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.38550877_38550878delinsTG | CA1358556786 | SCN5A | c.5491_5492delinsCA (p.Gln1831=) c.5494_5495delinsCA (p.Gln1832=) c.5440_5441delinsCA (p.Gln1814=) c.5332_5333delinsCA (p.Gln1778=) c.5395_5396delinsCA (p.Gln1799=) c.5365_5366delinsCA (p.Gln1789=) c.5437_5438delinsCA (p.Gln1813=) | |
| 3 | g.38550878G>A | CA352140995 | SCN5A | c.5491C>T (p.Gln1831Ter) c.5494C>T (p.Gln1832Ter) c.5440C>T (p.Gln1814Ter) c.5332C>T (p.Gln1778Ter) c.5395C>T (p.Gln1799Ter) c.5365C>T (p.Gln1789Ter) c.5437C>T (p.Gln1813Ter) | |
| 3 | g.38550878G>C | CA019294 | SCN5A | c.5491C>G (p.Gln1831Glu) c.5494C>G (p.Gln1832Glu) c.5440C>G (p.Gln1814Glu) c.5332C>G (p.Gln1778Glu) c.5395C>G (p.Gln1799Glu) c.5365C>G (p.Gln1789Glu) c.5437C>G (p.Gln1813Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550878G= | CA1358556789 | SCN5A | c.5491C= (p.Gln1831=) c.5494C= (p.Gln1832=) c.5440C= (p.Gln1814=) c.5332C= (p.Gln1778=) c.5395C= (p.Gln1799=) c.5365C= (p.Gln1789=) c.5437C= (p.Gln1813=) | |
| 3 | g.38550878G>T | CA352140996 | SCN5A | c.5491C>A (p.Gln1831Lys) c.5494C>A (p.Gln1832Lys) c.5440C>A (p.Gln1814Lys) c.5332C>A (p.Gln1778Lys) c.5395C>A (p.Gln1799Lys) c.5365C>A (p.Gln1789Lys) c.5437C>A (p.Gln1813Lys) | ClinVar dbSNP |
| 3 | g.38550879del | CA916079915 | SCN5A | c.5491del (p.Gln1831ArgfsTer2) c.5494del (p.Gln1832ArgfsTer2) c.5440del (p.Gln1814ArgfsTer2) c.5332del (p.Gln1778ArgfsTer2) c.5395del (p.Gln1799ArgfsTer2) c.5365del (p.Gln1789ArgfsTer2) c.5437del (p.Gln1813ArgfsTer2) | ClinVar dbSNP |
| 3 | g.38550879G>A | CA433332173 | SCN5A | c.5490C>T (p.Asn1830=) c.5493C>T (p.Asn1831=) c.5439C>T (p.Asn1813=) c.5331C>T (p.Asn1777=) c.5394C>T (p.Asn1798=) c.5364C>T (p.Asn1788=) c.5436C>T (p.Asn1812=) | dbSNP gnomAD v2 |
| 3 | g.38550879G>C | CA352140997 | SCN5A | c.5490C>G (p.Asn1830Lys) c.5493C>G (p.Asn1831Lys) c.5439C>G (p.Asn1813Lys) c.5331C>G (p.Asn1777Lys) c.5394C>G (p.Asn1798Lys) c.5364C>G (p.Asn1788Lys) c.5436C>G (p.Asn1812Lys) | |
| 3 | g.38550879G= | CA1358556796 | SCN5A | c.5490C= (p.Asn1830=) c.5493C= (p.Asn1831=) c.5439C= (p.Asn1813=) c.5331C= (p.Asn1777=) c.5394C= (p.Asn1798=) c.5364C= (p.Asn1788=) c.5436C= (p.Asn1812=) | |
