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.38550947_38550950del | CA1358556969 | SCN5A | c.5421_5424del (p.Phe1807LeufsTer25) c.5424_5427del (p.Phe1808LeufsTer25) c.5370_5373del (p.Phe1790LeufsTer25) c.5262_5265del (p.Phe1754LeufsTer25) c.5325_5328del (p.Phe1775LeufsTer25) c.5295_5298del (p.Phe1765LeufsTer25) c.5367_5370del (p.Phe1789LeufsTer25) | dbSNP |
| 3 | g.38550949A>C | CA352141141 | SCN5A | c.5420T>G (p.Phe1807Cys) c.5423T>G (p.Phe1808Cys) c.5369T>G (p.Phe1790Cys) c.5261T>G (p.Phe1754Cys) c.5324T>G (p.Phe1775Cys) c.5294T>G (p.Phe1765Cys) c.5366T>G (p.Phe1789Cys) | gnomAD v4 |
| 3 | g.38550949A>G | CA352141142 | SCN5A | c.5420T>C (p.Phe1807Ser) c.5423T>C (p.Phe1808Ser) c.5369T>C (p.Phe1790Ser) c.5261T>C (p.Phe1754Ser) c.5324T>C (p.Phe1775Ser) c.5294T>C (p.Phe1765Ser) c.5366T>C (p.Phe1789Ser) | |
| 3 | g.38550949A>T | CA352141140 | SCN5A | c.5420T>A (p.Phe1807Tyr) c.5423T>A (p.Phe1808Tyr) c.5369T>A (p.Phe1790Tyr) c.5261T>A (p.Phe1754Tyr) c.5324T>A (p.Phe1775Tyr) c.5294T>A (p.Phe1765Tyr) c.5366T>A (p.Phe1789Tyr) | |
| 3 | g.38550950A>C | CA352141143 | SCN5A | c.5419T>G (p.Phe1807Val) c.5422T>G (p.Phe1808Val) c.5368T>G (p.Phe1790Val) c.5260T>G (p.Phe1754Val) c.5323T>G (p.Phe1775Val) c.5293T>G (p.Phe1765Val) c.5365T>G (p.Phe1789Val) | |
| 3 | g.38550950A>G | CA352141144 | SCN5A | c.5419T>C (p.Phe1807Leu) c.5422T>C (p.Phe1808Leu) c.5368T>C (p.Phe1790Leu) c.5260T>C (p.Phe1754Leu) c.5323T>C (p.Phe1775Leu) c.5293T>C (p.Phe1765Leu) c.5365T>C (p.Phe1789Leu) | |
| 3 | g.38550950A>T | CA352141145 | SCN5A | c.5419T>A (p.Phe1807Ile) c.5422T>A (p.Phe1808Ile) c.5368T>A (p.Phe1790Ile) c.5260T>A (p.Phe1754Ile) c.5323T>A (p.Phe1775Ile) c.5293T>A (p.Phe1765Ile) c.5365T>A (p.Phe1789Ile) | |
| 3 | g.38550951C>A | CA352141146 | SCN5A | c.5418G>T (p.Gln1806His) c.5421G>T (p.Gln1807His) c.5367G>T (p.Gln1789His) c.5259G>T (p.Gln1753His) c.5322G>T (p.Gln1774His) c.5292G>T (p.Gln1764His) c.5364G>T (p.Gln1788His) | |
| 3 | g.38550951C>G | CA352141147 | SCN5A | c.5418G>C (p.Gln1806His) c.5421G>C (p.Gln1807His) c.5367G>C (p.Gln1789His) c.5259G>C (p.Gln1753His) c.5322G>C (p.Gln1774His) c.5292G>C (p.Gln1764His) c.5364G>C (p.Gln1788His) | |
| 3 | g.38550951C>T | CA433331676 | SCN5A | c.5418G>A (p.Gln1806=) c.5421G>A (p.Gln1807=) c.5367G>A (p.Gln1789=) c.5259G>A (p.Gln1753=) c.5322G>A (p.Gln1774=) c.5292G>A (p.Gln1764=) c.5364G>A (p.Gln1788=) | |
