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 |
|---|---|---|---|---|---|
| 3 | g.38551033T>A | CA352141407 | SCN5A | c.5336A>T (p.Glu1779Val) c.5339A>T (p.Glu1780Val) c.5285A>T (p.Glu1762Val) c.5177A>T (p.Glu1726Val) c.5240A>T (p.Glu1747Val) c.5210A>T (p.Glu1737Val) c.5282A>T (p.Glu1761Val) | |
| 3 | g.38551033T>C | CA352141409 | SCN5A | c.5336A>G (p.Glu1779Gly) c.5339A>G (p.Glu1780Gly) c.5285A>G (p.Glu1762Gly) c.5177A>G (p.Glu1726Gly) c.5240A>G (p.Glu1747Gly) c.5210A>G (p.Glu1737Gly) c.5282A>G (p.Glu1761Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551033T>G | CA352141410 | SCN5A | c.5336A>C (p.Glu1779Ala) c.5339A>C (p.Glu1780Ala) c.5285A>C (p.Glu1762Ala) c.5177A>C (p.Glu1726Ala) c.5240A>C (p.Glu1747Ala) c.5210A>C (p.Glu1737Ala) c.5282A>C (p.Glu1761Ala) | |
| 3 | g.38551033T= | CA1358557232 | SCN5A | c.5336A= (p.Glu1779=) c.5339A= (p.Glu1780=) c.5285A= (p.Glu1762=) c.5177A= (p.Glu1726=) c.5240A= (p.Glu1747=) c.5210A= (p.Glu1737=) c.5282A= (p.Glu1761=) | |
| 3 | g.38551034C>A | CA352141412 | SCN5A | c.5335G>T (p.Glu1779Ter) c.5338G>T (p.Glu1780Ter) c.5284G>T (p.Glu1762Ter) c.5176G>T (p.Glu1726Ter) c.5239G>T (p.Glu1747Ter) c.5209G>T (p.Glu1737Ter) c.5281G>T (p.Glu1761Ter) | dbSNP |
| 3 | g.38551034C= | CA1358557234 | SCN5A | c.5335G= (p.Glu1779=) c.5338G= (p.Glu1780=) c.5284G= (p.Glu1762=) c.5176G= (p.Glu1726=) c.5239G= (p.Glu1747=) c.5209G= (p.Glu1737=) c.5281G= (p.Glu1761=) | |
| 3 | g.38551034C>G | CA352141414 | SCN5A | c.5335G>C (p.Glu1779Gln) c.5338G>C (p.Glu1780Gln) c.5284G>C (p.Glu1762Gln) c.5176G>C (p.Glu1726Gln) c.5239G>C (p.Glu1747Gln) c.5209G>C (p.Glu1737Gln) c.5281G>C (p.Glu1761Gln) | |
| 3 | g.38551034C>T | CA352141416 | SCN5A | c.5335G>A (p.Glu1779Lys) c.5338G>A (p.Glu1780Lys) c.5284G>A (p.Glu1762Lys) c.5176G>A (p.Glu1726Lys) c.5239G>A (p.Glu1747Lys) c.5209G>A (p.Glu1737Lys) c.5281G>A (p.Glu1761Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551035C>A | CA433331947 | SCN5A | c.5334G>T (p.Thr1778=) c.5337G>T (p.Thr1779=) c.5283G>T (p.Thr1761=) c.5175G>T (p.Thr1725=) c.5238G>T (p.Thr1746=) c.5208G>T (p.Thr1736=) c.5280G>T (p.Thr1760=) | |
| 3 | g.38551035C= | CA1358557236 | SCN5A | c.5334G= (p.Thr1778=) c.5337G= (p.Thr1779=) c.5283G= (p.Thr1761=) c.5175G= (p.Thr1725=) c.5238G= (p.Thr1746=) c.5208G= (p.Thr1736=) c.5280G= (p.Thr1760=) | |
| 3 | g.38551035C>G | CA433331949 | SCN5A | c.5334G>C (p.Thr1778=) c.5337G>C (p.Thr1779=) c.5283G>C (p.Thr1761=) c.5175G>C (p.Thr1725=) c.5238G>C (p.Thr1746=) c.5208G>C (p.Thr1736=) c.5280G>C (p.Thr1760=) | |