| 3 | g.38550879G>T | CA352140998 | SCN5A | c.5490C>A (p.Asn1830Lys) c.5493C>A (p.Asn1831Lys) c.5439C>A (p.Asn1813Lys) c.5331C>A (p.Asn1777Lys) c.5394C>A (p.Asn1798Lys) c.5364C>A (p.Asn1788Lys) c.5436C>A (p.Asn1812Lys) | |
| 3 | g.38550880T>A | CA352140999 | SCN5A | c.5489A>T (p.Asn1830Ile) c.5492A>T (p.Asn1831Ile) c.5438A>T (p.Asn1813Ile) c.5330A>T (p.Asn1777Ile) c.5393A>T (p.Asn1798Ile) c.5363A>T (p.Asn1788Ile) c.5435A>T (p.Asn1812Ile) | |
| 3 | g.38550880T>C | CA72937894 | SCN5A | c.5489A>G (p.Asn1830Ser) c.5492A>G (p.Asn1831Ser) c.5438A>G (p.Asn1813Ser) c.5330A>G (p.Asn1777Ser) c.5393A>G (p.Asn1798Ser) c.5363A>G (p.Asn1788Ser) c.5435A>G (p.Asn1812Ser) | dbSNP gnomAD v4 |
| 3 | g.38550880T>G | CA352141000 | SCN5A | c.5489A>C (p.Asn1830Thr) c.5492A>C (p.Asn1831Thr) c.5438A>C (p.Asn1813Thr) c.5330A>C (p.Asn1777Thr) c.5393A>C (p.Asn1798Thr) c.5363A>C (p.Asn1788Thr) c.5435A>C (p.Asn1812Thr) | |
| 3 | g.38550880T= | CA1358556800 | SCN5A | c.5489A= (p.Asn1830=) c.5492A= (p.Asn1831=) c.5438A= (p.Asn1813=) c.5330A= (p.Asn1777=) c.5393A= (p.Asn1798=) c.5363A= (p.Asn1788=) c.5435A= (p.Asn1812=) | |
| 3 | g.38550881T>A | CA352141001 | SCN5A | c.5488A>T (p.Asn1830Tyr) c.5491A>T (p.Asn1831Tyr) c.5437A>T (p.Asn1813Tyr) c.5329A>T (p.Asn1777Tyr) c.5392A>T (p.Asn1798Tyr) c.5362A>T (p.Asn1788Tyr) c.5434A>T (p.Asn1812Tyr) | |
| 3 | g.38550881T>C | CA352141002 | SCN5A | c.5488A>G (p.Asn1830Asp) c.5491A>G (p.Asn1831Asp) c.5437A>G (p.Asn1813Asp) c.5329A>G (p.Asn1777Asp) c.5392A>G (p.Asn1798Asp) c.5362A>G (p.Asn1788Asp) c.5434A>G (p.Asn1812Asp) | gnomAD v4 |
| 3 | g.38550881T>G | CA352141003 | SCN5A | c.5488A>C (p.Asn1830His) c.5491A>C (p.Asn1831His) c.5437A>C (p.Asn1813His) c.5329A>C (p.Asn1777His) c.5392A>C (p.Asn1798His) c.5362A>C (p.Asn1788His) c.5434A>C (p.Asn1812His) | ClinVar dbSNP |
| 3 | g.38550882G>A | CA433332182 | SCN5A | c.5487C>T (p.Pro1829=) c.5490C>T (p.Pro1830=) c.5436C>T (p.Pro1812=) c.5328C>T (p.Pro1776=) c.5391C>T (p.Pro1797=) c.5361C>T (p.Pro1787=) c.5433C>T (p.Pro1811=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550882G>C | CA433332183 | SCN5A | c.5487C>G (p.Pro1829=) c.5490C>G (p.Pro1830=) c.5436C>G (p.Pro1812=) c.5328C>G (p.Pro1776=) c.5391C>G (p.Pro1797=) c.5361C>G (p.Pro1787=) c.5433C>G (p.Pro1811=) | |