| 3 | g.38550951_38550955delinsCTGAG | CA1358556987 | SCN5A | c.5414_5418delinsCTCAG (p.Thr1805=) c.5417_5421delinsCTCAG (p.Thr1806=) c.5363_5367delinsCTCAG (p.Thr1788=) c.5255_5259delinsCTCAG (p.Thr1752=) c.5318_5322delinsCTCAG (p.Thr1773=) c.5288_5292delinsCTCAG (p.Thr1763=) c.5360_5364delinsCTCAG (p.Thr1787=) | |
| 3 | g.38550952T>A | CA352141150 | SCN5A | c.5417A>T (p.Gln1806Leu) c.5420A>T (p.Gln1807Leu) c.5366A>T (p.Gln1789Leu) c.5258A>T (p.Gln1753Leu) c.5321A>T (p.Gln1774Leu) c.5291A>T (p.Gln1764Leu) c.5363A>T (p.Gln1788Leu) | |
| 3 | g.38550952T>C | CA352141149 | SCN5A | c.5417A>G (p.Gln1806Arg) c.5420A>G (p.Gln1807Arg) c.5366A>G (p.Gln1789Arg) c.5258A>G (p.Gln1753Arg) c.5321A>G (p.Gln1774Arg) c.5291A>G (p.Gln1764Arg) c.5363A>G (p.Gln1788Arg) | |
| 3 | g.38550952T>G | CA352141148 | SCN5A | c.5417A>C (p.Gln1806Pro) c.5420A>C (p.Gln1807Pro) c.5366A>C (p.Gln1789Pro) c.5258A>C (p.Gln1753Pro) c.5321A>C (p.Gln1774Pro) c.5291A>C (p.Gln1764Pro) c.5363A>C (p.Gln1788Pro) | |
| 3 | g.38550952dup | CA2739279198 | SCN5A | c.5417dup (p.Phe1807ValfsTer3) c.5420dup (p.Phe1808ValfsTer3) c.5366dup (p.Phe1790ValfsTer3) c.5258dup (p.Phe1754ValfsTer3) c.5321dup (p.Phe1775ValfsTer3) c.5291dup (p.Phe1765ValfsTer3) c.5363dup (p.Phe1789ValfsTer3) | ClinVar |
| 3 | g.38550954_38550957del | CA16611455 | SCN5A | c.5414_5417del (p.Thr1805SerfsTer27) c.5417_5420del (p.Thr1806SerfsTer27) c.5363_5366del (p.Thr1788SerfsTer27) c.5255_5258del (p.Thr1752SerfsTer27) c.5318_5321del (p.Thr1773SerfsTer27) c.5288_5291del (p.Thr1763SerfsTer27) c.5360_5363del (p.Thr1787SerfsTer27) | ClinVar dbSNP |
| 3 | g.38550953G>A | CA352141151 | SCN5A | c.5416C>T (p.Gln1806Ter) c.5419C>T (p.Gln1807Ter) c.5365C>T (p.Gln1789Ter) c.5257C>T (p.Gln1753Ter) c.5320C>T (p.Gln1774Ter) c.5290C>T (p.Gln1764Ter) c.5362C>T (p.Gln1788Ter) | dbSNP |
| 3 | g.38550953G>C | CA352141152 | SCN5A | c.5416C>G (p.Gln1806Glu) c.5419C>G (p.Gln1807Glu) c.5365C>G (p.Gln1789Glu) c.5257C>G (p.Gln1753Glu) c.5320C>G (p.Gln1774Glu) c.5290C>G (p.Gln1764Glu) c.5362C>G (p.Gln1788Glu) | |
| 3 | g.38550953G= | CA1358556995 | SCN5A | c.5416C= (p.Gln1806=) c.5419C= (p.Gln1807=) c.5365C= (p.Gln1789=) c.5257C= (p.Gln1753=) c.5320C= (p.Gln1774=) c.5290C= (p.Gln1764=) c.5362C= (p.Gln1788=) | |
