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.38550679C>A | CA352140307 | SCN5A | c.5690G>T (p.Arg1897Leu) c.5693G>T (p.Arg1898Leu) c.5639G>T (p.Arg1880Leu) c.5531G>T (p.Arg1844Leu) c.5594G>T (p.Arg1865Leu) c.5564G>T (p.Arg1855Leu) c.5636G>T (p.Arg1879Leu) | |
| 3 | g.38550679C= | CA1358556389 | SCN5A | c.5690G= (p.Arg1897=) c.5693G= (p.Arg1898=) c.5639G= (p.Arg1880=) c.5531G= (p.Arg1844=) c.5594G= (p.Arg1865=) c.5564G= (p.Arg1855=) c.5636G= (p.Arg1879=) | |
| 3 | g.38550679C>G | CA352140308 | SCN5A | c.5690G>C (p.Arg1897Pro) c.5693G>C (p.Arg1898Pro) c.5639G>C (p.Arg1880Pro) c.5531G>C (p.Arg1844Pro) c.5594G>C (p.Arg1865Pro) c.5564G>C (p.Arg1855Pro) c.5636G>C (p.Arg1879Pro) | COSMIC |
| 3 | g.38550679C>T | CA064651 | SCN5A | c.5690G>A (p.Arg1897His) c.5693G>A (p.Arg1898His) c.5639G>A (p.Arg1880His) c.5531G>A (p.Arg1844His) c.5594G>A (p.Arg1865His) c.5564G>A (p.Arg1855His) c.5636G>A (p.Arg1879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550680G>A | CA064645 | SCN5A | c.5689C>T (p.Arg1897Cys) c.5692C>T (p.Arg1898Cys) c.5638C>T (p.Arg1880Cys) c.5530C>T (p.Arg1844Cys) c.5593C>T (p.Arg1865Cys) c.5563C>T (p.Arg1855Cys) c.5635C>T (p.Arg1879Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550680G>C | CA352140312 | SCN5A | c.5689C>G (p.Arg1897Gly) c.5692C>G (p.Arg1898Gly) c.5638C>G (p.Arg1880Gly) c.5530C>G (p.Arg1844Gly) c.5593C>G (p.Arg1865Gly) c.5563C>G (p.Arg1855Gly) c.5635C>G (p.Arg1879Gly) | |
| 3 | g.38550680G= | CA1358556398 | SCN5A | c.5689C= (p.Arg1897=) c.5692C= (p.Arg1898=) c.5638C= (p.Arg1880=) c.5530C= (p.Arg1844=) c.5593C= (p.Arg1865=) c.5563C= (p.Arg1855=) c.5635C= (p.Arg1879=) | |
| 3 | g.38550680G>T | CA352140314 | SCN5A | c.5689C>A (p.Arg1897Ser) c.5692C>A (p.Arg1898Ser) c.5638C>A (p.Arg1880Ser) c.5530C>A (p.Arg1844Ser) c.5593C>A (p.Arg1865Ser) c.5563C>A (p.Arg1855Ser) c.5635C>A (p.Arg1879Ser) | |
| 3 | g.38550681C>A | CA433331609 | SCN5A | c.5688G>T (p.Arg1896=) c.5691G>T (p.Arg1897=) c.5637G>T (p.Arg1879=) c.5529G>T (p.Arg1843=) c.5592G>T (p.Arg1864=) c.5562G>T (p.Arg1854=) c.5634G>T (p.Arg1878=) | |
| 3 | g.38550681C>G | CA433331612 | SCN5A | c.5688G>C (p.Arg1896=) c.5691G>C (p.Arg1897=) c.5637G>C (p.Arg1879=) c.5529G>C (p.Arg1843=) c.5592G>C (p.Arg1864=) c.5562G>C (p.Arg1854=) c.5634G>C (p.Arg1878=) | gnomAD v4 |
| 3 | g.38550681C>T | CA433331613 | SCN5A | c.5688G>A (p.Arg1896=) c.5691G>A (p.Arg1897=) c.5637G>A (p.Arg1879=) c.5529G>A (p.Arg1843=) c.5592G>A (p.Arg1864=) c.5562G>A (p.Arg1854=) c.5634G>A (p.Arg1878=) | |
| 3 | g.38550682C>A | CA352140316 | SCN5A | c.5687G>T (p.Arg1896Leu) c.5690G>T (p.Arg1897Leu) c.5636G>T (p.Arg1879Leu) c.5528G>T (p.Arg1843Leu) c.5591G>T (p.Arg1864Leu) c.5561G>T (p.Arg1854Leu) c.5633G>T (p.Arg1878Leu) | |
| 3 | g.38550682C= | CA1358556403 | SCN5A | c.5687G= (p.Arg1896=) c.5690G= (p.Arg1897=) c.5636G= (p.Arg1879=) c.5528G= (p.Arg1843=) c.5591G= (p.Arg1864=) c.5561G= (p.Arg1854=) c.5633G= (p.Arg1878=) | |
| 3 | g.38550682C>G | CA352140318 | SCN5A | c.5687G>C (p.Arg1896Pro) c.5690G>C (p.Arg1897Pro) c.5636G>C (p.Arg1879Pro) c.5528G>C (p.Arg1843Pro) c.5591G>C (p.Arg1864Pro) c.5561G>C (p.Arg1854Pro) c.5633G>C (p.Arg1878Pro) | |
| 3 | g.38550682C>T | CA064637 | SCN5A | c.5687G>A (p.Arg1896Gln) c.5690G>A (p.Arg1897Gln) c.5636G>A (p.Arg1879Gln) c.5528G>A (p.Arg1843Gln) c.5591G>A (p.Arg1864Gln) c.5561G>A (p.Arg1854Gln) c.5633G>A (p.Arg1878Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550683G>A | CA353758 | SCN5A | c.5686C>T (p.Arg1896Trp) c.5689C>T (p.Arg1897Trp) c.5635C>T (p.Arg1879Trp) c.5527C>T (p.Arg1843Trp) c.5590C>T (p.Arg1864Trp) c.5560C>T (p.Arg1854Trp) c.5632C>T (p.Arg1878Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550683G>C | CA352140321 | SCN5A | c.5686C>G (p.Arg1896Gly) c.5689C>G (p.Arg1897Gly) c.5635C>G (p.Arg1879Gly) c.5527C>G (p.Arg1843Gly) c.5590C>G (p.Arg1864Gly) c.5560C>G (p.Arg1854Gly) c.5632C>G (p.Arg1878Gly) | |
| 3 | g.38550683G= | CA1358556411 | SCN5A | c.5686C= (p.Arg1896=) c.5689C= (p.Arg1897=) c.5635C= (p.Arg1879=) c.5527C= (p.Arg1843=) c.5590C= (p.Arg1864=) c.5560C= (p.Arg1854=) c.5632C= (p.Arg1878=) | |
| 3 | g.38550683G>T | CA433331617 | SCN5A | c.5686C>A (p.Arg1896=) c.5689C>A (p.Arg1897=) c.5635C>A (p.Arg1879=) c.5527C>A (p.Arg1843=) c.5590C>A (p.Arg1864=) c.5560C>A (p.Arg1854=) c.5632C>A (p.Arg1878=) | gnomAD v4 |
| 3 | g.38550683_38550685delinsGGA | CA1358556416 | SCN5A | c.5684_5686delinsTCC (p.Leu1895=) c.5687_5689delinsTCC (p.Leu1896=) c.5633_5635delinsTCC (p.Leu1878=) c.5525_5527delinsTCC (p.Leu1842=) c.5588_5590delinsTCC (p.Leu1863=) c.5558_5560delinsTCC (p.Leu1853=) c.5630_5632delinsTCC (p.Leu1877=) | |
| 3 | g.38550684G>A | CA433331618 | SCN5A | c.5685C>T (p.Leu1895=) c.5688C>T (p.Leu1896=) c.5634C>T (p.Leu1878=) c.5526C>T (p.Leu1842=) c.5589C>T (p.Leu1863=) c.5559C>T (p.Leu1853=) c.5631C>T (p.Leu1877=) | |
| 3 | g.38550684G>C | CA433331619 | SCN5A | c.5685C>G (p.Leu1895=) c.5688C>G (p.Leu1896=) c.5634C>G (p.Leu1878=) c.5526C>G (p.Leu1842=) c.5589C>G (p.Leu1863=) c.5559C>G (p.Leu1853=) c.5631C>G (p.Leu1877=) | dbSNP |
| 3 | g.38550684G= | CA1358556419 | SCN5A | c.5685C= (p.Leu1895=) c.5688C= (p.Leu1896=) c.5634C= (p.Leu1878=) c.5526C= (p.Leu1842=) c.5589C= (p.Leu1863=) c.5559C= (p.Leu1853=) c.5631C= (p.Leu1877=) | |
