WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958298_150958372del | CA2685608128 | KCNH2 | n.1444_1518del c.611_685del (p.Ala204_Ala228del) c.263_337del (p.Ala88_Ala112del) n.834_908del c.311_385del (p.Ala104_Ala128del) c.461_535del (p.Ala154_Ala178del) c.434_508del (p.Ala145_Ala169del) | gnomAD v4 |
| 7 | g.150958322A>C | CA369862961 | KCNH2 | n.1486T>G c.653T>G (p.Met218Arg) c.305T>G (p.Met102Arg) n.876T>G c.353T>G (p.Met118Arg) c.503T>G (p.Met168Arg) c.476T>G (p.Met159Arg) | |
| 7 | g.150958322A>G | CA369862962 | KCNH2 | n.1486T>C c.653T>C (p.Met218Thr) c.305T>C (p.Met102Thr) n.876T>C c.353T>C (p.Met118Thr) c.503T>C (p.Met168Thr) c.476T>C (p.Met159Thr) | gnomAD v4 |
| 7 | g.150958322A>T | CA369862963 | KCNH2 | n.1486T>A c.653T>A (p.Met218Lys) c.305T>A (p.Met102Lys) n.876T>A c.353T>A (p.Met118Lys) c.503T>A (p.Met168Lys) c.476T>A (p.Met159Lys) | gnomAD v4 |
| 7 | g.150958323T>A | CA369862965 | KCNH2 | n.1485A>T c.652A>T (p.Met218Leu) c.304A>T (p.Met102Leu) n.875A>T c.352A>T (p.Met118Leu) c.502A>T (p.Met168Leu) c.475A>T (p.Met159Leu) | |
| 7 | g.150958323T>C | CA008645 | KCNH2 | n.1485A>G c.652A>G (p.Met218Val) c.304A>G (p.Met102Val) n.875A>G c.352A>G (p.Met118Val) c.502A>G (p.Met168Val) c.475A>G (p.Met159Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150958323T>G | CA369862968 | KCNH2 | n.1485A>C c.652A>C (p.Met218Leu) c.304A>C (p.Met102Leu) n.875A>C c.352A>C (p.Met118Leu) c.502A>C (p.Met168Leu) c.475A>C (p.Met159Leu) | |
| 7 | g.150958323T= | CA1752418421 | KCNH2 | n.1485A= c.652A= (p.Met218=) c.304A= (p.Met102=) n.875A= c.352A= (p.Met118=) c.502A= (p.Met168=) c.475A= (p.Met159=) | |
| 7 | g.150958324G>A | CA458646519 | KCNH2 | n.1484C>T c.651C>T (p.Ala217=) c.303C>T (p.Ala101=) n.874C>T c.351C>T (p.Ala117=) c.501C>T (p.Ala167=) c.474C>T (p.Ala158=) | dbSNP gnomAD v4 |
| 7 | g.150958324G>C | CA458646521 | KCNH2 | n.1484C>G c.651C>G (p.Ala217=) c.303C>G (p.Ala101=) n.874C>G c.351C>G (p.Ala117=) c.501C>G (p.Ala167=) c.474C>G (p.Ala158=) | gnomAD v4 |
| 7 | g.150958324G= | CA1752418427 | KCNH2 | n.1484C= c.651C= (p.Ala217=) c.303C= (p.Ala101=) n.874C= c.351C= (p.Ala117=) c.501C= (p.Ala167=) c.474C= (p.Ala158=) | |
| 7 | g.150958324G>T | CA458646523 | KCNH2 | n.1484C>A c.651C>A (p.Ala217=) c.303C>A (p.Ala101=) n.874C>A c.351C>A (p.Ala117=) c.501C>A (p.Ala167=) c.474C>A (p.Ala158=) | gnomAD v4 |
