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.38550925_38550929delinsTCAGA | CA1358556933 | SCN5A | c.5440_5444delinsTCTGA (p.Ser1814=) c.5443_5447delinsTCTGA (p.Ser1815=) c.5389_5393delinsTCTGA (p.Ser1797=) c.5281_5285delinsTCTGA (p.Ser1761=) c.5344_5348delinsTCTGA (p.Ser1782=) c.5314_5318delinsTCTGA (p.Ser1772=) c.5386_5390delinsTCTGA (p.Ser1796=) | |
| 3 | g.38550929_38550932del | CA1139657961 | SCN5A | c.5440_5443del (p.Ser1814ThrfsTer18) c.5443_5446del (p.Ser1815ThrfsTer18) c.5389_5392del (p.Ser1797ThrfsTer18) c.5281_5284del (p.Ser1761ThrfsTer18) c.5344_5347del (p.Ser1782ThrfsTer18) c.5314_5317del (p.Ser1772ThrfsTer18) c.5386_5389del (p.Ser1796ThrfsTer18) | ClinVar dbSNP |
| 3 | g.38550929A>C | CA352141099 | SCN5A | c.5440T>G (p.Ser1814Ala) c.5443T>G (p.Ser1815Ala) c.5389T>G (p.Ser1797Ala) c.5281T>G (p.Ser1761Ala) c.5344T>G (p.Ser1782Ala) c.5314T>G (p.Ser1772Ala) c.5386T>G (p.Ser1796Ala) | |
| 3 | g.38550929A>G | CA352141100 | SCN5A | c.5440T>C (p.Ser1814Pro) c.5443T>C (p.Ser1815Pro) c.5389T>C (p.Ser1797Pro) c.5281T>C (p.Ser1761Pro) c.5344T>C (p.Ser1782Pro) c.5314T>C (p.Ser1772Pro) c.5386T>C (p.Ser1796Pro) | |
| 3 | g.38550929A>T | CA352141098 | SCN5A | c.5440T>A (p.Ser1814Thr) c.5443T>A (p.Ser1815Thr) c.5389T>A (p.Ser1797Thr) c.5281T>A (p.Ser1761Thr) c.5344T>A (p.Ser1782Thr) c.5314T>A (p.Ser1772Thr) c.5386T>A (p.Ser1796Thr) | |
| 3 | g.38550930C>A | CA433331605 | SCN5A | c.5439G>T (p.Leu1813=) c.5442G>T (p.Leu1814=) c.5388G>T (p.Leu1796=) c.5280G>T (p.Leu1760=) c.5343G>T (p.Leu1781=) c.5313G>T (p.Leu1771=) c.5385G>T (p.Leu1795=) | |
| 3 | g.38550930C>G | CA433331606 | SCN5A | c.5439G>C (p.Leu1813=) c.5442G>C (p.Leu1814=) c.5388G>C (p.Leu1796=) c.5280G>C (p.Leu1760=) c.5343G>C (p.Leu1781=) c.5313G>C (p.Leu1771=) c.5385G>C (p.Leu1795=) | |
| 3 | g.38550930C>T | CA433331607 | SCN5A | c.5439G>A (p.Leu1813=) c.5442G>A (p.Leu1814=) c.5388G>A (p.Leu1796=) c.5280G>A (p.Leu1760=) c.5343G>A (p.Leu1781=) c.5313G>A (p.Leu1771=) c.5385G>A (p.Leu1795=) | |
| 3 | g.38550931A>C | CA352141103 | SCN5A | c.5438T>G (p.Leu1813Arg) c.5441T>G (p.Leu1814Arg) c.5387T>G (p.Leu1796Arg) c.5279T>G (p.Leu1760Arg) c.5342T>G (p.Leu1781Arg) c.5312T>G (p.Leu1771Arg) c.5384T>G (p.Leu1795Arg) | |