| 3 | g.38550882G= | CA1358556804 | SCN5A | c.5487C= (p.Pro1829=) c.5490C= (p.Pro1830=) c.5436C= (p.Pro1812=) c.5328C= (p.Pro1776=) c.5391C= (p.Pro1797=) c.5361C= (p.Pro1787=) c.5433C= (p.Pro1811=) | |
| 3 | g.38550882G>T | CA433332184 | SCN5A | c.5487C>A (p.Pro1829=) c.5490C>A (p.Pro1830=) c.5436C>A (p.Pro1812=) c.5328C>A (p.Pro1776=) c.5391C>A (p.Pro1797=) c.5361C>A (p.Pro1787=) c.5433C>A (p.Pro1811=) | |
| 3 | g.38550883G>A | CA352141006 | SCN5A | c.5486C>T (p.Pro1829Leu) c.5489C>T (p.Pro1830Leu) c.5435C>T (p.Pro1812Leu) c.5327C>T (p.Pro1776Leu) c.5390C>T (p.Pro1797Leu) c.5360C>T (p.Pro1787Leu) c.5432C>T (p.Pro1811Leu) | |
| 3 | g.38550883G>C | CA352141004 | SCN5A | c.5486C>G (p.Pro1829Arg) c.5489C>G (p.Pro1830Arg) c.5435C>G (p.Pro1812Arg) c.5327C>G (p.Pro1776Arg) c.5390C>G (p.Pro1797Arg) c.5360C>G (p.Pro1787Arg) c.5432C>G (p.Pro1811Arg) | gnomAD v4 |
| 3 | g.38550883G>T | CA352141005 | SCN5A | c.5486C>A (p.Pro1829His) c.5489C>A (p.Pro1830His) c.5435C>A (p.Pro1812His) c.5327C>A (p.Pro1776His) c.5390C>A (p.Pro1797His) c.5360C>A (p.Pro1787His) c.5432C>A (p.Pro1811His) | |
| 3 | g.38550884G>A | CA352141007 | SCN5A | c.5485C>T (p.Pro1829Ser) c.5488C>T (p.Pro1830Ser) c.5434C>T (p.Pro1812Ser) c.5326C>T (p.Pro1776Ser) c.5389C>T (p.Pro1797Ser) c.5359C>T (p.Pro1787Ser) c.5431C>T (p.Pro1811Ser) | |
| 3 | g.38550884G>C | CA352141008 | SCN5A | c.5485C>G (p.Pro1829Ala) c.5488C>G (p.Pro1830Ala) c.5434C>G (p.Pro1812Ala) c.5326C>G (p.Pro1776Ala) c.5389C>G (p.Pro1797Ala) c.5359C>G (p.Pro1787Ala) c.5431C>G (p.Pro1811Ala) | |
| 3 | g.38550884G= | CA1358556807 | SCN5A | c.5485C= (p.Pro1829=) c.5488C= (p.Pro1830=) c.5434C= (p.Pro1812=) c.5326C= (p.Pro1776=) c.5389C= (p.Pro1797=) c.5359C= (p.Pro1787=) c.5431C= (p.Pro1811=) | |
| 3 | g.38550884G>T | CA352141009 | SCN5A | c.5485C>A (p.Pro1829Thr) c.5488C>A (p.Pro1830Thr) c.5434C>A (p.Pro1812Thr) c.5326C>A (p.Pro1776Thr) c.5389C>A (p.Pro1797Thr) c.5359C>A (p.Pro1787Thr) c.5431C>A (p.Pro1811Thr) | ClinVar dbSNP |
| 3 | g.38550885C>A | CA352141010 | SCN5A | c.5484G>T (p.Lys1828Asn) c.5487G>T (p.Lys1829Asn) c.5433G>T (p.Lys1811Asn) c.5325G>T (p.Lys1775Asn) c.5388G>T (p.Lys1796Asn) c.5358G>T (p.Lys1786Asn) c.5430G>T (p.Lys1810Asn) | |
| 3 | g.38550885C>G | CA352141011 | SCN5A | c.5484G>C (p.Lys1828Asn) c.5487G>C (p.Lys1829Asn) c.5433G>C (p.Lys1811Asn) c.5325G>C (p.Lys1775Asn) c.5388G>C (p.Lys1796Asn) c.5358G>C (p.Lys1786Asn) c.5430G>C (p.Lys1810Asn) | |