| 7 | g.150958324_150958325insAT | CA2567370311 | KCNH2 | n.1483_1484insAT c.650_651insAT (p.Met218SerfsTer?) c.302_303insAT (p.Met102SerfsTer?) n.873_874insAT c.350_351insAT (p.Met118SerfsTer?) c.500_501insAT (p.Met168SerfsTer?) c.473_474insAT (p.Met159SerfsTer?) | gnomAD v4 |
| 7 | g.150958325G>A | CA369862970 | KCNH2 | n.1483C>T c.650C>T (p.Ala217Val) c.302C>T (p.Ala101Val) n.873C>T c.350C>T (p.Ala117Val) c.500C>T (p.Ala167Val) c.473C>T (p.Ala158Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958325G>C | CA369862973 | KCNH2 | n.1483C>G c.650C>G (p.Ala217Gly) c.302C>G (p.Ala101Gly) n.873C>G c.350C>G (p.Ala117Gly) c.500C>G (p.Ala167Gly) c.473C>G (p.Ala158Gly) | gnomAD v4 |
| 7 | g.150958325G= | CA1752418429 | KCNH2 | n.1483C= c.650C= (p.Ala217=) c.302C= (p.Ala101=) n.873C= c.350C= (p.Ala117=) c.500C= (p.Ala167=) c.473C= (p.Ala158=) | |
| 7 | g.150958325G>T | CA369862971 | KCNH2 | n.1483C>A c.650C>A (p.Ala217Asp) c.302C>A (p.Ala101Asp) n.873C>A c.350C>A (p.Ala117Asp) c.500C>A (p.Ala167Asp) c.473C>A (p.Ala158Asp) | ClinVar gnomAD v4 |
| 7 | g.150958326C>A | CA369862975 | KCNH2 | n.1482G>T c.649G>T (p.Ala217Ser) c.301G>T (p.Ala101Ser) n.872G>T c.349G>T (p.Ala117Ser) c.499G>T (p.Ala167Ser) c.472G>T (p.Ala158Ser) | gnomAD v4 |
| 7 | g.150958326C>G | CA369862976 | KCNH2 | n.1482G>C c.649G>C (p.Ala217Pro) c.301G>C (p.Ala101Pro) n.872G>C c.349G>C (p.Ala117Pro) c.499G>C (p.Ala167Pro) c.472G>C (p.Ala158Pro) | gnomAD v4 |
| 7 | g.150958326C>T | CA369862978 | KCNH2 | n.1482G>A c.649G>A (p.Ala217Thr) c.301G>A (p.Ala101Thr) n.872G>A c.349G>A (p.Ala117Thr) c.499G>A (p.Ala167Thr) c.472G>A (p.Ala158Thr) | gnomAD v4 |
| 7 | g.150958326_150958327del | CA2546923698 | KCNH2 | n.1481_1482del c.648_649del (p.Ala217HisfsTer?) c.300_301del (p.Ala101HisfsTer?) n.871_872del c.348_349del (p.Ala117HisfsTer?) c.498_499del (p.Ala167HisfsTer?) c.471_472del (p.Ala158HisfsTer?) | gnomAD v4 |
| 7 | g.150958327del | CA2685608307 | KCNH2 | n.1481del c.648del (p.Ala217ProfsTer?) c.300del (p.Ala101ProfsTer?) n.871del c.348del (p.Ala117ProfsTer?) c.498del (p.Ala167ProfsTer?) c.471del (p.Ala158ProfsTer?) | gnomAD v4 |
| 7 | g.150958327T>A | CA458646529 | KCNH2 | n.1481A>T c.648A>T (p.Thr216=) c.300A>T (p.Thr100=) n.871A>T c.348A>T (p.Thr116=) c.498A>T (p.Thr166=) c.471A>T (p.Thr157=) | |
| 7 | g.150958327T>C | CA458646531 | KCNH2 | n.1481A>G c.648A>G (p.Thr216=) c.300A>G (p.Thr100=) n.871A>G c.348A>G (p.Thr116=) c.498A>G (p.Thr166=) c.471A>G (p.Thr157=) | gnomAD v4 |
