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.38550778G>A | CA352140707 | SCN5A | c.5591C>T (p.Ser1864Phe) c.5594C>T (p.Ser1865Phe) c.5540C>T (p.Ser1847Phe) c.5432C>T (p.Ser1811Phe) c.5495C>T (p.Ser1832Phe) c.5465C>T (p.Ser1822Phe) c.5537C>T (p.Ser1846Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38550778G>C | CA352140709 | SCN5A | c.5591C>G (p.Ser1864Cys) c.5594C>G (p.Ser1865Cys) c.5540C>G (p.Ser1847Cys) c.5432C>G (p.Ser1811Cys) c.5495C>G (p.Ser1832Cys) c.5465C>G (p.Ser1822Cys) c.5537C>G (p.Ser1846Cys) | |
| 3 | g.38550778G>T | CA352140710 | SCN5A | c.5591C>A (p.Ser1864Tyr) c.5594C>A (p.Ser1865Tyr) c.5540C>A (p.Ser1847Tyr) c.5432C>A (p.Ser1811Tyr) c.5495C>A (p.Ser1832Tyr) c.5465C>A (p.Ser1822Tyr) c.5537C>A (p.Ser1846Tyr) | |
| 3 | g.38550778_38550781dup | CA2586965744 | SCN5A | c.5588_5591dup (p.Gly1865ValfsTer?) c.5591_5594dup (p.Gly1866ValfsTer?) c.5537_5540dup (p.Gly1848ValfsTer?) c.5429_5432dup (p.Gly1812ValfsTer?) c.5492_5495dup (p.Gly1833ValfsTer?) c.5462_5465dup (p.Gly1823ValfsTer?) c.5534_5537dup (p.Gly1847ValfsTer?) | |
| 3 | g.38550779A>C | CA352140713 | SCN5A | c.5590T>G (p.Ser1864Ala) c.5593T>G (p.Ser1865Ala) c.5539T>G (p.Ser1847Ala) c.5431T>G (p.Ser1811Ala) c.5494T>G (p.Ser1832Ala) c.5464T>G (p.Ser1822Ala) c.5536T>G (p.Ser1846Ala) | |
| 3 | g.38550779A>G | CA352140714 | SCN5A | c.5590T>C (p.Ser1864Pro) c.5593T>C (p.Ser1865Pro) c.5539T>C (p.Ser1847Pro) c.5431T>C (p.Ser1811Pro) c.5494T>C (p.Ser1832Pro) c.5464T>C (p.Ser1822Pro) c.5536T>C (p.Ser1846Pro) | |
| 3 | g.38550779A>T | CA352140716 | SCN5A | c.5590T>A (p.Ser1864Thr) c.5593T>A (p.Ser1865Thr) c.5539T>A (p.Ser1847Thr) c.5431T>A (p.Ser1811Thr) c.5494T>A (p.Ser1832Thr) c.5464T>A (p.Ser1822Thr) c.5536T>A (p.Ser1846Thr) | |
| 3 | g.38550780C>A | CA019360 | SCN5A | c.5589G>T (p.Glu1863Asp) c.5592G>T (p.Glu1864Asp) c.5538G>T (p.Glu1846Asp) c.5430G>T (p.Glu1810Asp) c.5493G>T (p.Glu1831Asp) c.5463G>T (p.Glu1821Asp) c.5535G>T (p.Glu1845Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550780C= | CA1358556579 | SCN5A | c.5589G= (p.Glu1863=) c.5592G= (p.Glu1864=) c.5538G= (p.Glu1846=) c.5430G= (p.Glu1810=) c.5493G= (p.Glu1831=) c.5463G= (p.Glu1821=) c.5535G= (p.Glu1845=) | |
