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.150959636_150959663del | CA2695208663 | KCNH2 | n.1214_1241del c.381_408del (p.Asn128TrpfsTer29) c.204_231del (p.Asn69TrpfsTer7) n.604_631del c.81_108del (p.Asn28TrpfsTer29) c.231_258del (p.Asn78TrpfsTer29) c.204_231del (p.Asn69TrpfsTer29) | |
| 7 | g.150959656C>A | CA369863762 | KCNH2 | n.1221G>T c.388G>T (p.Glu130Ter) c.211G>T (p.Glu71Ter) n.611G>T c.88G>T (p.Glu30Ter) c.238G>T (p.Glu80Ter) | |
| 7 | g.150959656C= | CA1752419989 | KCNH2 | n.1221G= c.388G= (p.Glu130=) c.211G= (p.Glu71=) n.611G= c.88G= (p.Glu30=) c.238G= (p.Glu80=) | |
| 7 | g.150959656C>G | CA369863763 | KCNH2 | n.1221G>C c.388G>C (p.Glu130Gln) c.211G>C (p.Glu71Gln) n.611G>C c.88G>C (p.Glu30Gln) c.238G>C (p.Glu80Gln) | |
| 7 | g.150959656C>T | CA008414 | KCNH2 | n.1221G>A c.388G>A (p.Glu130Lys) c.211G>A (p.Glu71Lys) n.611G>A c.88G>A (p.Glu30Lys) c.238G>A (p.Glu80Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.150959657G>A | CA039243 | KCNH2 | n.1220C>T c.387C>T (p.Phe129=) c.210C>T (p.Phe70=) n.610C>T c.87C>T (p.Phe29=) c.237C>T (p.Phe79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150959657G>C | CA008406 | KCNH2 | n.1220C>G c.387C>G (p.Phe129Leu) c.210C>G (p.Phe70Leu) n.610C>G c.87C>G (p.Phe29Leu) c.237C>G (p.Phe79Leu) | ClinVar dbSNP |
| 7 | g.150959657G= | CA1752419999 | KCNH2 | n.1220C= c.387C= (p.Phe129=) c.210C= (p.Phe70=) n.610C= c.87C= (p.Phe29=) c.237C= (p.Phe79=) | |
| 7 | g.150959657G>T | CA369863764 | KCNH2 | n.1220C>A c.387C>A (p.Phe129Leu) c.210C>A (p.Phe70Leu) n.610C>A c.87C>A (p.Phe29Leu) c.237C>A (p.Phe79Leu) | |
| 7 | g.150959660_150959671del | CA2695208665 | KCNH2 | n.1209_1220del c.376_387del (p.Ile126_Phe129del) c.199_210del (p.Ile67_Phe70del) n.599_610del c.76_87del (p.Ile26_Phe29del) c.226_237del (p.Ile76_Phe79del) | |
| 7 | g.150959658A>C | CA369863765 | KCNH2 | n.1219T>G c.386T>G (p.Phe129Cys) c.209T>G (p.Phe70Cys) n.609T>G c.86T>G (p.Phe29Cys) c.236T>G (p.Phe79Cys) | |
| 7 | g.150959658A>G | CA369863767 | KCNH2 | n.1219T>C c.386T>C (p.Phe129Ser) c.209T>C (p.Phe70Ser) n.609T>C c.86T>C (p.Phe29Ser) c.236T>C (p.Phe79Ser) | |
| 7 | g.150959658A>T | CA369863766 | KCNH2 | n.1219T>A c.386T>A (p.Phe129Tyr) c.209T>A (p.Phe70Tyr) n.609T>A c.86T>A (p.Phe29Tyr) c.236T>A (p.Phe79Tyr) | |
| 7 | g.150959659A>C | CA369863768 | KCNH2 | n.1218T>G c.385T>G (p.Phe129Val) c.208T>G (p.Phe70Val) n.608T>G c.85T>G (p.Phe29Val) c.235T>G (p.Phe79Val) | |
| 7 | g.150959659A>G | CA369863769 | KCNH2 | n.1218T>C c.385T>C (p.Phe129Leu) c.208T>C (p.Phe70Leu) n.608T>C c.85T>C (p.Phe29Leu) c.235T>C (p.Phe79Leu) | |
| 7 | g.150959659A>T | CA369863770 | KCNH2 | n.1218T>A c.385T>A (p.Phe129Ile) c.208T>A (p.Phe70Ile) n.608T>A c.85T>A (p.Phe29Ile) c.235T>A (p.Phe79Ile) | |