| 3 | g.38550931A>G | CA352141101 | SCN5A | c.5438T>C (p.Leu1813Pro) c.5441T>C (p.Leu1814Pro) c.5387T>C (p.Leu1796Pro) c.5279T>C (p.Leu1760Pro) c.5342T>C (p.Leu1781Pro) c.5312T>C (p.Leu1771Pro) c.5384T>C (p.Leu1795Pro) | |
| 3 | g.38550931A>T | CA352141102 | SCN5A | c.5438T>A (p.Leu1813Gln) c.5441T>A (p.Leu1814Gln) c.5387T>A (p.Leu1796Gln) c.5279T>A (p.Leu1760Gln) c.5342T>A (p.Leu1781Gln) c.5312T>A (p.Leu1771Gln) c.5384T>A (p.Leu1795Gln) | |
| 3 | g.38550932G>A | CA433331608 | SCN5A | c.5437C>T (p.Leu1813=) c.5440C>T (p.Leu1814=) c.5386C>T (p.Leu1796=) c.5278C>T (p.Leu1760=) c.5341C>T (p.Leu1781=) c.5311C>T (p.Leu1771=) c.5383C>T (p.Leu1795=) | gnomAD v4 |
| 3 | g.38550932G>C | CA352141104 | SCN5A | c.5437C>G (p.Leu1813Val) c.5440C>G (p.Leu1814Val) c.5386C>G (p.Leu1796Val) c.5278C>G (p.Leu1760Val) c.5341C>G (p.Leu1781Val) c.5311C>G (p.Leu1771Val) c.5383C>G (p.Leu1795Val) | gnomAD v4 |
| 3 | g.38550932G>T | CA352141105 | SCN5A | c.5437C>A (p.Leu1813Met) c.5440C>A (p.Leu1814Met) c.5386C>A (p.Leu1796Met) c.5278C>A (p.Leu1760Met) c.5341C>A (p.Leu1781Met) c.5311C>A (p.Leu1771Met) c.5383C>A (p.Leu1795Met) | |
| 3 | g.38550933G>A | CA433331614 | SCN5A | c.5436C>T (p.Val1812=) c.5439C>T (p.Val1813=) c.5385C>T (p.Val1795=) c.5277C>T (p.Val1759=) c.5340C>T (p.Val1780=) c.5310C>T (p.Val1770=) c.5382C>T (p.Val1794=) | dbSNP |
| 3 | g.38550933G>C | CA433331616 | SCN5A | c.5436C>G (p.Val1812=) c.5439C>G (p.Val1813=) c.5385C>G (p.Val1795=) c.5277C>G (p.Val1759=) c.5340C>G (p.Val1780=) c.5310C>G (p.Val1770=) c.5382C>G (p.Val1794=) | ClinVar dbSNP |
| 3 | g.38550933G>T | CA433331615 | SCN5A | c.5436C>A (p.Val1812=) c.5439C>A (p.Val1813=) c.5385C>A (p.Val1795=) c.5277C>A (p.Val1759=) c.5340C>A (p.Val1780=) c.5310C>A (p.Val1770=) c.5382C>A (p.Val1794=) | |
| 3 | g.38550934A>C | CA352141106 | SCN5A | c.5435T>G (p.Val1812Gly) c.5438T>G (p.Val1813Gly) c.5384T>G (p.Val1795Gly) c.5276T>G (p.Val1759Gly) c.5339T>G (p.Val1780Gly) c.5309T>G (p.Val1770Gly) c.5381T>G (p.Val1794Gly) | |
| 3 | g.38550934A>G | CA352141107 | SCN5A | c.5435T>C (p.Val1812Ala) c.5438T>C (p.Val1813Ala) c.5384T>C (p.Val1795Ala) c.5276T>C (p.Val1759Ala) c.5339T>C (p.Val1780Ala) c.5309T>C (p.Val1770Ala) c.5381T>C (p.Val1794Ala) | |