| 3 | g.38550780C>G | CA352140719 | SCN5A | c.5589G>C (p.Glu1863Asp) c.5592G>C (p.Glu1864Asp) c.5538G>C (p.Glu1846Asp) c.5430G>C (p.Glu1810Asp) c.5493G>C (p.Glu1831Asp) c.5463G>C (p.Glu1821Asp) c.5535G>C (p.Glu1845Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550780C>T | CA433331908 | SCN5A | c.5589G>A (p.Glu1863=) c.5592G>A (p.Glu1864=) c.5538G>A (p.Glu1846=) c.5430G>A (p.Glu1810=) c.5493G>A (p.Glu1831=) c.5463G>A (p.Glu1821=) c.5535G>A (p.Glu1845=) | |
| 3 | g.38550781T>A | CA352140721 | SCN5A | c.5588A>T (p.Glu1863Val) c.5591A>T (p.Glu1864Val) c.5537A>T (p.Glu1846Val) c.5429A>T (p.Glu1810Val) c.5492A>T (p.Glu1831Val) c.5462A>T (p.Glu1821Val) c.5534A>T (p.Glu1845Val) | |
| 3 | g.38550781T>C | CA352140722 | SCN5A | c.5588A>G (p.Glu1863Gly) c.5591A>G (p.Glu1864Gly) c.5537A>G (p.Glu1846Gly) c.5429A>G (p.Glu1810Gly) c.5492A>G (p.Glu1831Gly) c.5462A>G (p.Glu1821Gly) c.5534A>G (p.Glu1845Gly) | ClinVar dbSNP |
| 3 | g.38550781T>G | CA352140724 | SCN5A | c.5588A>C (p.Glu1863Ala) c.5591A>C (p.Glu1864Ala) c.5537A>C (p.Glu1846Ala) c.5429A>C (p.Glu1810Ala) c.5492A>C (p.Glu1831Ala) c.5462A>C (p.Glu1821Ala) c.5534A>C (p.Glu1845Ala) | ClinVar |
| 3 | g.38550782C>A | CA16611370 | SCN5A | c.5587G>T (p.Glu1863Ter) c.5590G>T (p.Glu1864Ter) c.5536G>T (p.Glu1846Ter) c.5428G>T (p.Glu1810Ter) c.5491G>T (p.Glu1831Ter) c.5461G>T (p.Glu1821Ter) c.5533G>T (p.Glu1845Ter) | ClinVar dbSNP |
| 3 | g.38550782C= | CA1358556587 | SCN5A | c.5587G= (p.Glu1863=) c.5590G= (p.Glu1864=) c.5536G= (p.Glu1846=) c.5428G= (p.Glu1810=) c.5491G= (p.Glu1831=) c.5461G= (p.Glu1821=) c.5533G= (p.Glu1845=) | |
| 3 | g.38550782C>G | CA352140728 | SCN5A | c.5587G>C (p.Glu1863Gln) c.5590G>C (p.Glu1864Gln) c.5536G>C (p.Glu1846Gln) c.5428G>C (p.Glu1810Gln) c.5491G>C (p.Glu1831Gln) c.5461G>C (p.Glu1821Gln) c.5533G>C (p.Glu1845Gln) | |
| 3 | g.38550782C>T | CA352140726 | SCN5A | c.5587G>A (p.Glu1863Lys) c.5590G>A (p.Glu1864Lys) c.5536G>A (p.Glu1846Lys) c.5428G>A (p.Glu1810Lys) c.5491G>A (p.Glu1831Lys) c.5461G>A (p.Glu1821Lys) c.5533G>A (p.Glu1845Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550783C>A | CA433331912 | SCN5A | c.5586G>T (p.Gly1862=) c.5589G>T (p.Gly1863=) c.5535G>T (p.Gly1845=) c.5427G>T (p.Gly1809=) c.5490G>T (p.Gly1830=) c.5460G>T (p.Gly1820=) c.5532G>T (p.Gly1844=) | |