| 7 | g.150959660A>C | CA369863771 | KCNH2 | n.1217T>G c.384T>G (p.Asn128Lys) c.207T>G (p.Asn69Lys) n.607T>G c.84T>G (p.Asn28Lys) c.234T>G (p.Asn78Lys) | |
| 7 | g.150959660A>G | CA458646930 | KCNH2 | n.1217T>C c.384T>C (p.Asn128=) c.207T>C (p.Asn69=) n.607T>C c.84T>C (p.Asn28=) c.234T>C (p.Asn78=) | |
| 7 | g.150959660A>T | CA369863772 | KCNH2 | n.1217T>A c.384T>A (p.Asn128Lys) c.207T>A (p.Asn69Lys) n.607T>A c.84T>A (p.Asn28Lys) c.234T>A (p.Asn78Lys) | |
| 7 | g.150959661T>A | CA369863774 | KCNH2 | n.1216A>T c.383A>T (p.Asn128Ile) c.206A>T (p.Asn69Ile) n.606A>T c.83A>T (p.Asn28Ile) c.233A>T (p.Asn78Ile) | |
| 7 | g.150959661T>C | CA008400 | KCNH2 | n.1216A>G c.383A>G (p.Asn128Ser) c.206A>G (p.Asn69Ser) n.606A>G c.83A>G (p.Asn28Ser) c.233A>G (p.Asn78Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150959661T>G | CA369863773 | KCNH2 | n.1216A>C c.383A>C (p.Asn128Thr) c.206A>C (p.Asn69Thr) n.606A>C c.83A>C (p.Asn28Thr) c.233A>C (p.Asn78Thr) | ClinVar dbSNP |
| 7 | g.150959661T= | CA1752420003 | KCNH2 | n.1216A= c.383A= (p.Asn128=) c.206A= (p.Asn69=) n.606A= c.83A= (p.Asn28=) c.233A= (p.Asn78=) | |
| 7 | g.150959662T>A | CA369863775 | KCNH2 | n.1215A>T c.382A>T (p.Asn128Tyr) c.205A>T (p.Asn69Tyr) n.605A>T c.82A>T (p.Asn28Tyr) c.232A>T (p.Asn78Tyr) | |
| 7 | g.150959662T>C | CA369863777 | KCNH2 | n.1215A>G c.382A>G (p.Asn128Asp) c.205A>G (p.Asn69Asp) n.605A>G c.82A>G (p.Asn28Asp) c.232A>G (p.Asn78Asp) | |
| 7 | g.150959662T>G | CA369863776 | KCNH2 | n.1215A>C c.382A>C (p.Asn128His) c.205A>C (p.Asn69His) n.605A>C c.82A>C (p.Asn28His) c.232A>C (p.Asn78His) | |
| 7 | g.150959663G>A | CA458646932 | KCNH2 | n.1214C>T c.381C>T (p.Leu127=) c.204C>T (p.Leu68=) n.604C>T c.81C>T (p.Leu27=) c.231C>T (p.Leu77=) | |
| 7 | g.150959663G>C | CA458646933 | KCNH2 | n.1214C>G c.381C>G (p.Leu127=) c.204C>G (p.Leu68=) n.604C>G c.81C>G (p.Leu27=) c.231C>G (p.Leu77=) | |
| 7 | g.150959663G>T | CA458646931 | KCNH2 | n.1214C>A c.381C>A (p.Leu127=) c.204C>A (p.Leu68=) n.604C>A c.81C>A (p.Leu27=) c.231C>A (p.Leu77=) | |
| 7 | g.150959665_150959667del | CA2695208666 | KCNH2 | n.1212_1214del c.379_381del (p.Leu127del) c.202_204del (p.Leu68del) n.602_604del c.79_81del (p.Leu27del) c.229_231del (p.Leu77del) | |
| 7 | g.150959664A>C | CA369863778 | KCNH2 | n.1213T>G c.380T>G (p.Leu127Arg) c.203T>G (p.Leu68Arg) n.603T>G c.80T>G (p.Leu27Arg) c.230T>G (p.Leu77Arg) | |
| 7 | g.150959664A>G | CA369863779 | KCNH2 | n.1213T>C c.380T>C (p.Leu127Pro) c.203T>C (p.Leu68Pro) n.603T>C c.80T>C (p.Leu27Pro) c.230T>C (p.Leu77Pro) | |
| 7 | g.150959664A>T | CA369863780 | KCNH2 | n.1213T>A c.380T>A (p.Leu127His) c.203T>A (p.Leu68His) n.603T>A c.80T>A (p.Leu27His) c.230T>A (p.Leu77His) | |
| 7 | g.150959665G>A | CA008393 | KCNH2 | n.1212C>T c.379C>T (p.Leu127Phe) c.202C>T (p.Leu68Phe) n.602C>T c.79C>T (p.Leu27Phe) c.229C>T (p.Leu77Phe) | ClinVar dbSNP COSMIC |