| 3 | g.38550953G>T | CA352141153 | SCN5A | c.5416C>A (p.Gln1806Lys) c.5419C>A (p.Gln1807Lys) c.5365C>A (p.Gln1789Lys) c.5257C>A (p.Gln1753Lys) c.5320C>A (p.Gln1774Lys) c.5290C>A (p.Gln1764Lys) c.5362C>A (p.Gln1788Lys) | |
| 3 | g.38550954A= | CA1358556997 | SCN5A | c.5415T= (p.Thr1805=) c.5418T= (p.Thr1806=) c.5364T= (p.Thr1788=) c.5256T= (p.Thr1752=) c.5319T= (p.Thr1773=) c.5289T= (p.Thr1763=) c.5361T= (p.Thr1787=) | |
| 3 | g.38550954A>C | CA433331678 | SCN5A | c.5415T>G (p.Thr1805=) c.5418T>G (p.Thr1806=) c.5364T>G (p.Thr1788=) c.5256T>G (p.Thr1752=) c.5319T>G (p.Thr1773=) c.5289T>G (p.Thr1763=) c.5361T>G (p.Thr1787=) | |
| 3 | g.38550954A>G | CA433331679 | SCN5A | c.5415T>C (p.Thr1805=) c.5418T>C (p.Thr1806=) c.5364T>C (p.Thr1788=) c.5256T>C (p.Thr1752=) c.5319T>C (p.Thr1773=) c.5289T>C (p.Thr1763=) c.5361T>C (p.Thr1787=) | |
| 3 | g.38550954A>T | CA064386 | SCN5A | c.5415T>A (p.Thr1805=) c.5418T>A (p.Thr1806=) c.5364T>A (p.Thr1788=) c.5256T>A (p.Thr1752=) c.5319T>A (p.Thr1773=) c.5289T>A (p.Thr1763=) c.5361T>A (p.Thr1787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550955G>A | CA352141154 | SCN5A | c.5414C>T (p.Thr1805Ile) c.5417C>T (p.Thr1806Ile) c.5363C>T (p.Thr1788Ile) c.5255C>T (p.Thr1752Ile) c.5318C>T (p.Thr1773Ile) c.5288C>T (p.Thr1763Ile) c.5360C>T (p.Thr1787Ile) | ClinVar dbSNP |
| 3 | g.38550955G>C | CA352141155 | SCN5A | c.5414C>G (p.Thr1805Ser) c.5417C>G (p.Thr1806Ser) c.5363C>G (p.Thr1788Ser) c.5255C>G (p.Thr1752Ser) c.5318C>G (p.Thr1773Ser) c.5288C>G (p.Thr1763Ser) c.5360C>G (p.Thr1787Ser) | |
| 3 | g.38550955G= | CA1358557002 | SCN5A | c.5414C= (p.Thr1805=) c.5417C= (p.Thr1806=) c.5363C= (p.Thr1788=) c.5255C= (p.Thr1752=) c.5318C= (p.Thr1773=) c.5288C= (p.Thr1763=) c.5360C= (p.Thr1787=) | |
| 3 | g.38550955G>T | CA352141156 | SCN5A | c.5414C>A (p.Thr1805Asn) c.5417C>A (p.Thr1806Asn) c.5363C>A (p.Thr1788Asn) c.5255C>A (p.Thr1752Asn) c.5318C>A (p.Thr1773Asn) c.5288C>A (p.Thr1763Asn) c.5360C>A (p.Thr1787Asn) | |
| 3 | g.38550956T>A | CA352141158 | SCN5A | c.5413A>T (p.Thr1805Ser) c.5416A>T (p.Thr1806Ser) c.5362A>T (p.Thr1788Ser) c.5254A>T (p.Thr1752Ser) c.5317A>T (p.Thr1773Ser) c.5287A>T (p.Thr1763Ser) c.5359A>T (p.Thr1787Ser) | dbSNP |