| 7 | g.150958327T>G | CA458646532 | KCNH2 | n.1481A>C c.648A>C (p.Thr216=) c.300A>C (p.Thr100=) n.871A>C c.348A>C (p.Thr116=) c.498A>C (p.Thr166=) c.471A>C (p.Thr157=) | gnomAD v4 |
| 7 | g.150958328G>A | CA369862979 | KCNH2 | n.1480C>T c.647C>T (p.Thr216Ile) c.299C>T (p.Thr100Ile) n.870C>T c.347C>T (p.Thr116Ile) c.497C>T (p.Thr166Ile) c.470C>T (p.Thr157Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150958328G>C | CA369862981 | KCNH2 | n.1480C>G c.647C>G (p.Thr216Arg) c.299C>G (p.Thr100Arg) n.870C>G c.347C>G (p.Thr116Arg) c.497C>G (p.Thr166Arg) c.470C>G (p.Thr157Arg) | |
| 7 | g.150958328G= | CA1752418432 | KCNH2 | n.1480C= c.647C= (p.Thr216=) c.299C= (p.Thr100=) n.870C= c.347C= (p.Thr116=) c.497C= (p.Thr166=) c.470C= (p.Thr157=) | |
| 7 | g.150958328G>T | CA369862983 | KCNH2 | n.1480C>A c.647C>A (p.Thr216Lys) c.299C>A (p.Thr100Lys) n.870C>A c.347C>A (p.Thr116Lys) c.497C>A (p.Thr166Lys) c.470C>A (p.Thr157Lys) | dbSNP gnomAD v4 |
| 7 | g.150958329T>A | CA369862984 | KCNH2 | n.1479A>T c.646A>T (p.Thr216Ser) c.298A>T (p.Thr100Ser) n.869A>T c.346A>T (p.Thr116Ser) c.496A>T (p.Thr166Ser) c.469A>T (p.Thr157Ser) | gnomAD v4 |
| 7 | g.150958329T>C | CA369862986 | KCNH2 | n.1479A>G c.646A>G (p.Thr216Ala) c.298A>G (p.Thr100Ala) n.869A>G c.346A>G (p.Thr116Ala) c.496A>G (p.Thr166Ala) c.469A>G (p.Thr157Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958329T>G | CA369862988 | KCNH2 | n.1479A>C c.646A>C (p.Thr216Pro) c.298A>C (p.Thr100Pro) n.869A>C c.346A>C (p.Thr116Pro) c.496A>C (p.Thr166Pro) c.469A>C (p.Thr157Pro) | |
| 7 | g.150958329T= | CA1752418436 | KCNH2 | n.1479A= c.646A= (p.Thr216=) c.298A= (p.Thr100=) n.869A= c.346A= (p.Thr116=) c.496A= (p.Thr166=) c.469A= (p.Thr157=) | |
| 7 | g.150958330C>A | CA458646538 | KCNH2 | n.1478G>T c.645G>T (p.Val215=) c.297G>T (p.Val99=) n.868G>T c.345G>T (p.Val115=) c.495G>T (p.Val165=) c.468G>T (p.Val156=) | gnomAD v4 |
| 7 | g.150958330C>G | CA458646541 | KCNH2 | n.1478G>C c.645G>C (p.Val215=) c.297G>C (p.Val99=) n.868G>C c.345G>C (p.Val115=) c.495G>C (p.Val165=) c.468G>C (p.Val156=) | |
| 7 | g.150958330C>T | CA458646540 | KCNH2 | n.1478G>A c.645G>A (p.Val215=) c.297G>A (p.Val99=) n.868G>A c.345G>A (p.Val115=) c.495G>A (p.Val165=) c.468G>A (p.Val156=) | gnomAD v4 |
| 7 | g.150958331A= | CA1752418439 | KCNH2 | n.1477T= c.644T= (p.Val215=) c.296T= (p.Val99=) n.867T= c.344T= (p.Val115=) c.494T= (p.Val165=) c.467T= (p.Val156=) | |
