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 |
|---|---|---|---|---|---|
| 1 | g.40838474C>A | CA339891469 | KCNQ4 | c.2039C>A (p.Ser680Tyr) c.1620C>A n.1358C>A c.1877C>A (p.Ser626Tyr) c.1022C>A (p.Ser341Tyr) | |
| 1 | g.40838474C= | CA1164553130 | KCNQ4 | c.2039C= (p.Ser680=) c.1620C= n.1358C= c.1877C= (p.Ser626=) c.1022C= (p.Ser341=) | |
| 1 | g.40838474C>G | CA339891467 | KCNQ4 | c.2039C>G (p.Ser680Cys) c.1620C>G n.1358C>G c.1877C>G (p.Ser626Cys) c.1022C>G (p.Ser341Cys) | gnomAD v4 |
| 1 | g.40838474C>T | CA347366 | KCNQ4 | c.2039C>T (p.Ser680Phe) c.1620C>T n.1358C>T c.1877C>T (p.Ser626Phe) c.1022C>T (p.Ser341Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40838475C>A | CA417358377 | KCNQ4 | c.2040C>A (p.Ser680=) c.1621C>A n.1359C>A c.1878C>A (p.Ser626=) c.1023C>A (p.Ser341=) | gnomAD v4 |
| 1 | g.40838475C= | CA1143559620 | KCNQ4 | c.2040C= (p.Ser680=) c.1621C= n.1359C= c.1878C= (p.Ser626=) c.1023C= (p.Ser341=) | |
| 1 | g.40838475C>G | CA417358378 | KCNQ4 | c.2040C>G (p.Ser680=) c.1621C>G n.1359C>G c.1878C>G (p.Ser626=) c.1023C>G (p.Ser341=) | |
| 1 | g.40838475C>T | CA21088745 | KCNQ4 | c.2040C>T (p.Ser680=) c.1621C>T n.1359C>T c.1878C>T (p.Ser626=) c.1023C>T (p.Ser341=) | dbSNP gnomAD v4 |
| 1 | g.40838476G>A | CA339891486 | KCNQ4 | c.2041G>A (p.Ala681Thr) c.1622G>A n.1360G>A c.1879G>A (p.Ala627Thr) c.1024G>A (p.Ala342Thr) | |
| 1 | g.40838476G>C | CA339891483 | KCNQ4 | c.2041G>C (p.Ala681Pro) c.1622G>C n.1360G>C c.1879G>C (p.Ala627Pro) c.1024G>C (p.Ala342Pro) | |
| 1 | g.40838476G>T | CA339891489 | KCNQ4 | c.2041G>T (p.Ala681Ser) c.1622G>T n.1360G>T c.1879G>T (p.Ala627Ser) c.1024G>T (p.Ala342Ser) | gnomAD v4 |
| 1 | g.40838476_40838477delinsGC | CA1164553131 | KCNQ4 | c.2041_2042delinsGC (p.Ala681=) c.1622_1623delinsGC n.1360_1361delinsGC c.1879_1880delinsGC (p.Ala627=) c.1024_1025delinsGC (p.Ala342=) | |
| 1 | g.40838477del | CA522803643 | KCNQ4 | c.2042del (p.Ala681AspfsTer?) c.1623del n.1361del c.1880del (p.Ala627AspfsTer?) c.1025del (p.Ala342AspfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40838477C>A | CA339891491 | KCNQ4 | c.2042C>A (p.Ala681Glu) c.1623C>A n.1361C>A c.1880C>A (p.Ala627Glu) c.1025C>A (p.Ala342Glu) | |
| 1 | g.40838477C>G | CA339891495 | KCNQ4 | c.2042C>G (p.Ala681Gly) c.1623C>G n.1361C>G c.1880C>G (p.Ala627Gly) c.1025C>G (p.Ala342Gly) | gnomAD v4 |
| 1 | g.40838477C>T | CA339891497 | KCNQ4 | c.2042C>T (p.Ala681Val) c.1623C>T n.1361C>T c.1880C>T (p.Ala627Val) c.1025C>T (p.Ala342Val) | |