| 3 | g.38550956T>C | CA352141159 | SCN5A | c.5413A>G (p.Thr1805Ala) c.5416A>G (p.Thr1806Ala) c.5362A>G (p.Thr1788Ala) c.5254A>G (p.Thr1752Ala) c.5317A>G (p.Thr1773Ala) c.5287A>G (p.Thr1763Ala) c.5359A>G (p.Thr1787Ala) | |
| 3 | g.38550956T>G | CA352141157 | SCN5A | c.5413A>C (p.Thr1805Pro) c.5416A>C (p.Thr1806Pro) c.5362A>C (p.Thr1788Pro) c.5254A>C (p.Thr1752Pro) c.5317A>C (p.Thr1773Pro) c.5287A>C (p.Thr1763Pro) c.5359A>C (p.Thr1787Pro) | |
| 3 | g.38550956T= | CA1358557005 | SCN5A | c.5413A= (p.Thr1805=) c.5416A= (p.Thr1806=) c.5362A= (p.Thr1788=) c.5254A= (p.Thr1752=) c.5317A= (p.Thr1773=) c.5287A= (p.Thr1763=) c.5359A= (p.Thr1787=) | |
| 3 | g.38550957G>A | CA433331688 | SCN5A | c.5412C>T (p.Ala1804=) c.5415C>T (p.Ala1805=) c.5361C>T (p.Ala1787=) c.5253C>T (p.Ala1751=) c.5316C>T (p.Ala1772=) c.5286C>T (p.Ala1762=) c.5358C>T (p.Ala1786=) | |
| 3 | g.38550957G>C | CA433331689 | SCN5A | c.5412C>G (p.Ala1804=) c.5415C>G (p.Ala1805=) c.5361C>G (p.Ala1787=) c.5253C>G (p.Ala1751=) c.5316C>G (p.Ala1772=) c.5286C>G (p.Ala1762=) c.5358C>G (p.Ala1786=) | |
| 3 | g.38550957G>T | CA433331690 | SCN5A | c.5412C>A (p.Ala1804=) c.5415C>A (p.Ala1805=) c.5361C>A (p.Ala1787=) c.5253C>A (p.Ala1751=) c.5316C>A (p.Ala1772=) c.5286C>A (p.Ala1762=) c.5358C>A (p.Ala1786=) | |
| 3 | g.38550958G>A | CA352141160 | SCN5A | c.5411C>T (p.Ala1804Val) c.5414C>T (p.Ala1805Val) c.5360C>T (p.Ala1787Val) c.5252C>T (p.Ala1751Val) c.5315C>T (p.Ala1772Val) c.5285C>T (p.Ala1762Val) c.5357C>T (p.Ala1786Val) | ClinVar dbSNP |
| 3 | g.38550958G>C | CA352141161 | SCN5A | c.5411C>G (p.Ala1804Gly) c.5414C>G (p.Ala1805Gly) c.5360C>G (p.Ala1787Gly) c.5252C>G (p.Ala1751Gly) c.5315C>G (p.Ala1772Gly) c.5285C>G (p.Ala1762Gly) c.5357C>G (p.Ala1786Gly) | |
| 3 | g.38550958G>T | CA352141162 | SCN5A | c.5411C>A (p.Ala1804Asp) c.5414C>A (p.Ala1805Asp) c.5360C>A (p.Ala1787Asp) c.5252C>A (p.Ala1751Asp) c.5315C>A (p.Ala1772Asp) c.5285C>A (p.Ala1762Asp) c.5357C>A (p.Ala1786Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38550959C>A | CA352141163 | SCN5A | c.5410G>T (p.Ala1804Ser) c.5413G>T (p.Ala1805Ser) c.5359G>T (p.Ala1787Ser) c.5251G>T (p.Ala1751Ser) c.5314G>T (p.Ala1772Ser) c.5284G>T (p.Ala1762Ser) c.5356G>T (p.Ala1786Ser) | |
| 3 | g.38550959C>G | CA352141164 | SCN5A | c.5410G>C (p.Ala1804Pro) c.5413G>C (p.Ala1805Pro) c.5359G>C (p.Ala1787Pro) c.5251G>C (p.Ala1751Pro) c.5314G>C (p.Ala1772Pro) c.5284G>C (p.Ala1762Pro) c.5356G>C (p.Ala1786Pro) | |