| 3 | g.38551035C>T | CA064333 | SCN5A | c.5334G>A (p.Thr1778=) c.5337G>A (p.Thr1779=) c.5283G>A (p.Thr1761=) c.5175G>A (p.Thr1725=) c.5238G>A (p.Thr1746=) c.5208G>A (p.Thr1736=) c.5280G>A (p.Thr1760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551036G>A | CA019134 | SCN5A | c.5333C>T (p.Thr1778Met) c.5336C>T (p.Thr1779Met) c.5282C>T (p.Thr1761Met) c.5174C>T (p.Thr1725Met) c.5237C>T (p.Thr1746Met) c.5207C>T (p.Thr1736Met) c.5279C>T (p.Thr1760Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551036G>C | CA352141423 | SCN5A | c.5333C>G (p.Thr1778Arg) c.5336C>G (p.Thr1779Arg) c.5282C>G (p.Thr1761Arg) c.5174C>G (p.Thr1725Arg) c.5237C>G (p.Thr1746Arg) c.5207C>G (p.Thr1736Arg) c.5279C>G (p.Thr1760Arg) | |
| 3 | g.38551036G= | CA1358557243 | SCN5A | c.5333C= (p.Thr1778=) c.5336C= (p.Thr1779=) c.5282C= (p.Thr1761=) c.5174C= (p.Thr1725=) c.5237C= (p.Thr1746=) c.5207C= (p.Thr1736=) c.5279C= (p.Thr1760=) | |
| 3 | g.38551036G>T | CA352141421 | SCN5A | c.5333C>A (p.Thr1778Lys) c.5336C>A (p.Thr1779Lys) c.5282C>A (p.Thr1761Lys) c.5174C>A (p.Thr1725Lys) c.5237C>A (p.Thr1746Lys) c.5207C>A (p.Thr1736Lys) c.5279C>A (p.Thr1760Lys) | |
| 3 | g.38551037T>A | CA352141425 | SCN5A | c.5332A>T (p.Thr1778Ser) c.5335A>T (p.Thr1779Ser) c.5281A>T (p.Thr1761Ser) c.5173A>T (p.Thr1725Ser) c.5236A>T (p.Thr1746Ser) c.5206A>T (p.Thr1736Ser) c.5278A>T (p.Thr1760Ser) | |
| 3 | g.38551037T>C | CA352141427 | SCN5A | c.5332A>G (p.Thr1778Ala) c.5335A>G (p.Thr1779Ala) c.5281A>G (p.Thr1761Ala) c.5173A>G (p.Thr1725Ala) c.5236A>G (p.Thr1746Ala) c.5206A>G (p.Thr1736Ala) c.5278A>G (p.Thr1760Ala) | |
| 3 | g.38551037T>G | CA352141429 | SCN5A | c.5332A>C (p.Thr1778Pro) c.5335A>C (p.Thr1779Pro) c.5281A>C (p.Thr1761Pro) c.5173A>C (p.Thr1725Pro) c.5236A>C (p.Thr1746Pro) c.5206A>C (p.Thr1736Pro) c.5278A>C (p.Thr1760Pro) | |
| 3 | g.38551038G>A | CA433331957 | SCN5A | c.5331C>T (p.Ala1777=) c.5334C>T (p.Ala1778=) c.5280C>T (p.Ala1760=) c.5172C>T (p.Ala1724=) c.5235C>T (p.Ala1745=) c.5205C>T (p.Ala1735=) c.5277C>T (p.Ala1759=) | ClinVar |
| 3 | g.38551038G>C | CA433331960 | SCN5A | c.5331C>G (p.Ala1777=) c.5334C>G (p.Ala1778=) c.5280C>G (p.Ala1760=) c.5172C>G (p.Ala1724=) c.5235C>G (p.Ala1745=) c.5205C>G (p.Ala1735=) c.5277C>G (p.Ala1759=) | |
| 3 | g.38551038G>T | CA433331963 | SCN5A | c.5331C>A (p.Ala1777=) c.5334C>A (p.Ala1778=) c.5280C>A (p.Ala1760=) c.5172C>A (p.Ala1724=) c.5235C>A (p.Ala1745=) c.5205C>A (p.Ala1735=) c.5277C>A (p.Ala1759=) | |
| 3 | g.38551039G>A | CA352141432 | SCN5A | c.5330C>T (p.Ala1777Val) c.5333C>T (p.Ala1778Val) c.5279C>T (p.Ala1760Val) c.5171C>T (p.Ala1724Val) c.5234C>T (p.Ala1745Val) c.5204C>T (p.Ala1735Val) c.5276C>T (p.Ala1759Val) | gnomAD v4 |
| 3 | g.38551039G>C | CA352141434 | SCN5A | c.5330C>G (p.Ala1777Gly) c.5333C>G (p.Ala1778Gly) c.5279C>G (p.Ala1760Gly) c.5171C>G (p.Ala1724Gly) c.5234C>G (p.Ala1745Gly) c.5204C>G (p.Ala1735Gly) c.5276C>G (p.Ala1759Gly) | |
| 3 | g.38551039G>T | CA352141436 | SCN5A | c.5330C>A (p.Ala1777Asp) c.5333C>A (p.Ala1778Asp) c.5279C>A (p.Ala1760Asp) c.5171C>A (p.Ala1724Asp) c.5234C>A (p.Ala1745Asp) c.5204C>A (p.Ala1735Asp) c.5276C>A (p.Ala1759Asp) | |
