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 |
|---|---|---|---|---|---|
| X | g.154961147T>A | CA414912853 | F8 | c.1465A>T (p.Ser489Cys) c.*1341A>T (n.*1341A>T) c.1360A>T (p.Ser454Cys) | |
| X | g.154961147T>C | CA414912855 | F8 | c.1465A>G (p.Ser489Gly) c.*1341A>G (n.*1341A>G) c.1360A>G (p.Ser454Gly) | |
| X | g.154961147T>G | CA414912857 | F8 | c.1465A>C (p.Ser489Arg) c.*1341A>C (n.*1341A>C) c.1360A>C (p.Ser454Arg) | |
| X | g.154961148T>A | CA519361214 | F8 | c.1464A>T (p.Ala488=) c.*1340A>T (n.*1340A>T) c.1359A>T (p.Ala453=) | |
| X | g.154961148T>C | CA519361216 | F8 | c.1464A>G (p.Ala488=) c.*1340A>G (n.*1340A>G) c.1359A>G (p.Ala453=) | |
| X | g.154961148T>G | CA519361217 | F8 | c.1464A>C (p.Ala488=) c.*1340A>C (n.*1340A>C) c.1359A>C (p.Ala453=) | |
| X | g.154961149G>A | CA414912858 | F8 | c.1463C>T (p.Ala488Val) c.*1339C>T (n.*1339C>T) c.1358C>T (p.Ala453Val) | dbSNP |
| X | g.154961149G>C | CA10568452 | F8 | c.1463C>G (p.Ala488Gly) c.*1339C>G (n.*1339C>G) c.1358C>G (p.Ala453Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154961149G= | CA2466846507 | F8 | c.1463C= (p.Ala488=) c.*1339C= (n.*1339C=) c.1358C= (p.Ala453=) | |
| X | g.154961149G>T | CA414912860 | F8 | c.1463C>A (p.Ala488Glu) c.*1339C>A (n.*1339C>A) c.1358C>A (p.Ala453Glu) | COSMIC COSMIC |
| X | g.154961150C>A | CA414912863 | F8 | c.1462G>T (p.Ala488Ser) c.*1338G>T (n.*1338G>T) c.1357G>T (p.Ala453Ser) | |
| X | g.154961150C>G | CA414912864 | F8 | c.1462G>C (p.Ala488Pro) c.*1338G>C (n.*1338G>C) c.1357G>C (p.Ala453Pro) | ClinVar |
| X | g.154961150C>T | CA414912862 | F8 | c.1462G>A (p.Ala488Thr) c.*1338G>A (n.*1338G>A) c.1357G>A (p.Ala453Thr) | gnomAD v4 |
| X | g.154961153_154961159dup | CA2695237277 | F8 | c.1456_1462dup (p.Ala488GlufsTer8) c.*1332_*1338dup (n.*1332_*1338dup) c.1351_1357dup (p.Ala453GlufsTer8) | |
| X | g.154961151T>A | CA414912865 | F8 | c.1461A>T (p.Gln487His) c.*1337A>T (n.*1337A>T) c.1356A>T (p.Gln452His) | |
| X | g.154961151T>C | CA519361246 | F8 | c.1461A>G (p.Gln487=) c.*1337A>G (n.*1337A>G) c.1356A>G (p.Gln452=) | |
| X | g.154961151T>G | CA414912866 | F8 | c.1461A>C (p.Gln487His) c.*1337A>C (n.*1337A>C) c.1356A>C (p.Gln452His) | |
| X | g.154961152T>A | CA414912869 | F8 | c.1460A>T (p.Gln487Leu) c.*1336A>T (n.*1336A>T) c.1355A>T (p.Gln452Leu) | |
| X | g.154961152T>C | CA414912872 | F8 | c.1460A>G (p.Gln487Arg) c.*1336A>G (n.*1336A>G) c.1355A>G (p.Gln452Arg) | gnomAD v4 |
| X | g.154961152T>G | CA414912874 | F8 | c.1460A>C (p.Gln487Pro) c.*1336A>C (n.*1336A>C) c.1355A>C (p.Gln452Pro) | |
| X | g.154961153del | CA2579744732 | F8 | c.1459del (p.Gln487LysfsTer28) c.*1335del (n.*1335del) c.1354del (p.Gln452LysfsTer28) | |
| X | g.154961153G>A | CA414912879 | F8 | c.1459C>T (p.Gln487Ter) c.*1335C>T (n.*1335C>T) c.1354C>T (p.Gln452Ter) | dbSNP |
| X | g.154961153G>C | CA414912875 | F8 | c.1459C>G (p.Gln487Glu) c.*1335C>G (n.*1335C>G) c.1354C>G (p.Gln452Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154961153G= | CA2466846508 | F8 | c.1459C= (p.Gln487=) c.*1335C= (n.*1335C=) c.1354C= (p.Gln452=) | |
