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.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 |
| 3 | g.38550891G>C | CA352141023 | SCN5A | c.5478C>G (p.Ile1826Met) c.5481C>G (p.Ile1827Met) c.5427C>G (p.Ile1809Met) c.5319C>G (p.Ile1773Met) c.5382C>G (p.Ile1794Met) c.5352C>G (p.Ile1784Met) c.5424C>G (p.Ile1808Met) | |
| 3 | g.38550891G= | CA1358556828 | SCN5A | c.5478C= (p.Ile1826=) c.5481C= (p.Ile1827=) c.5427C= (p.Ile1809=) c.5319C= (p.Ile1773=) c.5382C= (p.Ile1794=) c.5352C= (p.Ile1784=) c.5424C= (p.Ile1808=) | |
| 3 | g.38550891G>T | CA433332214 | SCN5A | c.5478C>A (p.Ile1826=) c.5481C>A (p.Ile1827=) c.5427C>A (p.Ile1809=) c.5319C>A (p.Ile1773=) c.5382C>A (p.Ile1794=) c.5352C>A (p.Ile1784=) c.5424C>A (p.Ile1808=) | |
| 3 | g.38550892A>C | CA352141026 | SCN5A | c.5477T>G (p.Ile1826Ser) c.5480T>G (p.Ile1827Ser) c.5426T>G (p.Ile1809Ser) c.5318T>G (p.Ile1773Ser) c.5381T>G (p.Ile1794Ser) c.5351T>G (p.Ile1784Ser) c.5423T>G (p.Ile1808Ser) | |
| 3 | g.38550892A>G | CA352141025 | SCN5A | c.5477T>C (p.Ile1826Thr) c.5480T>C (p.Ile1827Thr) c.5426T>C (p.Ile1809Thr) c.5318T>C (p.Ile1773Thr) c.5381T>C (p.Ile1794Thr) c.5351T>C (p.Ile1784Thr) c.5423T>C (p.Ile1808Thr) | |
| 3 | g.38550892A>T | CA352141024 | SCN5A | c.5477T>A (p.Ile1826Asn) c.5480T>A (p.Ile1827Asn) c.5426T>A (p.Ile1809Asn) c.5318T>A (p.Ile1773Asn) c.5381T>A (p.Ile1794Asn) c.5351T>A (p.Ile1784Asn) c.5423T>A (p.Ile1808Asn) | |
| 3 | g.38550893T>A | CA352141027 | SCN5A | c.5476A>T (p.Ile1826Phe) c.5479A>T (p.Ile1827Phe) c.5425A>T (p.Ile1809Phe) c.5317A>T (p.Ile1773Phe) c.5380A>T (p.Ile1794Phe) c.5350A>T (p.Ile1784Phe) c.5422A>T (p.Ile1808Phe) | |
| 3 | g.38550893T>C | CA352141028 | SCN5A | c.5476A>G (p.Ile1826Val) c.5479A>G (p.Ile1827Val) c.5425A>G (p.Ile1809Val) c.5317A>G (p.Ile1773Val) c.5380A>G (p.Ile1794Val) c.5350A>G (p.Ile1784Val) c.5422A>G (p.Ile1808Val) | |
| 3 | g.38550893T>G | CA352141029 | SCN5A | c.5476A>C (p.Ile1826Leu) c.5479A>C (p.Ile1827Leu) c.5425A>C (p.Ile1809Leu) c.5317A>C (p.Ile1773Leu) c.5380A>C (p.Ile1794Leu) c.5350A>C (p.Ile1784Leu) c.5422A>C (p.Ile1808Leu) | |
| 3 | g.38550894A= | CA1358556836 | SCN5A | c.5475T= (p.Arg1825=) c.5478T= (p.Arg1826=) c.5424T= (p.Arg1808=) c.5316T= (p.Arg1772=) c.5379T= (p.Arg1793=) c.5349T= (p.Arg1783=) c.5421T= (p.Arg1807=) | |
| 3 | g.38550894A>C | CA433332221 | SCN5A | c.5475T>G (p.Arg1825=) c.5478T>G (p.Arg1826=) c.5424T>G (p.Arg1808=) c.5316T>G (p.Arg1772=) c.5379T>G (p.Arg1793=) c.5349T>G (p.Arg1783=) c.5421T>G (p.Arg1807=) | |
| 3 | g.38550894A>G | CA433332222 | SCN5A | c.5475T>C (p.Arg1825=) c.5478T>C (p.Arg1826=) c.5424T>C (p.Arg1808=) c.5316T>C (p.Arg1772=) c.5379T>C (p.Arg1793=) c.5349T>C (p.Arg1783=) c.5421T>C (p.Arg1807=) | |