| 1 | g.40838478A= | CA1164553132 | KCNQ4 | c.2043A= (p.Ala681=) c.1624A= n.1362A= c.1881A= (p.Ala627=) c.1026A= (p.Ala342=) | |
| 1 | g.40838478A>C | CA417358379 | KCNQ4 | c.2043A>C (p.Ala681=) c.1624A>C n.1362A>C c.1881A>C (p.Ala627=) c.1026A>C (p.Ala342=) | |
| 1 | g.40838478A>G | CA417358380 | KCNQ4 | c.2043A>G (p.Ala681=) c.1624A>G n.1362A>G c.1881A>G (p.Ala627=) c.1026A>G (p.Ala342=) | dbSNP |
| 1 | g.40838478A>T | CA417358382 | KCNQ4 | c.2043A>T (p.Ala681=) c.1624A>T n.1362A>T c.1881A>T (p.Ala627=) c.1026A>T (p.Ala342=) | |
| 1 | g.40838479C>A | CA339891500 | KCNQ4 | c.2044C>A (p.Gln682Lys) c.1625C>A n.1363C>A c.1882C>A (p.Gln628Lys) c.1027C>A (p.Gln343Lys) | |
| 1 | g.40838479C>G | CA339891502 | KCNQ4 | c.2044C>G (p.Gln682Glu) c.1625C>G n.1363C>G c.1882C>G (p.Gln628Glu) c.1027C>G (p.Gln343Glu) | gnomAD v4 |
| 1 | g.40838479C>T | CA339891505 | KCNQ4 | c.2044C>T (p.Gln682Ter) c.1625C>T n.1363C>T c.1882C>T (p.Gln628Ter) c.1027C>T (p.Gln343Ter) | |
| 1 | g.40838480A>C | CA339891513 | KCNQ4 | c.2045A>C (p.Gln682Pro) c.1626A>C n.1364A>C c.1883A>C (p.Gln628Pro) c.1028A>C (p.Gln343Pro) | |
| 1 | g.40838480A>G | CA339891508 | KCNQ4 | c.2045A>G (p.Gln682Arg) c.1626A>G n.1364A>G c.1883A>G (p.Gln628Arg) c.1028A>G (p.Gln343Arg) | |
| 1 | g.40838480A>T | CA339891510 | KCNQ4 | c.2045A>T (p.Gln682Leu) c.1626A>T n.1364A>T c.1883A>T (p.Gln628Leu) c.1028A>T (p.Gln343Leu) | |
| 1 | g.40838481G>A | CA417358385 | KCNQ4 | c.2046G>A (p.Gln682=) c.1627G>A n.1365G>A c.1884G>A (p.Gln628=) c.1029G>A (p.Gln343=) | |
| 1 | g.40838481G>C | CA339891518 | KCNQ4 | c.2046G>C (p.Gln682His) c.1627G>C n.1365G>C c.1884G>C (p.Gln628His) c.1029G>C (p.Gln343His) | |
| 1 | g.40838481G>T | CA339891520 | KCNQ4 | c.2046G>T (p.Gln682His) c.1627G>T n.1365G>T c.1884G>T (p.Gln628His) c.1029G>T (p.Gln343His) | |
| 1 | g.40838482A>C | CA339891524 | KCNQ4 | c.2047A>C (p.Thr683Pro) c.1628A>C n.1366A>C c.1885A>C (p.Thr629Pro) c.1030A>C (p.Thr344Pro) | gnomAD v4 |
| 1 | g.40838482A>G | CA339891527 | KCNQ4 | c.2047A>G (p.Thr683Ala) c.1628A>G n.1366A>G c.1885A>G (p.Thr629Ala) c.1030A>G (p.Thr344Ala) | |
| 1 | g.40838482A>T | CA339891530 | KCNQ4 | c.2047A>T (p.Thr683Ser) c.1628A>T n.1366A>T c.1885A>T (p.Thr629Ser) c.1030A>T (p.Thr344Ser) | |