| 3 | g.38550934A>T | CA352141108 | SCN5A | c.5435T>A (p.Val1812Asp) c.5438T>A (p.Val1813Asp) c.5384T>A (p.Val1795Asp) c.5276T>A (p.Val1759Asp) c.5339T>A (p.Val1780Asp) c.5309T>A (p.Val1770Asp) c.5381T>A (p.Val1794Asp) | |
| 3 | g.38550935C>A | CA352141109 | SCN5A | c.5434G>T (p.Val1812Phe) c.5437G>T (p.Val1813Phe) c.5383G>T (p.Val1795Phe) c.5275G>T (p.Val1759Phe) c.5338G>T (p.Val1780Phe) c.5308G>T (p.Val1770Phe) c.5380G>T (p.Val1794Phe) | |
| 3 | g.38550935C>G | CA352141110 | SCN5A | c.5434G>C (p.Val1812Leu) c.5437G>C (p.Val1813Leu) c.5383G>C (p.Val1795Leu) c.5275G>C (p.Val1759Leu) c.5338G>C (p.Val1780Leu) c.5308G>C (p.Val1770Leu) c.5380G>C (p.Val1794Leu) | |
| 3 | g.38550935C>T | CA352141111 | SCN5A | c.5434G>A (p.Val1812Ile) c.5437G>A (p.Val1813Ile) c.5383G>A (p.Val1795Ile) c.5275G>A (p.Val1759Ile) c.5338G>A (p.Val1780Ile) c.5308G>A (p.Val1770Ile) c.5380G>A (p.Val1794Ile) | |
| 3 | g.38550936C>A | CA433331621 | SCN5A | c.5433G>T (p.Ser1811=) c.5436G>T (p.Ser1812=) c.5382G>T (p.Ser1794=) c.5274G>T (p.Ser1758=) c.5337G>T (p.Ser1779=) c.5307G>T (p.Ser1769=) c.5379G>T (p.Ser1793=) | |
| 3 | g.38550936C= | CA1358556948 | SCN5A | c.5433G= (p.Ser1811=) c.5436G= (p.Ser1812=) c.5382G= (p.Ser1794=) c.5274G= (p.Ser1758=) c.5337G= (p.Ser1779=) c.5307G= (p.Ser1769=) c.5379G= (p.Ser1793=) | |
| 3 | g.38550936C>G | CA433331623 | SCN5A | c.5433G>C (p.Ser1811=) c.5436G>C (p.Ser1812=) c.5382G>C (p.Ser1794=) c.5274G>C (p.Ser1758=) c.5337G>C (p.Ser1779=) c.5307G>C (p.Ser1769=) c.5379G>C (p.Ser1793=) | |
| 3 | g.38550936C>T | CA019225 | SCN5A | c.5433G>A (p.Ser1811=) c.5436G>A (p.Ser1812=) c.5382G>A (p.Ser1794=) c.5274G>A (p.Ser1758=) c.5337G>A (p.Ser1779=) c.5307G>A (p.Ser1769=) c.5379G>A (p.Ser1793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550937G>A | CA019218 | SCN5A | c.5432C>T (p.Ser1811Leu) c.5435C>T (p.Ser1812Leu) c.5381C>T (p.Ser1794Leu) c.5273C>T (p.Ser1758Leu) c.5336C>T (p.Ser1779Leu) c.5306C>T (p.Ser1769Leu) c.5378C>T (p.Ser1793Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550937G>C | CA352141113 | SCN5A | c.5432C>G (p.Ser1811Trp) c.5435C>G (p.Ser1812Trp) c.5381C>G (p.Ser1794Trp) c.5273C>G (p.Ser1758Trp) c.5336C>G (p.Ser1779Trp) c.5306C>G (p.Ser1769Trp) c.5378C>G (p.Ser1793Trp) | |
| 3 | g.38550937G= | CA1358556956 | SCN5A | c.5432C= (p.Ser1811=) c.5435C= (p.Ser1812=) c.5381C= (p.Ser1794=) c.5273C= (p.Ser1758=) c.5336C= (p.Ser1779=) c.5306C= (p.Ser1769=) c.5378C= (p.Ser1793=) | |