| X | g.154961153G>T | CA414912877 | F8 | c.1459C>A (p.Gln487Lys) c.*1335C>A (n.*1335C>A) c.1354C>A (p.Gln452Lys) | gnomAD v4 |
| X | g.154961154A>C | CA414912880 | F8 | c.1458T>G (p.Asn486Lys) c.*1334T>G (n.*1334T>G) c.1353T>G (p.Asn451Lys) | |
| X | g.154961154A>G | CA519361297 | F8 | c.1458T>C (p.Asn486=) c.*1334T>C (n.*1334T>C) c.1353T>C (p.Asn451=) | |
| X | g.154961154A>T | CA414912881 | F8 | c.1458T>A (p.Asn486Lys) c.*1334T>A (n.*1334T>A) c.1353T>A (p.Asn451Lys) | |
| X | g.154961155T>A | CA414912884 | F8 | c.1457A>T (p.Asn486Ile) c.*1333A>T (n.*1333A>T) c.1352A>T (p.Asn451Ile) | ClinVar |
| X | g.154961155T>C | CA414912886 | F8 | c.1457A>G (p.Asn486Ser) c.*1333A>G (n.*1333A>G) c.1352A>G (p.Asn451Ser) | gnomAD v4 |
| X | g.154961155T>G | CA414912888 | F8 | c.1457A>C (p.Asn486Thr) c.*1333A>C (n.*1333A>C) c.1352A>C (p.Asn451Thr) | |
| X | g.154961156T>A | CA414912890 | F8 | c.1456A>T (p.Asn486Tyr) c.*1332A>T (n.*1332A>T) c.1351A>T (p.Asn451Tyr) | |
| X | g.154961156T>C | CA414912892 | F8 | c.1456A>G (p.Asn486Asp) c.*1332A>G (n.*1332A>G) c.1351A>G (p.Asn451Asp) | gnomAD v4 |
| X | g.154961156T>G | CA414912891 | F8 | c.1456A>C (p.Asn486His) c.*1332A>C (n.*1332A>C) c.1351A>C (p.Asn451His) | |
| X | g.154961157C>A | CA414912893 | F8 | c.1455G>T (p.Lys485Asn) c.*1331G>T (n.*1331G>T) c.1350G>T (p.Lys450Asn) | gnomAD v4 |
| X | g.154961157C>G | CA414912894 | F8 | c.1455G>C (p.Lys485Asn) c.*1331G>C (n.*1331G>C) c.1350G>C (p.Lys450Asn) | |
| X | g.154961157C>T | CA519361325 | F8 | c.1455G>A (p.Lys485=) c.*1331G>A (n.*1331G>A) c.1350G>A (p.Lys450=) | gnomAD v4 COSMIC COSMIC |
| X | g.154961158T>A | CA414912895 | F8 | c.1454A>T (p.Lys485Met) c.*1330A>T (n.*1330A>T) c.1349A>T (p.Lys450Met) | |
| X | g.154961158T>C | CA414912897 | F8 | c.1454A>G (p.Lys485Arg) c.*1330A>G (n.*1330A>G) c.1349A>G (p.Lys450Arg) | dbSNP gnomAD v4 |
| X | g.154961158T>G | CA414912898 | F8 | c.1454A>C (p.Lys485Thr) c.*1330A>C (n.*1330A>C) c.1349A>C (p.Lys450Thr) | |
| X | g.154961158T= | CA2466846509 | F8 | c.1454A= (p.Lys485=) c.*1330A= (n.*1330A=) c.1349A= (p.Lys450=) | |
| X | g.154961159T>A | CA414912899 | F8 | c.1453A>T (p.Lys485Ter) c.*1329A>T (n.*1329A>T) c.1348A>T (p.Lys450Ter) | dbSNP gnomAD v4 |
| X | g.154961159T>C | CA414912900 | F8 | c.1453A>G (p.Lys485Glu) c.*1329A>G (n.*1329A>G) c.1348A>G (p.Lys450Glu) | gnomAD v4 |
| X | g.154961159T>G | CA414912902 | F8 | c.1453A>C (p.Lys485Gln) c.*1329A>C (n.*1329A>C) c.1348A>C (p.Lys450Gln) | |
| X | g.154961159T= | CA2466846510 | F8 | c.1453A= (p.Lys485=) c.*1329A= (n.*1329A=) c.1348A= (p.Lys450=) | |
| X | g.154961160A>C | CA414912903 | F8 | c.1452T>G (p.Phe484Leu) c.*1328T>G (n.*1328T>G) c.1347T>G (p.Phe449Leu) | |
| X | g.154961160A>G | CA519361367 | F8 | c.1452T>C (p.Phe484=) c.*1328T>C (n.*1328T>C) c.1347T>C (p.Phe449=) | |
| X | g.154961160A>T | CA414912904 | F8 | c.1452T>A (p.Phe484Leu) c.*1328T>A (n.*1328T>A) c.1347T>A (p.Phe449Leu) | |
| X | g.154961162del | CA2552055364 | F8 | c.1452del (p.Phe484LeufsTer?) c.*1328del (n.*1328del) c.1347del (p.Phe449LeufsTer?) | |
| X | g.154961161A= | CA2466846511 | F8 | c.1451T= (p.Phe484=) c.*1327T= (n.*1327T=) c.1346T= (p.Phe449=) |