| 7 | g.150959665G>C | CA369863781 | KCNH2 | n.1212C>G c.379C>G (p.Leu127Val) c.202C>G (p.Leu68Val) n.602C>G c.79C>G (p.Leu27Val) c.229C>G (p.Leu77Val) | |
| 7 | g.150959665G= | CA1752420008 | KCNH2 | n.1212C= c.379C= (p.Leu127=) c.202C= (p.Leu68=) n.602C= c.79C= (p.Leu27=) c.229C= (p.Leu77=) | |
| 7 | g.150959665G>T | CA369863782 | KCNH2 | n.1212C>A c.379C>A (p.Leu127Ile) c.202C>A (p.Leu68Ile) n.602C>A c.79C>A (p.Leu27Ile) c.229C>A (p.Leu77Ile) | |
| 7 | g.150959666G>A | CA458646934 | KCNH2 | n.1211C>T c.378C>T (p.Ile126=) c.201C>T (p.Ile67=) n.601C>T c.78C>T (p.Ile26=) c.228C>T (p.Ile76=) | |
| 7 | g.150959666G>C | CA369863783 | KCNH2 | n.1211C>G c.378C>G (p.Ile126Met) c.201C>G (p.Ile67Met) n.601C>G c.78C>G (p.Ile26Met) c.228C>G (p.Ile76Met) | |
| 7 | g.150959666G>T | CA458646935 | KCNH2 | n.1211C>A c.378C>A (p.Ile126=) c.201C>A (p.Ile67=) n.601C>A c.78C>A (p.Ile26=) c.228C>A (p.Ile76=) | gnomAD v4 |
| 7 | g.150959666_150959667insTTTTTT | CA2525755366 | KCNH2 | n.1210_1211insAAAAAA c.377_378insAAAAAA (p.Ile126_Leu127insLysAsn) c.200_201insAAAAAA (p.Ile67_Leu68insLysAsn) n.600_601insAAAAAA c.77_78insAAAAAA (p.Ile26_Leu27insLysAsn) c.227_228insAAAAAA (p.Ile76_Leu77insLysAsn) | |
| 7 | g.150959667A= | CA1752420012 | KCNH2 | n.1210T= c.377T= (p.Ile126=) c.200T= (p.Ile67=) n.600T= c.77T= (p.Ile26=) c.227T= (p.Ile76=) | |
| 7 | g.150959667A>C | CA369863784 | KCNH2 | n.1210T>G c.377T>G (p.Ile126Ser) c.200T>G (p.Ile67Ser) n.600T>G c.77T>G (p.Ile26Ser) c.227T>G (p.Ile76Ser) | |
| 7 | g.150959667A>G | CA369863785 | KCNH2 | n.1210T>C c.377T>C (p.Ile126Thr) c.200T>C (p.Ile67Thr) n.600T>C c.77T>C (p.Ile26Thr) c.227T>C (p.Ile76Thr) | |
| 7 | g.150959667A>T | CA369863786 | KCNH2 | n.1210T>A c.377T>A (p.Ile126Asn) c.200T>A (p.Ile67Asn) n.600T>A c.77T>A (p.Ile26Asn) c.227T>A (p.Ile76Asn) | ClinVar dbSNP |
| 7 | g.150959668T>A | CA369863787 | KCNH2 | n.1209A>T c.376A>T (p.Ile126Phe) c.199A>T (p.Ile67Phe) n.599A>T c.76A>T (p.Ile26Phe) c.226A>T (p.Ile76Phe) | ClinVar |
| 7 | g.150959668T>C | CA369863788 | KCNH2 | n.1209A>G c.376A>G (p.Ile126Val) c.199A>G (p.Ile67Val) n.599A>G c.76A>G (p.Ile26Val) c.226A>G (p.Ile76Val) | gnomAD v4 |
| 7 | g.150959668T>G | CA369863789 | KCNH2 | n.1209A>C c.376A>C (p.Ile126Leu) c.199A>C (p.Ile67Leu) n.599A>C c.76A>C (p.Ile26Leu) c.226A>C (p.Ile76Leu) | |
| 7 | g.150959668_150959672del | CA2511849902 | KCNH2 | n.1205_1209del c.372_376del (p.Met124IlefsTer19) c.195_199del (p.Met65IlefsTer?) n.595_599del c.72_76del (p.Met24IlefsTer19) c.222_226del (p.Met74IlefsTer19) c.195_199del (p.Met65IlefsTer19) | |
| 7 | g.150959669G>A | CA458646936 | KCNH2 | n.1208C>T c.375C>T (p.Phe125=) c.198C>T (p.Phe66=) n.598C>T c.75C>T (p.Phe25=) c.225C>T (p.Phe75=) | COSMIC COSMIC |