| 3 | g.38550885C>T | CA433332188 | SCN5A | c.5484G>A (p.Lys1828=) c.5487G>A (p.Lys1829=) c.5433G>A (p.Lys1811=) c.5325G>A (p.Lys1775=) c.5388G>A (p.Lys1796=) c.5358G>A (p.Lys1786=) c.5430G>A (p.Lys1810=) | |
| 3 | g.38550886T>A | CA352141012 | SCN5A | c.5483A>T (p.Lys1828Met) c.5486A>T (p.Lys1829Met) c.5432A>T (p.Lys1811Met) c.5324A>T (p.Lys1775Met) c.5387A>T (p.Lys1796Met) c.5357A>T (p.Lys1786Met) c.5429A>T (p.Lys1810Met) | |
| 3 | g.38550886T>C | CA352141013 | SCN5A | c.5483A>G (p.Lys1828Arg) c.5486A>G (p.Lys1829Arg) c.5432A>G (p.Lys1811Arg) c.5324A>G (p.Lys1775Arg) c.5387A>G (p.Lys1796Arg) c.5357A>G (p.Lys1786Arg) c.5429A>G (p.Lys1810Arg) | |
| 3 | g.38550886T>G | CA352141014 | SCN5A | c.5483A>C (p.Lys1828Thr) c.5486A>C (p.Lys1829Thr) c.5432A>C (p.Lys1811Thr) c.5324A>C (p.Lys1775Thr) c.5387A>C (p.Lys1796Thr) c.5357A>C (p.Lys1786Thr) c.5429A>C (p.Lys1810Thr) | |
| 3 | g.38550887T>A | CA352141015 | SCN5A | c.5482A>T (p.Lys1828Ter) c.5485A>T (p.Lys1829Ter) c.5431A>T (p.Lys1811Ter) c.5323A>T (p.Lys1775Ter) c.5386A>T (p.Lys1796Ter) c.5356A>T (p.Lys1786Ter) c.5428A>T (p.Lys1810Ter) | dbSNP |
| 3 | g.38550887T>C | CA352141016 | SCN5A | c.5482A>G (p.Lys1828Glu) c.5485A>G (p.Lys1829Glu) c.5431A>G (p.Lys1811Glu) c.5323A>G (p.Lys1775Glu) c.5386A>G (p.Lys1796Glu) c.5356A>G (p.Lys1786Glu) c.5428A>G (p.Lys1810Glu) | |
| 3 | g.38550887T>G | CA352141017 | SCN5A | c.5482A>C (p.Lys1828Gln) c.5485A>C (p.Lys1829Gln) c.5431A>C (p.Lys1811Gln) c.5323A>C (p.Lys1775Gln) c.5386A>C (p.Lys1796Gln) c.5356A>C (p.Lys1786Gln) c.5428A>C (p.Lys1810Gln) | |
| 3 | g.38550887T= | CA1358556810 | SCN5A | c.5482A= (p.Lys1828=) c.5485A= (p.Lys1829=) c.5431A= (p.Lys1811=) c.5323A= (p.Lys1775=) c.5386A= (p.Lys1796=) c.5356A= (p.Lys1786=) c.5428A= (p.Lys1810=) | |
| 3 | g.38550888G>A | CA433332196 | SCN5A | c.5481C>T (p.Ala1827=) c.5484C>T (p.Ala1828=) c.5430C>T (p.Ala1810=) c.5322C>T (p.Ala1774=) c.5385C>T (p.Ala1795=) c.5355C>T (p.Ala1785=) c.5427C>T (p.Ala1809=) | dbSNP gnomAD v2 |
| 3 | g.38550888G>C | CA433332192 | SCN5A | c.5481C>G (p.Ala1827=) c.5484C>G (p.Ala1828=) c.5430C>G (p.Ala1810=) c.5322C>G (p.Ala1774=) c.5385C>G (p.Ala1795=) c.5355C>G (p.Ala1785=) c.5427C>G (p.Ala1809=) | |