| 3 | g.38550783C= | CA1358556597 | SCN5A | c.5586G= (p.Gly1862=) c.5589G= (p.Gly1863=) c.5535G= (p.Gly1845=) c.5427G= (p.Gly1809=) c.5490G= (p.Gly1830=) c.5460G= (p.Gly1820=) c.5532G= (p.Gly1844=) | |
| 3 | g.38550783C>G | CA433331915 | SCN5A | c.5586G>C (p.Gly1862=) c.5589G>C (p.Gly1863=) c.5535G>C (p.Gly1845=) c.5427G>C (p.Gly1809=) c.5490G>C (p.Gly1830=) c.5460G>C (p.Gly1820=) c.5532G>C (p.Gly1844=) | |
| 3 | g.38550783C>T | CA433331919 | SCN5A | c.5586G>A (p.Gly1862=) c.5589G>A (p.Gly1863=) c.5535G>A (p.Gly1845=) c.5427G>A (p.Gly1809=) c.5490G>A (p.Gly1830=) c.5460G>A (p.Gly1820=) c.5532G>A (p.Gly1844=) | ClinVar dbSNP |
| 3 | g.38550784C>A | CA352140731 | SCN5A | c.5585G>T (p.Gly1862Val) c.5588G>T (p.Gly1863Val) c.5534G>T (p.Gly1845Val) c.5426G>T (p.Gly1809Val) c.5489G>T (p.Gly1830Val) c.5459G>T (p.Gly1820Val) c.5531G>T (p.Gly1844Val) | |
| 3 | g.38550784C>G | CA352140732 | SCN5A | c.5585G>C (p.Gly1862Ala) c.5588G>C (p.Gly1863Ala) c.5534G>C (p.Gly1845Ala) c.5426G>C (p.Gly1809Ala) c.5489G>C (p.Gly1830Ala) c.5459G>C (p.Gly1820Ala) c.5531G>C (p.Gly1844Ala) | |
| 3 | g.38550784C>T | CA352140734 | SCN5A | c.5585G>A (p.Gly1862Glu) c.5588G>A (p.Gly1863Glu) c.5534G>A (p.Gly1845Glu) c.5426G>A (p.Gly1809Glu) c.5489G>A (p.Gly1830Glu) c.5459G>A (p.Gly1820Glu) c.5531G>A (p.Gly1844Glu) | |
| 3 | g.38550785C>A | CA352140736 | SCN5A | c.5584G>T (p.Gly1862Trp) c.5587G>T (p.Gly1863Trp) c.5533G>T (p.Gly1845Trp) c.5425G>T (p.Gly1809Trp) c.5488G>T (p.Gly1830Trp) c.5458G>T (p.Gly1820Trp) c.5530G>T (p.Gly1844Trp) | |
| 3 | g.38550785C= | CA1358556604 | SCN5A | c.5584G= (p.Gly1862=) c.5587G= (p.Gly1863=) c.5533G= (p.Gly1845=) c.5425G= (p.Gly1809=) c.5488G= (p.Gly1830=) c.5458G= (p.Gly1820=) c.5530G= (p.Gly1844=) | |
| 3 | g.38550785C>G | CA352140738 | SCN5A | c.5584G>C (p.Gly1862Arg) c.5587G>C (p.Gly1863Arg) c.5533G>C (p.Gly1845Arg) c.5425G>C (p.Gly1809Arg) c.5488G>C (p.Gly1830Arg) c.5458G>C (p.Gly1820Arg) c.5530G>C (p.Gly1844Arg) | |
| 3 | g.38550785C>T | CA352140739 | SCN5A | c.5584G>A (p.Gly1862Arg) c.5587G>A (p.Gly1863Arg) c.5533G>A (p.Gly1845Arg) c.5425G>A (p.Gly1809Arg) c.5488G>A (p.Gly1830Arg) c.5458G>A (p.Gly1820Arg) c.5530G>A (p.Gly1844Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550786C>A | CA433331926 | SCN5A | c.5583G>T (p.Leu1861=) c.5586G>T (p.Leu1862=) c.5532G>T (p.Leu1844=) c.5424G>T (p.Leu1808=) c.5487G>T (p.Leu1829=) c.5457G>T (p.Leu1819=) c.5529G>T (p.Leu1843=) | |
| 3 | g.38550786C= | CA1358556611 | SCN5A | c.5583G= (p.Leu1861=) c.5586G= (p.Leu1862=) c.5532G= (p.Leu1844=) c.5424G= (p.Leu1808=) c.5487G= (p.Leu1829=) c.5457G= (p.Leu1819=) c.5529G= (p.Leu1843=) | |
| 3 | g.38550786C>G | CA433331931 | SCN5A | c.5583G>C (p.Leu1861=) c.5586G>C (p.Leu1862=) c.5532G>C (p.Leu1844=) c.5424G>C (p.Leu1808=) c.5487G>C (p.Leu1829=) c.5457G>C (p.Leu1819=) c.5529G>C (p.Leu1843=) | |
| 3 | g.38550786C>T | CA064551 | SCN5A | c.5583G>A (p.Leu1861=) c.5586G>A (p.Leu1862=) c.5532G>A (p.Leu1844=) c.5424G>A (p.Leu1808=) c.5487G>A (p.Leu1829=) c.5457G>A (p.Leu1819=) c.5529G>A (p.Leu1843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550787del | CA2665106302 | SCN5A | c.5582del (p.Leu1861ArgfsTer10) c.5585del (p.Leu1862ArgfsTer10) c.5531del (p.Leu1844ArgfsTer10) c.5423del (p.Leu1808ArgfsTer10) c.5486del (p.Leu1829ArgfsTer10) c.5456del (p.Leu1819ArgfsTer10) c.5528del (p.Leu1843ArgfsTer10) | gnomAD v4 |
| 3 | g.38550787A= | CA1358556615 | SCN5A | c.5582T= (p.Leu1861=) c.5585T= (p.Leu1862=) c.5531T= (p.Leu1844=) c.5423T= (p.Leu1808=) c.5486T= (p.Leu1829=) c.5456T= (p.Leu1819=) c.5528T= (p.Leu1843=) | |
| 3 | g.38550787A>C | CA352140743 | SCN5A | c.5582T>G (p.Leu1861Arg) c.5585T>G (p.Leu1862Arg) c.5531T>G (p.Leu1844Arg) c.5423T>G (p.Leu1808Arg) c.5486T>G (p.Leu1829Arg) c.5456T>G (p.Leu1819Arg) c.5528T>G (p.Leu1843Arg) | |
| 3 | g.38550787A>G | CA352140744 | SCN5A | c.5582T>C (p.Leu1861Pro) c.5585T>C (p.Leu1862Pro) c.5531T>C (p.Leu1844Pro) c.5423T>C (p.Leu1808Pro) c.5486T>C (p.Leu1829Pro) c.5456T>C (p.Leu1819Pro) c.5528T>C (p.Leu1843Pro) | dbSNP |
| 3 | g.38550787A>T | CA352140746 | SCN5A | c.5582T>A (p.Leu1861Gln) c.5585T>A (p.Leu1862Gln) c.5531T>A (p.Leu1844Gln) c.5423T>A (p.Leu1808Gln) c.5486T>A (p.Leu1829Gln) c.5456T>A (p.Leu1819Gln) c.5528T>A (p.Leu1843Gln) | |
| 3 | g.38550788G>A | CA433332035 | SCN5A | c.5581C>T (p.Leu1861=) c.5584C>T (p.Leu1862=) c.5530C>T (p.Leu1844=) c.5422C>T (p.Leu1808=) c.5485C>T (p.Leu1829=) c.5455C>T (p.Leu1819=) c.5527C>T (p.Leu1843=) | gnomAD v4 |
| 3 | g.38550788G>C | CA352140748 | SCN5A | c.5581C>G (p.Leu1861Val) c.5584C>G (p.Leu1862Val) c.5530C>G (p.Leu1844Val) c.5422C>G (p.Leu1808Val) c.5485C>G (p.Leu1829Val) c.5455C>G (p.Leu1819Val) c.5527C>G (p.Leu1843Val) | |