| 3 | g.38550937G>T | CA352141112 | SCN5A | c.5432C>A (p.Ser1811Ter) c.5435C>A (p.Ser1812Ter) c.5381C>A (p.Ser1794Ter) c.5273C>A (p.Ser1758Ter) c.5336C>A (p.Ser1779Ter) c.5306C>A (p.Ser1769Ter) c.5378C>A (p.Ser1793Ter) | dbSNP gnomAD v4 |
| 3 | g.38550938A>C | CA352141114 | SCN5A | c.5431T>G (p.Ser1811Ala) c.5434T>G (p.Ser1812Ala) c.5380T>G (p.Ser1794Ala) c.5272T>G (p.Ser1758Ala) c.5335T>G (p.Ser1779Ala) c.5305T>G (p.Ser1769Ala) c.5377T>G (p.Ser1793Ala) | |
| 3 | g.38550938A>G | CA352141115 | SCN5A | c.5431T>C (p.Ser1811Pro) c.5434T>C (p.Ser1812Pro) c.5380T>C (p.Ser1794Pro) c.5272T>C (p.Ser1758Pro) c.5335T>C (p.Ser1779Pro) c.5305T>C (p.Ser1769Pro) c.5377T>C (p.Ser1793Pro) | |
| 3 | g.38550938A>T | CA352141116 | SCN5A | c.5431T>A (p.Ser1811Thr) c.5434T>A (p.Ser1812Thr) c.5380T>A (p.Ser1794Thr) c.5272T>A (p.Ser1758Thr) c.5335T>A (p.Ser1779Thr) c.5305T>A (p.Ser1769Thr) c.5377T>A (p.Ser1793Thr) | |
| 3 | g.38550939A>C | CA352141117 | SCN5A | c.5430T>G (p.Tyr1810Ter) c.5433T>G (p.Tyr1811Ter) c.5379T>G (p.Tyr1793Ter) c.5271T>G (p.Tyr1757Ter) c.5334T>G (p.Tyr1778Ter) c.5304T>G (p.Tyr1768Ter) c.5376T>G (p.Tyr1792Ter) | |
| 3 | g.38550939A>G | CA433331632 | SCN5A | c.5430T>C (p.Tyr1810=) c.5433T>C (p.Tyr1811=) c.5379T>C (p.Tyr1793=) c.5271T>C (p.Tyr1757=) c.5334T>C (p.Tyr1778=) c.5304T>C (p.Tyr1768=) c.5376T>C (p.Tyr1792=) | |
| 3 | g.38550939A>T | CA352141118 | SCN5A | c.5430T>A (p.Tyr1810Ter) c.5433T>A (p.Tyr1811Ter) c.5379T>A (p.Tyr1793Ter) c.5271T>A (p.Tyr1757Ter) c.5334T>A (p.Tyr1778Ter) c.5304T>A (p.Tyr1768Ter) c.5376T>A (p.Tyr1792Ter) | |
| 3 | g.38550940T>A | CA352141119 | SCN5A | c.5429A>T (p.Tyr1810Phe) c.5432A>T (p.Tyr1811Phe) c.5378A>T (p.Tyr1793Phe) c.5270A>T (p.Tyr1757Phe) c.5333A>T (p.Tyr1778Phe) c.5303A>T (p.Tyr1768Phe) c.5375A>T (p.Tyr1792Phe) | |
| 3 | g.38550940T>C | CA352141120 | SCN5A | c.5429A>G (p.Tyr1810Cys) c.5432A>G (p.Tyr1811Cys) c.5378A>G (p.Tyr1793Cys) c.5270A>G (p.Tyr1757Cys) c.5333A>G (p.Tyr1778Cys) c.5303A>G (p.Tyr1768Cys) c.5375A>G (p.Tyr1792Cys) | |
| 3 | g.38550940T>G | CA352141121 | SCN5A | c.5429A>C (p.Tyr1810Ser) c.5432A>C (p.Tyr1811Ser) c.5378A>C (p.Tyr1793Ser) c.5270A>C (p.Tyr1757Ser) c.5333A>C (p.Tyr1778Ser) c.5303A>C (p.Tyr1768Ser) c.5375A>C (p.Tyr1792Ser) | |