| 3 | g.38551040C>A | CA352141438 | SCN5A | c.5329G>T (p.Ala1777Ser) c.5332G>T (p.Ala1778Ser) c.5278G>T (p.Ala1760Ser) c.5170G>T (p.Ala1724Ser) c.5233G>T (p.Ala1745Ser) c.5203G>T (p.Ala1735Ser) c.5275G>T (p.Ala1759Ser) | |
| 3 | g.38551040C>G | CA352141439 | SCN5A | c.5329G>C (p.Ala1777Pro) c.5332G>C (p.Ala1778Pro) c.5278G>C (p.Ala1760Pro) c.5170G>C (p.Ala1724Pro) c.5233G>C (p.Ala1745Pro) c.5203G>C (p.Ala1735Pro) c.5275G>C (p.Ala1759Pro) | |
| 3 | g.38551040C>T | CA352141441 | SCN5A | c.5329G>A (p.Ala1777Thr) c.5332G>A (p.Ala1778Thr) c.5278G>A (p.Ala1760Thr) c.5170G>A (p.Ala1724Thr) c.5233G>A (p.Ala1745Thr) c.5203G>A (p.Ala1735Thr) c.5275G>A (p.Ala1759Thr) | |
| 3 | g.38551041C>A | CA433331971 | SCN5A | c.5328G>T (p.Val1776=) c.5331G>T (p.Val1777=) c.5277G>T (p.Val1759=) c.5169G>T (p.Val1723=) c.5232G>T (p.Val1744=) c.5202G>T (p.Val1734=) c.5274G>T (p.Val1758=) | |
| 3 | g.38551041C= | CA1358557247 | SCN5A | c.5328G= (p.Val1776=) c.5331G= (p.Val1777=) c.5277G= (p.Val1759=) c.5169G= (p.Val1723=) c.5232G= (p.Val1744=) c.5202G= (p.Val1734=) c.5274G= (p.Val1758=) | |
| 3 | g.38551041C>G | CA433331967 | SCN5A | c.5328G>C (p.Val1776=) c.5331G>C (p.Val1777=) c.5277G>C (p.Val1759=) c.5169G>C (p.Val1723=) c.5232G>C (p.Val1744=) c.5202G>C (p.Val1734=) c.5274G>C (p.Val1758=) | |
| 3 | g.38551041C>T | CA433331969 | SCN5A | c.5328G>A (p.Val1776=) c.5331G>A (p.Val1777=) c.5277G>A (p.Val1759=) c.5169G>A (p.Val1723=) c.5232G>A (p.Val1744=) c.5202G>A (p.Val1734=) c.5274G>A (p.Val1758=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551042A>C | CA352141444 | SCN5A | c.5327T>G (p.Val1776Gly) c.5330T>G (p.Val1777Gly) c.5276T>G (p.Val1759Gly) c.5168T>G (p.Val1723Gly) c.5231T>G (p.Val1744Gly) c.5201T>G (p.Val1734Gly) c.5273T>G (p.Val1758Gly) | |
| 3 | g.38551042A>G | CA352141446 | SCN5A | c.5327T>C (p.Val1776Ala) c.5330T>C (p.Val1777Ala) c.5276T>C (p.Val1759Ala) c.5168T>C (p.Val1723Ala) c.5231T>C (p.Val1744Ala) c.5201T>C (p.Val1734Ala) c.5273T>C (p.Val1758Ala) | |
| 3 | g.38551042A>T | CA352141448 | SCN5A | c.5327T>A (p.Val1776Glu) c.5330T>A (p.Val1777Glu) c.5276T>A (p.Val1759Glu) c.5168T>A (p.Val1723Glu) c.5231T>A (p.Val1744Glu) c.5201T>A (p.Val1734Glu) c.5273T>A (p.Val1758Glu) | |
| 3 | g.38551043C>A | CA352141450 | SCN5A | c.5326G>T (p.Val1776Leu) c.5329G>T (p.Val1777Leu) c.5275G>T (p.Val1759Leu) c.5167G>T (p.Val1723Leu) c.5230G>T (p.Val1744Leu) c.5200G>T (p.Val1734Leu) c.5272G>T (p.Val1758Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38551043C= | CA1358557252 | SCN5A | c.5326G= (p.Val1776=) c.5329G= (p.Val1777=) c.5275G= (p.Val1759=) c.5167G= (p.Val1723=) c.5230G= (p.Val1744=) c.5200G= (p.Val1734=) c.5272G= (p.Val1758=) | |
| 3 | g.38551043C>G | CA352141453 | SCN5A | c.5326G>C (p.Val1776Leu) c.5329G>C (p.Val1777Leu) c.5275G>C (p.Val1759Leu) c.5167G>C (p.Val1723Leu) c.5230G>C (p.Val1744Leu) c.5200G>C (p.Val1734Leu) c.5272G>C (p.Val1758Leu) | |