| 3 | g.38550888G= | CA1358556812 | SCN5A | c.5481C= (p.Ala1827=) c.5484C= (p.Ala1828=) c.5430C= (p.Ala1810=) c.5322C= (p.Ala1774=) c.5385C= (p.Ala1795=) c.5355C= (p.Ala1785=) c.5427C= (p.Ala1809=) | |
| 3 | g.38550888G>T | CA433332189 | SCN5A | c.5481C>A (p.Ala1827=) c.5484C>A (p.Ala1828=) c.5430C>A (p.Ala1810=) c.5322C>A (p.Ala1774=) c.5385C>A (p.Ala1795=) c.5355C>A (p.Ala1785=) c.5427C>A (p.Ala1809=) | |
| 3 | g.38550889G>A | CA352141019 | SCN5A | c.5480C>T (p.Ala1827Val) c.5483C>T (p.Ala1828Val) c.5429C>T (p.Ala1810Val) c.5321C>T (p.Ala1774Val) c.5384C>T (p.Ala1795Val) c.5354C>T (p.Ala1785Val) c.5426C>T (p.Ala1809Val) | |
| 3 | g.38550889G>C | CA352141020 | SCN5A | c.5480C>G (p.Ala1827Gly) c.5483C>G (p.Ala1828Gly) c.5429C>G (p.Ala1810Gly) c.5321C>G (p.Ala1774Gly) c.5384C>G (p.Ala1795Gly) c.5354C>G (p.Ala1785Gly) c.5426C>G (p.Ala1809Gly) | |
| 3 | g.38550889G>T | CA352141018 | SCN5A | c.5480C>A (p.Ala1827Asp) c.5483C>A (p.Ala1828Asp) c.5429C>A (p.Ala1810Asp) c.5321C>A (p.Ala1774Asp) c.5384C>A (p.Ala1795Asp) c.5354C>A (p.Ala1785Asp) c.5426C>A (p.Ala1809Asp) | |
| 3 | g.38550890C>A | CA352141021 | SCN5A | c.5479G>T (p.Ala1827Ser) c.5482G>T (p.Ala1828Ser) c.5428G>T (p.Ala1810Ser) c.5320G>T (p.Ala1774Ser) c.5383G>T (p.Ala1795Ser) c.5353G>T (p.Ala1785Ser) c.5425G>T (p.Ala1809Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550890C= | CA1358556818 | SCN5A | c.5479G= (p.Ala1827=) c.5482G= (p.Ala1828=) c.5428G= (p.Ala1810=) c.5320G= (p.Ala1774=) c.5383G= (p.Ala1795=) c.5353G= (p.Ala1785=) c.5425G= (p.Ala1809=) | |
| 3 | g.38550890C>G | CA352141022 | SCN5A | c.5479G>C (p.Ala1827Pro) c.5482G>C (p.Ala1828Pro) c.5428G>C (p.Ala1810Pro) c.5320G>C (p.Ala1774Pro) c.5383G>C (p.Ala1795Pro) c.5353G>C (p.Ala1785Pro) c.5425G>C (p.Ala1809Pro) | |
| 3 | g.38550890C>T | CA019290 | SCN5A | c.5479G>A (p.Ala1827Thr) c.5482G>A (p.Ala1828Thr) c.5428G>A (p.Ala1810Thr) c.5320G>A (p.Ala1774Thr) c.5383G>A (p.Ala1795Thr) c.5353G>A (p.Ala1785Thr) c.5425G>A (p.Ala1809Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550891G>A | CA019284 | SCN5A | c.5478C>T (p.Ile1826=) c.5481C>T (p.Ile1827=) c.5427C>T (p.Ile1809=) c.5319C>T (p.Ile1773=) c.5382C>T (p.Ile1794=) c.5352C>T (p.Ile1784=) c.5424C>T (p.Ile1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |