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.38551030_38551031del | CA2580614200 | SCN5A | c.5341_5342del (p.Ser1781HisfsTer6) c.5344_5345del (p.Ser1782HisfsTer6) c.5290_5291del (p.Ser1764HisfsTer6) c.5182_5183del (p.Ser1728HisfsTer6) c.5245_5246del (p.Ser1749HisfsTer6) c.5215_5216del (p.Ser1739HisfsTer6) c.5287_5288del (p.Ser1763HisfsTer6) | ClinVar gnomAD v4 |
| 3 | g.38551029C>A | CA352141385 | SCN5A | c.5340G>T (p.Glu1780Asp) c.5343G>T (p.Glu1781Asp) c.5289G>T (p.Glu1763Asp) c.5181G>T (p.Glu1727Asp) c.5244G>T (p.Glu1748Asp) c.5214G>T (p.Glu1738Asp) c.5286G>T (p.Glu1762Asp) | |
| 3 | g.38551029C= | CA1358557219 | SCN5A | c.5340G= (p.Glu1780=) c.5343G= (p.Glu1781=) c.5289G= (p.Glu1763=) c.5181G= (p.Glu1727=) c.5244G= (p.Glu1748=) c.5214G= (p.Glu1738=) c.5286G= (p.Glu1762=) | |
| 3 | g.38551029C>G | CA352141387 | SCN5A | c.5340G>C (p.Glu1780Asp) c.5343G>C (p.Glu1781Asp) c.5289G>C (p.Glu1763Asp) c.5181G>C (p.Glu1727Asp) c.5244G>C (p.Glu1748Asp) c.5214G>C (p.Glu1738Asp) c.5286G>C (p.Glu1762Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551029C>T | CA064339 | SCN5A | c.5340G>A (p.Glu1780=) c.5343G>A (p.Glu1781=) c.5289G>A (p.Glu1763=) c.5181G>A (p.Glu1727=) c.5244G>A (p.Glu1748=) c.5214G>A (p.Glu1738=) c.5286G>A (p.Glu1762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>A | CA352141390 | SCN5A | c.5339A>T (p.Glu1780Val) c.5342A>T (p.Glu1781Val) c.5288A>T (p.Glu1763Val) c.5180A>T (p.Glu1727Val) c.5243A>T (p.Glu1748Val) c.5213A>T (p.Glu1738Val) c.5285A>T (p.Glu1762Val) | |
| 3 | g.38551030T>C | CA352141392 | SCN5A | c.5339A>G (p.Glu1780Gly) c.5342A>G (p.Glu1781Gly) c.5288A>G (p.Glu1763Gly) c.5180A>G (p.Glu1727Gly) c.5243A>G (p.Glu1748Gly) c.5213A>G (p.Glu1738Gly) c.5285A>G (p.Glu1762Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>G | CA352141394 | SCN5A | c.5339A>C (p.Glu1780Ala) c.5342A>C (p.Glu1781Ala) c.5288A>C (p.Glu1763Ala) c.5180A>C (p.Glu1727Ala) c.5243A>C (p.Glu1748Ala) c.5213A>C (p.Glu1738Ala) c.5285A>C (p.Glu1762Ala) | |
| 3 | g.38551030T= | CA1358557227 | SCN5A | c.5339A= (p.Glu1780=) c.5342A= (p.Glu1781=) c.5288A= (p.Glu1763=) c.5180A= (p.Glu1727=) c.5243A= (p.Glu1748=) c.5213A= (p.Glu1738=) c.5285A= (p.Glu1762=) | |
| 3 | g.38551031C>A | CA352141398 | SCN5A | c.5338G>T (p.Glu1780Ter) c.5341G>T (p.Glu1781Ter) c.5287G>T (p.Glu1763Ter) c.5179G>T (p.Glu1727Ter) c.5242G>T (p.Glu1748Ter) c.5212G>T (p.Glu1738Ter) c.5284G>T (p.Glu1762Ter) | dbSNP |
| 3 | g.38551031C= | CA1358557229 | SCN5A | c.5338G= (p.Glu1780=) c.5341G= (p.Glu1781=) c.5287G= (p.Glu1763=) c.5179G= (p.Glu1727=) c.5242G= (p.Glu1748=) c.5212G= (p.Glu1738=) c.5284G= (p.Glu1762=) | |
| 3 | g.38551031C>G | CA352141400 | SCN5A | c.5338G>C (p.Glu1780Gln) c.5341G>C (p.Glu1781Gln) c.5287G>C (p.Glu1763Gln) c.5179G>C (p.Glu1727Gln) c.5242G>C (p.Glu1748Gln) c.5212G>C (p.Glu1738Gln) c.5284G>C (p.Glu1762Gln) | |
| 3 | g.38551031C>T | CA352141401 | SCN5A | c.5338G>A (p.Glu1780Lys) c.5341G>A (p.Glu1781Lys) c.5287G>A (p.Glu1763Lys) c.5179G>A (p.Glu1727Lys) c.5242G>A (p.Glu1748Lys) c.5212G>A (p.Glu1738Lys) c.5284G>A (p.Glu1762Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551032C>A | CA352141404 | SCN5A | c.5337G>T (p.Glu1779Asp) c.5340G>T (p.Glu1780Asp) c.5286G>T (p.Glu1762Asp) c.5178G>T (p.Glu1726Asp) c.5241G>T (p.Glu1747Asp) c.5211G>T (p.Glu1737Asp) c.5283G>T (p.Glu1761Asp) | |
| 3 | g.38551032C>G | CA352141403 | SCN5A | c.5337G>C (p.Glu1779Asp) c.5340G>C (p.Glu1780Asp) c.5286G>C (p.Glu1762Asp) c.5178G>C (p.Glu1726Asp) c.5241G>C (p.Glu1747Asp) c.5211G>C (p.Glu1737Asp) c.5283G>C (p.Glu1761Asp) | |
| 3 | g.38551032C>T | CA433331944 | SCN5A | c.5337G>A (p.Glu1779=) c.5340G>A (p.Glu1780=) c.5286G>A (p.Glu1762=) c.5178G>A (p.Glu1726=) c.5241G>A (p.Glu1747=) c.5211G>A (p.Glu1737=) c.5283G>A (p.Glu1761=) | COSMIC COSMIC COSMIC |
| 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) |