ile353=) n.694C>A n.712C>A n.1630C>A c.1107C>A (p.Ile369=) c.1257C>A (p.Ile419=) c.1230C>A (p.Ile410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150952576A>C | CA369859817 | KCNH2 | n.704T>G n.299T>G n.2239T>G c.1406T>G (p.Ile469Ser) c.386T>G (p.Ile129Ser) c.1058T>G (p.Ile353Ser) n.693T>G n.711T>G n.1629T>G c.1106T>G (p.Ile369Ser) c.1256T>G (p.Ile419Ser) c.1229T>G (p.Ile410Ser) | |
| 7 | g.150952576A>G | CA369859818 | KCNH2 | n.704T>C n.299T>C n.2239T>C c.1406T>C (p.Ile469Thr) c.386T>C (p.Ile129Thr) c.1058T>C (p.Ile353Thr) n.693T>C n.711T>C n.1629T>C c.1106T>C (p.Ile369Thr) c.1256T>C (p.Ile419Thr) c.1229T>C (p.Ile410Thr) | |
| 7 | g.150952576A>T | CA369859819 | KCNH2 | n.704T>A n.299T>A n.2239T>A c.1406T>A (p.Ile469Asn) c.386T>A (p.Ile129Asn) c.1058T>A (p.Ile353Asn) n.693T>A n.711T>A n.1629T>A c.1106T>A (p.Ile369Asn) c.1256T>A (p.Ile419Asn) c.1229T>A (p.Ile410Asn) | |
| 7 | g.150952577T>A | CA070071 | KCNH2 | n.703A>T n.298A>T n.2238A>T c.1405A>T (p.Ile469Phe) c.385A>T (p.Ile129Phe) c.1057A>T (p.Ile353Phe) n.692A>T n.710A>T n.1628A>T c.1105A>T (p.Ile369Phe) c.1255A>T (p.Ile419Phe) c.1228A>T (p.Ile410Phe) | |
| 7 | g.150952577T>C | CA369859821 | KCNH2 | n.703A>G n.298A>G n.2238A>G c.1405A>G (p.Ile469Val) c.385A>G (p.Ile129Val) c.1057A>G (p.Ile353Val) n.692A>G n.710A>G n.1628A>G c.1105A>G (p.Ile369Val) c.1255A>G (p.Ile419Val) c.1228A>G (p.Ile410Val) | |
| 7 | g.150952577T>G | CA369859820 | KCNH2 | n.703A>C n.298A>C n.2238A>C c.1405A>C (p.Ile469Leu) c.385A>C (p.Ile129Leu) c.1057A>C (p.Ile353Leu) n.692A>C n.710A>C n.1628A>C c.1105A>C (p.Ile369Leu) c.1255A>C (p.Ile419Leu) c.1228A>C (p.Ile410Leu) | |
| 7 | g.150952578G>A | CA458871648 | KCNH2 | n.702C>T n.297C>T n.2237C>T c.1404C>T (p.Leu468=) c.384C>T (p.Leu128=) c.1056C>T (p.Leu352=) n.691C>T n.709C>T n.1627C>T c.1104C>T (p.Leu368=) c.1254C>T (p.Leu418=) c.1227C>T (p.Leu409=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150952578G>C | CA458871649 | KCNH2 | n.702C>G n.297C>G n.2237C>G c.1404C>G (p.Leu468=) c.384C>G (p.Leu128=) c.1056C>G (p.Leu352=) n.691C>G n.709C>G n.1627C>G c.1104C>G (p.Leu368=) c.1254C>G (p.Leu418=) c.1227C>G (p.Leu409=) | gnomAD v4 |
| 7 | g.150952578G= | CA1752411807 | KCNH2 | n.702C= n.297C= n.2237C= c.1404C= (p.Leu468=) c.384C= (p.Leu128=) c.1056C= (p.Leu352=) n.691C= n.709C= n.1627C= c.1104C= (p.Leu368=) c.1254C= (p.Leu418=) c.1227C= (p.Leu409=) | |
| 7 | g.150952578G>T | CA458871647 | KCNH2 | n.702C>A n.297C>A n.2237C>A c.1404C>A (p.Leu468=) c.384C>A (p.Leu128=) c.1056C>A (p.Leu352=) n.691C>A n.709C>A n.1627C>A c.1104C>A (p.Leu368=) c.1254C>A (p.Leu418=) c.1227C>A (p.Leu409=) | |