| 1 | g.40838483C>A | CA21088746 | KCNQ4 | c.2048C>A (p.Thr683Lys) c.1629C>A n.1367C>A c.1886C>A (p.Thr629Lys) c.1031C>A (p.Thr344Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.40838483C= | CA1164553133 | KCNQ4 | c.2048C= (p.Thr683=) c.1629C= n.1367C= c.1886C= (p.Thr629=) c.1031C= (p.Thr344=) | |
| 1 | g.40838483C>G | CA339891536 | KCNQ4 | c.2048C>G (p.Thr683Arg) c.1629C>G n.1367C>G c.1886C>G (p.Thr629Arg) c.1031C>G (p.Thr344Arg) | gnomAD v4 |
| 1 | g.40838483C>T | CA339891534 | KCNQ4 | c.2048C>T (p.Thr683Met) c.1629C>T n.1367C>T c.1886C>T (p.Thr629Met) c.1031C>T (p.Thr344Met) | gnomAD v4 |
| 1 | g.40838484G>A | CA795061 | KCNQ4 | c.2049G>A (p.Thr683=) c.1630G>A n.1368G>A c.1887G>A (p.Thr629=) c.1032G>A (p.Thr344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40838484G>C | CA417358390 | KCNQ4 | c.2049G>C (p.Thr683=) c.1630G>C n.1368G>C c.1887G>C (p.Thr629=) c.1032G>C (p.Thr344=) | |
| 1 | g.40838484G= | CA1164553134 | KCNQ4 | c.2049G= (p.Thr683=) c.1630G= n.1368G= c.1887G= (p.Thr629=) c.1032G= (p.Thr344=) | |
| 1 | g.40838484G>T | CA417358389 | KCNQ4 | c.2049G>T (p.Thr683=) c.1630G>T n.1368G>T c.1887G>T (p.Thr629=) c.1032G>T (p.Thr344=) | dbSNP gnomAD v4 |
| 1 | g.40838485C>A | CA339891542 | KCNQ4 | c.2050C>A (p.Leu684Ile) c.1631C>A n.1369C>A c.1888C>A (p.Leu630Ile) c.1033C>A (p.Leu345Ile) | |
| 1 | g.40838485C>G | CA339891545 | KCNQ4 | c.2050C>G (p.Leu684Val) c.1631C>G n.1369C>G c.1888C>G (p.Leu630Val) c.1033C>G (p.Leu345Val) | |
| 1 | g.40838485C>T | CA339891547 | KCNQ4 | c.2050C>T (p.Leu684Phe) c.1631C>T n.1369C>T c.1888C>T (p.Leu630Phe) c.1033C>T (p.Leu345Phe) | |
| 1 | g.40838486T>A | CA339891550 | KCNQ4 | c.2051T>A (p.Leu684His) c.1632T>A n.1370T>A c.1889T>A (p.Leu630His) c.1034T>A (p.Leu345His) | |
| 1 | g.40838486T>C | CA339891552 | KCNQ4 | c.2051T>C (p.Leu684Pro) c.1632T>C n.1370T>C c.1889T>C (p.Leu630Pro) c.1034T>C (p.Leu345Pro) | |
| 1 | g.40838486T>G | CA339891556 | KCNQ4 | c.2051T>G (p.Leu684Arg) c.1632T>G n.1370T>G c.1889T>G (p.Leu630Arg) c.1034T>G (p.Leu345Arg) | |
| 1 | g.40838487C>A | CA417358394 | KCNQ4 | c.2052C>A (p.Leu684=) c.1633C>A n.1371C>A c.1890C>A (p.Leu630=) c.1035C>A (p.Leu345=) | |
| 1 | g.40838487C>G | CA417358396 | KCNQ4 | c.2052C>G (p.Leu684=) c.1633C>G n.1371C>G c.1890C>G (p.Leu630=) c.1035C>G (p.Leu345=) | |
| 1 | g.40838487C>T | CA417358395 | KCNQ4 | c.2052C>T (p.Leu684=) c.1633C>T n.1371C>T c.1890C>T (p.Leu630=) c.1035C>T (p.Leu345=) | |
| 1 | g.40838488A= | CA1147205773 | KCNQ4 | c.2053A= (p.Ser685=) c.1634A= n.1372A= c.1891A= (p.Ser631=) c.1036A= (p.Ser346=) |