| 3 | g.38551043C>T | CA019129 | SCN5A | c.5326G>A (p.Val1776Met) c.5329G>A (p.Val1777Met) c.5275G>A (p.Val1759Met) c.5167G>A (p.Val1723Met) c.5230G>A (p.Val1744Met) c.5200G>A (p.Val1734Met) c.5272G>A (p.Val1758Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551044G>A | CA433332059 | SCN5A | c.5325C>T (p.Ser1775=) c.5328C>T (p.Ser1776=) c.5274C>T (p.Ser1758=) c.5166C>T (p.Ser1722=) c.5229C>T (p.Ser1743=) c.5199C>T (p.Ser1733=) c.5271C>T (p.Ser1757=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551044G>C | CA352141456 | SCN5A | c.5325C>G (p.Ser1775Arg) c.5328C>G (p.Ser1776Arg) c.5274C>G (p.Ser1758Arg) c.5166C>G (p.Ser1722Arg) c.5229C>G (p.Ser1743Arg) c.5199C>G (p.Ser1733Arg) c.5271C>G (p.Ser1757Arg) | |
| 3 | g.38551044G= | CA1358557255 | SCN5A | c.5325C= (p.Ser1775=) c.5328C= (p.Ser1776=) c.5274C= (p.Ser1758=) c.5166C= (p.Ser1722=) c.5229C= (p.Ser1743=) c.5199C= (p.Ser1733=) c.5271C= (p.Ser1757=) | |
| 3 | g.38551044G>T | CA352141458 | SCN5A | c.5325C>A (p.Ser1775Arg) c.5328C>A (p.Ser1776Arg) c.5274C>A (p.Ser1758Arg) c.5166C>A (p.Ser1722Arg) c.5229C>A (p.Ser1743Arg) c.5199C>A (p.Ser1733Arg) c.5271C>A (p.Ser1757Arg) | |
| 3 | g.38551045C>A | CA352141460 | SCN5A | c.5324G>T (p.Ser1775Ile) c.5327G>T (p.Ser1776Ile) c.5273G>T (p.Ser1758Ile) c.5165G>T (p.Ser1722Ile) c.5228G>T (p.Ser1743Ile) c.5198G>T (p.Ser1733Ile) c.5270G>T (p.Ser1757Ile) | |
| 3 | g.38551045C>G | CA352141462 | SCN5A | c.5324G>C (p.Ser1775Thr) c.5327G>C (p.Ser1776Thr) c.5273G>C (p.Ser1758Thr) c.5165G>C (p.Ser1722Thr) c.5228G>C (p.Ser1743Thr) c.5198G>C (p.Ser1733Thr) c.5270G>C (p.Ser1757Thr) | gnomAD v4 |
| 3 | g.38551045C>T | CA352141464 | SCN5A | c.5324G>A (p.Ser1775Asn) c.5327G>A (p.Ser1776Asn) c.5273G>A (p.Ser1758Asn) c.5165G>A (p.Ser1722Asn) c.5228G>A (p.Ser1743Asn) c.5198G>A (p.Ser1733Asn) c.5270G>A (p.Ser1757Asn) | gnomAD v4 |
| 3 | g.38551046T>A | CA352141472 | SCN5A | c.5323A>T (p.Ser1775Cys) c.5326A>T (p.Ser1776Cys) c.5272A>T (p.Ser1758Cys) c.5164A>T (p.Ser1722Cys) c.5227A>T (p.Ser1743Cys) c.5197A>T (p.Ser1733Cys) c.5269A>T (p.Ser1757Cys) | |
| 3 | g.38551046T>C | CA352141470 | SCN5A | c.5323A>G (p.Ser1775Gly) c.5326A>G (p.Ser1776Gly) c.5272A>G (p.Ser1758Gly) c.5164A>G (p.Ser1722Gly) c.5227A>G (p.Ser1743Gly) c.5197A>G (p.Ser1733Gly) c.5269A>G (p.Ser1757Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551046T>G | CA352141467 | SCN5A | c.5323A>C (p.Ser1775Arg) c.5326A>C (p.Ser1776Arg) c.5272A>C (p.Ser1758Arg) c.5164A>C (p.Ser1722Arg) c.5227A>C (p.Ser1743Arg) c.5197A>C (p.Ser1733Arg) c.5269A>C (p.Ser1757Arg) | |
| 3 | g.38551046T= | CA1358557257 | SCN5A | c.5323A= (p.Ser1775=) c.5326A= (p.Ser1776=) c.5272A= (p.Ser1758=) c.5164A= (p.Ser1722=) c.5227A= (p.Ser1743=) c.5197A= (p.Ser1733=) c.5269A= (p.Ser1757=) |