| 3 | g.38550894A>T | CA16604908 | SCN5A | c.5475T>A (p.Arg1825=) c.5478T>A (p.Arg1826=) c.5424T>A (p.Arg1808=) c.5316T>A (p.Arg1772=) c.5379T>A (p.Arg1793=) c.5349T>A (p.Arg1783=) c.5421T>A (p.Arg1807=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550895C>A | CA352141030 | SCN5A | c.5474G>T (p.Arg1825Leu) c.5477G>T (p.Arg1826Leu) c.5423G>T (p.Arg1808Leu) c.5315G>T (p.Arg1772Leu) c.5378G>T (p.Arg1793Leu) c.5348G>T (p.Arg1783Leu) c.5420G>T (p.Arg1807Leu) | gnomAD v4 |
| 3 | g.38550895C= | CA1358556841 | SCN5A | c.5474G= (p.Arg1825=) c.5477G= (p.Arg1826=) c.5423G= (p.Arg1808=) c.5315G= (p.Arg1772=) c.5378G= (p.Arg1793=) c.5348G= (p.Arg1783=) c.5420G= (p.Arg1807=) | |
| 3 | g.38550895C>G | CA352141031 | SCN5A | c.5474G>C (p.Arg1825Pro) c.5477G>C (p.Arg1826Pro) c.5423G>C (p.Arg1808Pro) c.5315G>C (p.Arg1772Pro) c.5378G>C (p.Arg1793Pro) c.5348G>C (p.Arg1783Pro) c.5420G>C (p.Arg1807Pro) | |
| 3 | g.38550895C>T | CA019280 | SCN5A | c.5474G>A (p.Arg1825His) c.5477G>A (p.Arg1826His) c.5423G>A (p.Arg1808His) c.5315G>A (p.Arg1772His) c.5378G>A (p.Arg1793His) c.5348G>A (p.Arg1783His) c.5420G>A (p.Arg1807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550896G>A | CA019274 | SCN5A | c.5473C>T (p.Arg1825Cys) c.5476C>T (p.Arg1826Cys) c.5422C>T (p.Arg1808Cys) c.5314C>T (p.Arg1772Cys) c.5377C>T (p.Arg1793Cys) c.5347C>T (p.Arg1783Cys) c.5419C>T (p.Arg1807Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550896G>C | CA352141033 | SCN5A | c.5473C>G (p.Arg1825Gly) c.5476C>G (p.Arg1826Gly) c.5422C>G (p.Arg1808Gly) c.5314C>G (p.Arg1772Gly) c.5377C>G (p.Arg1793Gly) c.5347C>G (p.Arg1783Gly) c.5419C>G (p.Arg1807Gly) | |
| 3 | g.38550896G= | CA1358556848 | SCN5A | c.5473C= (p.Arg1825=) c.5476C= (p.Arg1826=) c.5422C= (p.Arg1808=) c.5314C= (p.Arg1772=) c.5377C= (p.Arg1793=) c.5347C= (p.Arg1783=) c.5419C= (p.Arg1807=) | |
| 3 | g.38550896G>T | CA352141032 | SCN5A | c.5473C>A (p.Arg1825Ser) c.5476C>A (p.Arg1826Ser) c.5422C>A (p.Arg1808Ser) c.5314C>A (p.Arg1772Ser) c.5377C>A (p.Arg1793Ser) c.5347C>A (p.Arg1783Ser) c.5419C>A (p.Arg1807Ser) | |
| 3 | g.38550897G>A | CA433332233 | SCN5A | c.5472C>T (p.Leu1824=) c.5475C>T (p.Leu1825=) c.5421C>T (p.Leu1807=) c.5313C>T (p.Leu1771=) c.5376C>T (p.Leu1792=) c.5346C>T (p.Leu1782=) c.5418C>T (p.Leu1806=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550897G>C | CA433332235 | SCN5A | c.5472C>G (p.Leu1824=) c.5475C>G (p.Leu1825=) c.5421C>G (p.Leu1807=) c.5313C>G (p.Leu1771=) c.5376C>G (p.Leu1792=) c.5346C>G (p.Leu1782=) c.5418C>G (p.Leu1806=) | |
| 3 | g.38550897G= | CA1358556853 | SCN5A | c.5472C= (p.Leu1824=) c.5475C= (p.Leu1825=) c.5421C= (p.Leu1807=) c.5313C= (p.Leu1771=) c.5376C= (p.Leu1792=) c.5346C= (p.Leu1782=) c.5418C= (p.Leu1806=) | |