| 7 | g.150958331A>C | CA008637 | KCNH2 | n.1477T>G c.644T>G (p.Val215Gly) c.296T>G (p.Val99Gly) n.867T>G c.344T>G (p.Val115Gly) c.494T>G (p.Val165Gly) c.467T>G (p.Val156Gly) | ClinVar dbSNP |
| 7 | g.150958331A>G | CA369862993 | KCNH2 | n.1477T>C c.644T>C (p.Val215Ala) c.296T>C (p.Val99Ala) n.867T>C c.344T>C (p.Val115Ala) c.494T>C (p.Val165Ala) c.467T>C (p.Val156Ala) | gnomAD v4 |
| 7 | g.150958331A>T | CA369862990 | KCNH2 | n.1477T>A c.644T>A (p.Val215Glu) c.296T>A (p.Val99Glu) n.867T>A c.344T>A (p.Val115Glu) c.494T>A (p.Val165Glu) c.467T>A (p.Val156Glu) | gnomAD v4 |
| 7 | g.150958332C>A | CA369862994 | KCNH2 | n.1476G>T c.643G>T (p.Val215Leu) c.295G>T (p.Val99Leu) n.866G>T c.343G>T (p.Val115Leu) c.493G>T (p.Val165Leu) c.466G>T (p.Val156Leu) | gnomAD v4 |
| 7 | g.150958332C>G | CA369862996 | KCNH2 | n.1476G>C c.643G>C (p.Val215Leu) c.295G>C (p.Val99Leu) n.866G>C c.343G>C (p.Val115Leu) c.493G>C (p.Val165Leu) c.466G>C (p.Val156Leu) | |
| 7 | g.150958332C>T | CA369862997 | KCNH2 | n.1476G>A c.643G>A (p.Val215Met) c.295G>A (p.Val99Met) n.866G>A c.343G>A (p.Val115Met) c.493G>A (p.Val165Met) c.466G>A (p.Val156Met) | gnomAD v4 |
| 7 | g.150958333T>A | CA369862999 | KCNH2 | n.1475A>T c.642A>T (p.Glu214Asp) c.294A>T (p.Glu98Asp) n.865A>T c.342A>T (p.Glu114Asp) c.492A>T (p.Glu164Asp) c.465A>T (p.Glu155Asp) | gnomAD v4 |
| 7 | g.150958333T>C | CA458646547 | KCNH2 | n.1475A>G c.642A>G (p.Glu214=) c.294A>G (p.Glu98=) n.865A>G c.342A>G (p.Glu114=) c.492A>G (p.Glu164=) c.465A>G (p.Glu155=) | dbSNP gnomAD v4 |
| 7 | g.150958333T>G | CA369863000 | KCNH2 | n.1475A>C c.642A>C (p.Glu214Asp) c.294A>C (p.Glu98Asp) n.865A>C c.342A>C (p.Glu114Asp) c.492A>C (p.Glu164Asp) c.465A>C (p.Glu155Asp) | |
| 7 | g.150958333T= | CA1752418443 | KCNH2 | n.1475A= c.642A= (p.Glu214=) c.294A= (p.Glu98=) n.865A= c.342A= (p.Glu114=) c.492A= (p.Glu164=) c.465A= (p.Glu155=) | |
| 7 | g.150958334T>A | CA369863002 | KCNH2 | n.1474A>T c.641A>T (p.Glu214Val) c.293A>T (p.Glu98Val) n.864A>T c.341A>T (p.Glu114Val) c.491A>T (p.Glu164Val) c.464A>T (p.Glu155Val) | |
| 7 | g.150958334T>C | CA369863004 | KCNH2 | n.1474A>G c.641A>G (p.Glu214Gly) c.293A>G (p.Glu98Gly) n.864A>G c.341A>G (p.Glu114Gly) c.491A>G (p.Glu164Gly) c.464A>G (p.Glu155Gly) | gnomAD v4 |
| 7 | g.150958334T>G | CA369863005 | KCNH2 | n.1474A>C c.641A>C (p.Glu214Ala) c.293A>C (p.Glu98Ala) n.864A>C c.341A>C (p.Glu114Ala) c.491A>C (p.Glu164Ala) c.464A>C (p.Glu155Ala) |