| 3 | g.38550959C>T | CA352141165 | SCN5A | c.5410G>A (p.Ala1804Thr) c.5413G>A (p.Ala1805Thr) c.5359G>A (p.Ala1787Thr) c.5251G>A (p.Ala1751Thr) c.5314G>A (p.Ala1772Thr) c.5284G>A (p.Ala1762Thr) c.5356G>A (p.Ala1786Thr) | |
| 3 | g.38550960C>A | CA352141167 | SCN5A | c.5409G>T (p.Glu1803Asp) c.5412G>T (p.Glu1804Asp) c.5358G>T (p.Glu1786Asp) c.5250G>T (p.Glu1750Asp) c.5313G>T (p.Glu1771Asp) c.5283G>T (p.Glu1761Asp) c.5355G>T (p.Glu1785Asp) | |
| 3 | g.38550960C>G | CA352141166 | SCN5A | c.5409G>C (p.Glu1803Asp) c.5412G>C (p.Glu1804Asp) c.5358G>C (p.Glu1786Asp) c.5250G>C (p.Glu1750Asp) c.5313G>C (p.Glu1771Asp) c.5283G>C (p.Glu1761Asp) c.5355G>C (p.Glu1785Asp) | |
| 3 | g.38550960C>T | CA433331691 | SCN5A | c.5409G>A (p.Glu1803=) c.5412G>A (p.Glu1804=) c.5358G>A (p.Glu1786=) c.5250G>A (p.Glu1750=) c.5313G>A (p.Glu1771=) c.5283G>A (p.Glu1761=) c.5355G>A (p.Glu1785=) | |
| 3 | g.38550961T>A | CA352141168 | SCN5A | c.5408A>T (p.Glu1803Val) c.5411A>T (p.Glu1804Val) c.5357A>T (p.Glu1786Val) c.5249A>T (p.Glu1750Val) c.5312A>T (p.Glu1771Val) c.5282A>T (p.Glu1761Val) c.5354A>T (p.Glu1785Val) | |
| 3 | g.38550961T>C | CA352141169 | SCN5A | c.5408A>G (p.Glu1803Gly) c.5411A>G (p.Glu1804Gly) c.5357A>G (p.Glu1786Gly) c.5249A>G (p.Glu1750Gly) c.5312A>G (p.Glu1771Gly) c.5282A>G (p.Glu1761Gly) c.5354A>G (p.Glu1785Gly) | |
| 3 | g.38550961T>G | CA352141170 | SCN5A | c.5408A>C (p.Glu1803Ala) c.5411A>C (p.Glu1804Ala) c.5357A>C (p.Glu1786Ala) c.5249A>C (p.Glu1750Ala) c.5312A>C (p.Glu1771Ala) c.5282A>C (p.Glu1761Ala) c.5354A>C (p.Glu1785Ala) | |
| 3 | g.38550962C>A | CA352141171 | SCN5A | c.5407G>T (p.Glu1803Ter) c.5410G>T (p.Glu1804Ter) c.5356G>T (p.Glu1786Ter) c.5248G>T (p.Glu1750Ter) c.5311G>T (p.Glu1771Ter) c.5281G>T (p.Glu1761Ter) c.5353G>T (p.Glu1785Ter) | dbSNP |
| 3 | g.38550962C= | CA1358557007 | SCN5A | c.5407G= (p.Glu1803=) c.5410G= (p.Glu1804=) c.5356G= (p.Glu1786=) c.5248G= (p.Glu1750=) c.5311G= (p.Glu1771=) c.5281G= (p.Glu1761=) c.5353G= (p.Glu1785=) | |
| 3 | g.38550962C>G | CA352141172 | SCN5A | c.5407G>C (p.Glu1803Gln) c.5410G>C (p.Glu1804Gln) c.5356G>C (p.Glu1786Gln) c.5248G>C (p.Glu1750Gln) c.5311G>C (p.Glu1771Gln) c.5281G>C (p.Glu1761Gln) c.5353G>C (p.Glu1785Gln) | ClinVar |