| 3 | g.38550897G>T | CA433332237 | SCN5A | c.5472C>A (p.Leu1824=) c.5475C>A (p.Leu1825=) c.5421C>A (p.Leu1807=) c.5313C>A (p.Leu1771=) c.5376C>A (p.Leu1792=) c.5346C>A (p.Leu1782=) c.5418C>A (p.Leu1806=) | |
| 3 | g.38550898A= | CA1358556858 | SCN5A | c.5471T= (p.Leu1824=) c.5474T= (p.Leu1825=) c.5420T= (p.Leu1807=) c.5312T= (p.Leu1771=) c.5375T= (p.Leu1792=) c.5345T= (p.Leu1782=) c.5417T= (p.Leu1806=) | |
| 3 | g.38550898A>C | CA352141034 | SCN5A | c.5471T>G (p.Leu1824Arg) c.5474T>G (p.Leu1825Arg) c.5420T>G (p.Leu1807Arg) c.5312T>G (p.Leu1771Arg) c.5375T>G (p.Leu1792Arg) c.5345T>G (p.Leu1782Arg) c.5417T>G (p.Leu1806Arg) | |
| 3 | g.38550898A>G | CA019266 | SCN5A | c.5471T>C (p.Leu1824Pro) c.5474T>C (p.Leu1825Pro) c.5420T>C (p.Leu1807Pro) c.5312T>C (p.Leu1771Pro) c.5375T>C (p.Leu1792Pro) c.5345T>C (p.Leu1782Pro) c.5417T>C (p.Leu1806Pro) | ClinVar dbSNP |
| 3 | g.38550898A>T | CA352141035 | SCN5A | c.5471T>A (p.Leu1824His) c.5474T>A (p.Leu1825His) c.5420T>A (p.Leu1807His) c.5312T>A (p.Leu1771His) c.5375T>A (p.Leu1792His) c.5345T>A (p.Leu1782His) c.5417T>A (p.Leu1806His) | |
| 3 | g.38550899G>A | CA352141036 | SCN5A | c.5470C>T (p.Leu1824Phe) c.5473C>T (p.Leu1825Phe) c.5419C>T (p.Leu1807Phe) c.5311C>T (p.Leu1771Phe) c.5374C>T (p.Leu1792Phe) c.5344C>T (p.Leu1782Phe) c.5416C>T (p.Leu1806Phe) | |
| 3 | g.38550899G>C | CA352141037 | SCN5A | c.5470C>G (p.Leu1824Val) c.5473C>G (p.Leu1825Val) c.5419C>G (p.Leu1807Val) c.5311C>G (p.Leu1771Val) c.5374C>G (p.Leu1792Val) c.5344C>G (p.Leu1782Val) c.5416C>G (p.Leu1806Val) | |
| 3 | g.38550899G>T | CA352141038 | SCN5A | c.5470C>A (p.Leu1824Ile) c.5473C>A (p.Leu1825Ile) c.5419C>A (p.Leu1807Ile) c.5311C>A (p.Leu1771Ile) c.5374C>A (p.Leu1792Ile) c.5344C>A (p.Leu1782Ile) c.5416C>A (p.Leu1806Ile) | |
| 3 | g.38550900T>A | CA433332241 | SCN5A | c.5469A>T (p.Pro1823=) c.5472A>T (p.Pro1824=) c.5418A>T (p.Pro1806=) c.5310A>T (p.Pro1770=) c.5373A>T (p.Pro1791=) c.5343A>T (p.Pro1781=) c.5415A>T (p.Pro1805=) | |
| 3 | g.38550900T>C | CA433332254 | SCN5A | c.5469A>G (p.Pro1823=) c.5472A>G (p.Pro1824=) c.5418A>G (p.Pro1806=) c.5310A>G (p.Pro1770=) c.5373A>G (p.Pro1791=) c.5343A>G (p.Pro1781=) c.5415A>G (p.Pro1805=) | ClinVar |
| 3 | g.38550900T>G | CA433332255 | SCN5A | c.5469A>C (p.Pro1823=) c.5472A>C (p.Pro1824=) c.5418A>C (p.Pro1806=) c.5310A>C (p.Pro1770=) c.5373A>C (p.Pro1791=) c.5343A>C (p.Pro1781=) c.5415A>C (p.Pro1805=) | dbSNP |
| 3 | g.38550900T= | CA1358556861 | SCN5A | c.5469A= (p.Pro1823=) c.5472A= (p.Pro1824=) c.5418A= (p.Pro1806=) c.5310A= (p.Pro1770=) c.5373A= (p.Pro1791=) c.5343A= (p.Pro1781=) c.5415A= (p.Pro1805=) | |
| 3 | g.38550901G>A | CA352141039 | SCN5A | c.5468C>T (p.Pro1823Leu) c.5471C>T (p.Pro1824Leu) c.5417C>T (p.Pro1806Leu) c.5309C>T (p.Pro1770Leu) c.5372C>T (p.Pro1791Leu) c.5342C>T (p.Pro1781Leu) c.5414C>T (p.Pro1805Leu) | ClinVar dbSNP |