| 3 | g.38550788G>T | CA352140750 | SCN5A | c.5581C>A (p.Leu1861Met) c.5584C>A (p.Leu1862Met) c.5530C>A (p.Leu1844Met) c.5422C>A (p.Leu1808Met) c.5485C>A (p.Leu1829Met) c.5455C>A (p.Leu1819Met) c.5527C>A (p.Leu1843Met) | |
| 3 | g.38550789G>A | CA433332036 | SCN5A | c.5580C>T (p.Val1860=) c.5583C>T (p.Val1861=) c.5529C>T (p.Val1843=) c.5421C>T (p.Val1807=) c.5484C>T (p.Val1828=) c.5454C>T (p.Val1818=) c.5526C>T (p.Val1842=) | gnomAD v4 |
| 3 | g.38550789G>C | CA433332037 | SCN5A | c.5580C>G (p.Val1860=) c.5583C>G (p.Val1861=) c.5529C>G (p.Val1843=) c.5421C>G (p.Val1807=) c.5484C>G (p.Val1828=) c.5454C>G (p.Val1818=) c.5526C>G (p.Val1842=) | |
| 3 | g.38550789G>T | CA433332038 | SCN5A | c.5580C>A (p.Val1860=) c.5583C>A (p.Val1861=) c.5529C>A (p.Val1843=) c.5421C>A (p.Val1807=) c.5484C>A (p.Val1828=) c.5454C>A (p.Val1818=) c.5526C>A (p.Val1842=) | |
| 3 | g.38550790A>C | CA352140753 | SCN5A | c.5579T>G (p.Val1860Gly) c.5582T>G (p.Val1861Gly) c.5528T>G (p.Val1843Gly) c.5420T>G (p.Val1807Gly) c.5483T>G (p.Val1828Gly) c.5453T>G (p.Val1818Gly) c.5525T>G (p.Val1842Gly) | |
| 3 | g.38550790A>G | CA352140755 | SCN5A | c.5579T>C (p.Val1860Ala) c.5582T>C (p.Val1861Ala) c.5528T>C (p.Val1843Ala) c.5420T>C (p.Val1807Ala) c.5483T>C (p.Val1828Ala) c.5453T>C (p.Val1818Ala) c.5525T>C (p.Val1842Ala) | |
| 3 | g.38550790A>T | CA352140752 | SCN5A | c.5579T>A (p.Val1860Asp) c.5582T>A (p.Val1861Asp) c.5528T>A (p.Val1843Asp) c.5420T>A (p.Val1807Asp) c.5483T>A (p.Val1828Asp) c.5453T>A (p.Val1818Asp) c.5525T>A (p.Val1842Asp) | |
| 3 | g.38550791C>A | CA352140757 | SCN5A | c.5578G>T (p.Val1860Phe) c.5581G>T (p.Val1861Phe) c.5527G>T (p.Val1843Phe) c.5419G>T (p.Val1807Phe) c.5482G>T (p.Val1828Phe) c.5452G>T (p.Val1818Phe) c.5524G>T (p.Val1842Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550791C= | CA1358556618 | SCN5A | c.5578G= (p.Val1860=) c.5581G= (p.Val1861=) c.5527G= (p.Val1843=) c.5419G= (p.Val1807=) c.5482G= (p.Val1828=) c.5452G= (p.Val1818=) c.5524G= (p.Val1842=) | |
| 3 | g.38550791C>G | CA352140759 | SCN5A | c.5578G>C (p.Val1860Leu) c.5581G>C (p.Val1861Leu) c.5527G>C (p.Val1843Leu) c.5419G>C (p.Val1807Leu) c.5482G>C (p.Val1828Leu) c.5452G>C (p.Val1818Leu) c.5524G>C (p.Val1842Leu) | ClinVar dbSNP gnomAD v4 |