| 3 | g.38550941A>C | CA352141122 | SCN5A | c.5428T>G (p.Tyr1810Asp) c.5431T>G (p.Tyr1811Asp) c.5377T>G (p.Tyr1793Asp) c.5269T>G (p.Tyr1757Asp) c.5332T>G (p.Tyr1778Asp) c.5302T>G (p.Tyr1768Asp) c.5374T>G (p.Tyr1792Asp) | |
| 3 | g.38550941A>G | CA352141123 | SCN5A | c.5428T>C (p.Tyr1810His) c.5431T>C (p.Tyr1811His) c.5377T>C (p.Tyr1793His) c.5269T>C (p.Tyr1757His) c.5332T>C (p.Tyr1778His) c.5302T>C (p.Tyr1768His) c.5374T>C (p.Tyr1792His) | gnomAD v4 |
| 3 | g.38550941A>T | CA352141124 | SCN5A | c.5428T>A (p.Tyr1810Asn) c.5431T>A (p.Tyr1811Asn) c.5377T>A (p.Tyr1793Asn) c.5269T>A (p.Tyr1757Asn) c.5332T>A (p.Tyr1778Asn) c.5302T>A (p.Tyr1768Asn) c.5374T>A (p.Tyr1792Asn) | |
| 3 | g.38550942C>A | CA352141125 | SCN5A | c.5427G>T (p.Glu1809Asp) c.5430G>T (p.Glu1810Asp) c.5376G>T (p.Glu1792Asp) c.5268G>T (p.Glu1756Asp) c.5331G>T (p.Glu1777Asp) c.5301G>T (p.Glu1767Asp) c.5373G>T (p.Glu1791Asp) | |
| 3 | g.38550942C>G | CA352141126 | SCN5A | c.5427G>C (p.Glu1809Asp) c.5430G>C (p.Glu1810Asp) c.5376G>C (p.Glu1792Asp) c.5268G>C (p.Glu1756Asp) c.5331G>C (p.Glu1777Asp) c.5301G>C (p.Glu1767Asp) c.5373G>C (p.Glu1791Asp) | |
| 3 | g.38550942C>T | CA433331638 | SCN5A | c.5427G>A (p.Glu1809=) c.5430G>A (p.Glu1810=) c.5376G>A (p.Glu1792=) c.5268G>A (p.Glu1756=) c.5331G>A (p.Glu1777=) c.5301G>A (p.Glu1767=) c.5373G>A (p.Glu1791=) | |
| 3 | g.38550943T>A | CA352141128 | SCN5A | c.5426A>T (p.Glu1809Val) c.5429A>T (p.Glu1810Val) c.5375A>T (p.Glu1792Val) c.5267A>T (p.Glu1756Val) c.5330A>T (p.Glu1777Val) c.5300A>T (p.Glu1767Val) c.5372A>T (p.Glu1791Val) | ClinVar |
| 3 | g.38550943T>C | CA352141129 | SCN5A | c.5426A>G (p.Glu1809Gly) c.5429A>G (p.Glu1810Gly) c.5375A>G (p.Glu1792Gly) c.5267A>G (p.Glu1756Gly) c.5330A>G (p.Glu1777Gly) c.5300A>G (p.Glu1767Gly) c.5372A>G (p.Glu1791Gly) | |
| 3 | g.38550943T>G | CA352141127 | SCN5A | c.5426A>C (p.Glu1809Ala) c.5429A>C (p.Glu1810Ala) c.5375A>C (p.Glu1792Ala) c.5267A>C (p.Glu1756Ala) c.5330A>C (p.Glu1777Ala) c.5300A>C (p.Glu1767Ala) c.5372A>C (p.Glu1791Ala) | |
| 3 | g.38550944C>A | CA16611373 | SCN5A | c.5425G>T (p.Glu1809Ter) c.5428G>T (p.Glu1810Ter) c.5374G>T (p.Glu1792Ter) c.5266G>T (p.Glu1756Ter) c.5329G>T (p.Glu1777Ter) c.5299G>T (p.Glu1767Ter) c.5371G>T (p.Glu1791Ter) | ClinVar dbSNP |