| 3 | g.38550901G>C | CA352141040 | SCN5A | c.5468C>G (p.Pro1823Arg) c.5471C>G (p.Pro1824Arg) c.5417C>G (p.Pro1806Arg) c.5309C>G (p.Pro1770Arg) c.5372C>G (p.Pro1791Arg) c.5342C>G (p.Pro1781Arg) c.5414C>G (p.Pro1805Arg) | |
| 3 | g.38550901G= | CA1358556864 | SCN5A | c.5468C= (p.Pro1823=) c.5471C= (p.Pro1824=) c.5417C= (p.Pro1806=) c.5309C= (p.Pro1770=) c.5372C= (p.Pro1791=) c.5342C= (p.Pro1781=) c.5414C= (p.Pro1805=) | |
| 3 | g.38550901G>T | CA352141041 | SCN5A | c.5468C>A (p.Pro1823Gln) c.5471C>A (p.Pro1824Gln) c.5417C>A (p.Pro1806Gln) c.5309C>A (p.Pro1770Gln) c.5372C>A (p.Pro1791Gln) c.5342C>A (p.Pro1781Gln) c.5414C>A (p.Pro1805Gln) | |
| 3 | g.38550902G>A | CA352141042 | SCN5A | c.5467C>T (p.Pro1823Ser) c.5470C>T (p.Pro1824Ser) c.5416C>T (p.Pro1806Ser) c.5308C>T (p.Pro1770Ser) c.5371C>T (p.Pro1791Ser) c.5341C>T (p.Pro1781Ser) c.5413C>T (p.Pro1805Ser) | |
| 3 | g.38550902G>C | CA019262 | SCN5A | c.5467C>G (p.Pro1823Ala) c.5470C>G (p.Pro1824Ala) c.5416C>G (p.Pro1806Ala) c.5308C>G (p.Pro1770Ala) c.5371C>G (p.Pro1791Ala) c.5341C>G (p.Pro1781Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550902G= | CA1358556867 | SCN5A | c.5467C= (p.Pro1823=) c.5470C= (p.Pro1824=) c.5416C= (p.Pro1806=) c.5308C= (p.Pro1770=) c.5371C= (p.Pro1791=) c.5341C= (p.Pro1781=) c.5413C= (p.Pro1805=) | |
| 3 | g.38550902G>T | CA352141043 | SCN5A | c.5467C>A (p.Pro1823Thr) c.5470C>A (p.Pro1824Thr) c.5416C>A (p.Pro1806Thr) c.5308C>A (p.Pro1770Thr) c.5371C>A (p.Pro1791Thr) c.5341C>A (p.Pro1781Thr) c.5413C>A (p.Pro1805Thr) | gnomAD v4 |
| 3 | g.38550903C>A | CA352141045 | SCN5A | c.5466G>T (p.Glu1822Asp) c.5469G>T (p.Glu1823Asp) c.5415G>T (p.Glu1805Asp) c.5307G>T (p.Glu1769Asp) c.5370G>T (p.Glu1790Asp) c.5340G>T (p.Glu1780Asp) c.5412G>T (p.Glu1804Asp) | |
| 3 | g.38550903C>G | CA352141044 | SCN5A | c.5466G>C (p.Glu1822Asp) c.5469G>C (p.Glu1823Asp) c.5415G>C (p.Glu1805Asp) c.5307G>C (p.Glu1769Asp) c.5370G>C (p.Glu1790Asp) c.5340G>C (p.Glu1780Asp) c.5412G>C (p.Glu1804Asp) | |
| 3 | g.38550903C>T | CA433332264 | SCN5A | c.5466G>A (p.Glu1822=) c.5469G>A (p.Glu1823=) c.5415G>A (p.Glu1805=) c.5307G>A (p.Glu1769=) c.5370G>A (p.Glu1790=) c.5340G>A (p.Glu1780=) c.5412G>A (p.Glu1804=) | |
| 3 | g.38550904T>A | CA352141046 | SCN5A | c.5465A>T (p.Glu1822Val) c.5468A>T (p.Glu1823Val) c.5414A>T (p.Glu1805Val) c.5306A>T (p.Glu1769Val) c.5369A>T (p.Glu1790Val) c.5339A>T (p.Glu1780Val) c.5411A>T (p.Glu1804Val) | |
| 3 | g.38550904T>C | CA352141048 | SCN5A | c.5465A>G (p.Glu1822Gly) c.5468A>G (p.Glu1823Gly) c.5414A>G (p.Glu1805Gly) c.5306A>G (p.Glu1769Gly) c.5369A>G (p.Glu1790Gly) c.5339A>G (p.Glu1780Gly) c.5411A>G (p.Glu1804Gly) |