| 7 | g.150952579A= | CA1752411812 | KCNH2 | n.701T= n.296T= n.2236T= c.1403T= (p.Leu468=) c.383T= (p.Leu128=) c.1055T= (p.Leu352=) n.690T= n.708T= n.1626T= c.1103T= (p.Leu368=) c.1253T= (p.Leu418=) c.1226T= (p.Leu409=) | |
| 7 | g.150952579A>C | CA369859822 | KCNH2 | n.701T>G n.296T>G n.2236T>G c.1403T>G (p.Leu468Arg) c.383T>G (p.Leu128Arg) c.1055T>G (p.Leu352Arg) n.690T>G n.708T>G n.1626T>G c.1103T>G (p.Leu368Arg) c.1253T>G (p.Leu418Arg) c.1226T>G (p.Leu409Arg) | |
| 7 | g.150952579A>G | CA369859823 | KCNH2 | n.701T>C n.296T>C n.2236T>C c.1403T>C (p.Leu468Pro) c.383T>C (p.Leu128Pro) c.1055T>C (p.Leu352Pro) n.690T>C n.708T>C n.1626T>C c.1103T>C (p.Leu368Pro) c.1253T>C (p.Leu418Pro) c.1226T>C (p.Leu409Pro) | |
| 7 | g.150952579A>T | CA369859824 | KCNH2 | n.701T>A n.296T>A n.2236T>A c.1403T>A (p.Leu468His) c.383T>A (p.Leu128His) c.1055T>A (p.Leu352His) n.690T>A n.708T>A n.1626T>A c.1103T>A (p.Leu368His) c.1253T>A (p.Leu418His) c.1226T>A (p.Leu409His) | |
| 7 | g.150952580G>A | CA169077500 | KCNH2 | n.700C>T n.295C>T n.2235C>T c.1402C>T (p.Leu468Phe) c.382C>T (p.Leu128Phe) c.1054C>T (p.Leu352Phe) n.689C>T n.707C>T n.1625C>T c.1102C>T (p.Leu368Phe) c.1252C>T (p.Leu418Phe) c.1225C>T (p.Leu409Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.150952580G>C | CA369859825 | KCNH2 | n.700C>G n.295C>G n.2235C>G c.1402C>G (p.Leu468Val) c.382C>G (p.Leu128Val) c.1054C>G (p.Leu352Val) n.689C>G n.707C>G n.1625C>G c.1102C>G (p.Leu368Val) c.1252C>G (p.Leu418Val) c.1225C>G (p.Leu409Val) | |
| 7 | g.150952580G= | CA1752411820 | KCNH2 | n.700C= n.295C= n.2235C= c.1402C= (p.Leu468=) c.382C= (p.Leu128=) c.1054C= (p.Leu352=) n.689C= n.707C= n.1625C= c.1102C= (p.Leu368=) c.1252C= (p.Leu418=) c.1225C= (p.Leu409=) | |
| 7 | g.150952580G>T | CA369859826 | KCNH2 | n.700C>A n.295C>A n.2235C>A c.1402C>A (p.Leu468Ile) c.382C>A (p.Leu128Ile) c.1054C>A (p.Leu352Ile) n.689C>A n.707C>A n.1625C>A c.1102C>A (p.Leu368Ile) c.1252C>A (p.Leu418Ile) c.1225C>A (p.Leu409Ile) | |
| 7 | g.150952581dup | CA353925 | KCNH2 | n.700dup n.295dup n.2235dup c.1402dup (p.Leu468ProfsTer?) c.382dup (p.Leu128ProfsTer?) c.1054dup (p.Leu352ProfsTer?) n.689dup n.707dup n.1625dup c.1102dup (p.Leu368ProfsTer?) c.1252dup (p.Leu418ProfsTer?) c.1225dup (p.Leu409ProfsTer?) | ClinVar dbSNP |
| 7 | g.150952581G>A | CA458871650 | KCNH2 | n.699C>T n.294C>T n.2234C>T c.1401C>T (p.Ile467=) c.381C>T (p.Ile127=) c.1053C>T (p.Ile351=) n.688C>T n.706C>T n.1624C>T c.1101C>T (p.Ile367=) c.1251C>T (p.Ile417=) c.1224C>T (p.Ile408=) | ClinVar dbSNP COSMIC COSMIC COSMIC |