| 3 | g.38550684G>T | CA433331620 | SCN5A | c.5685C>A (p.Leu1895=) c.5688C>A (p.Leu1896=) c.5634C>A (p.Leu1878=) c.5526C>A (p.Leu1842=) c.5589C>A (p.Leu1863=) c.5559C>A (p.Leu1853=) c.5631C>A (p.Leu1877=) | |
| 3 | g.38550685_38550686del | CA2319534 | SCN5A | c.5684_5685del (p.Leu1895ProfsTer?) c.5687_5688del (p.Leu1896ProfsTer?) c.5633_5634del (p.Leu1878ProfsTer?) c.5525_5526del (p.Leu1842ProfsTer?) c.5588_5589del (p.Leu1863ProfsTer?) c.5558_5559del (p.Leu1853ProfsTer?) c.5630_5631del (p.Leu1877ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550685A= | CA1358556422 | SCN5A | c.5684T= (p.Leu1895=) c.5687T= (p.Leu1896=) c.5633T= (p.Leu1878=) c.5525T= (p.Leu1842=) c.5588T= (p.Leu1863=) c.5558T= (p.Leu1853=) c.5630T= (p.Leu1877=) | |
| 3 | g.38550685A>C | CA352140326 | SCN5A | c.5684T>G (p.Leu1895Arg) c.5687T>G (p.Leu1896Arg) c.5633T>G (p.Leu1878Arg) c.5525T>G (p.Leu1842Arg) c.5588T>G (p.Leu1863Arg) c.5558T>G (p.Leu1853Arg) c.5630T>G (p.Leu1877Arg) | |
| 3 | g.38550685A>G | CA064624 | SCN5A | c.5684T>C (p.Leu1895Pro) c.5687T>C (p.Leu1896Pro) c.5633T>C (p.Leu1878Pro) c.5525T>C (p.Leu1842Pro) c.5588T>C (p.Leu1863Pro) c.5558T>C (p.Leu1853Pro) c.5630T>C (p.Leu1877Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550685A>T | CA352140323 | SCN5A | c.5684T>A (p.Leu1895His) c.5687T>A (p.Leu1896His) c.5633T>A (p.Leu1878His) c.5525T>A (p.Leu1842His) c.5588T>A (p.Leu1863His) c.5558T>A (p.Leu1853His) c.5630T>A (p.Leu1877His) | |
| 3 | g.38550686G>A | CA352140328 | SCN5A | c.5683C>T (p.Leu1895Phe) c.5686C>T (p.Leu1896Phe) c.5632C>T (p.Leu1878Phe) c.5524C>T (p.Leu1842Phe) c.5587C>T (p.Leu1863Phe) c.5557C>T (p.Leu1853Phe) c.5629C>T (p.Leu1877Phe) | ClinVar dbSNP |
| 3 | g.38550686G>C | CA352140330 | SCN5A | c.5683C>G (p.Leu1895Val) c.5686C>G (p.Leu1896Val) c.5632C>G (p.Leu1878Val) c.5524C>G (p.Leu1842Val) c.5587C>G (p.Leu1863Val) c.5557C>G (p.Leu1853Val) c.5629C>G (p.Leu1877Val) | ClinVar |
| 3 | g.38550686G= | CA1358556424 | SCN5A | c.5683C= (p.Leu1895=) c.5686C= (p.Leu1896=) c.5632C= (p.Leu1878=) c.5524C= (p.Leu1842=) c.5587C= (p.Leu1863=) c.5557C= (p.Leu1853=) c.5629C= (p.Leu1877=) | |
| 3 | g.38550686G>T | CA72937844 | SCN5A | c.5683C>A (p.Leu1895Ile) c.5686C>A (p.Leu1896Ile) c.5632C>A (p.Leu1878Ile) c.5524C>A (p.Leu1842Ile) c.5587C>A (p.Leu1863Ile) c.5557C>A (p.Leu1853Ile) c.5629C>A (p.Leu1877Ile) | dbSNP |
| 3 | g.38550687T>A | CA433331626 | SCN5A | c.5682A>T (p.Thr1894=) c.5685A>T (p.Thr1895=) c.5631A>T (p.Thr1877=) c.5523A>T (p.Thr1841=) c.5586A>T (p.Thr1862=) c.5556A>T (p.Thr1852=) c.5628A>T (p.Thr1876=) | |
| 3 | g.38550687T>C | CA433331627 | SCN5A | c.5682A>G (p.Thr1894=) c.5685A>G (p.Thr1895=) c.5631A>G (p.Thr1877=) c.5523A>G (p.Thr1841=) c.5586A>G (p.Thr1862=) c.5556A>G (p.Thr1852=) c.5628A>G (p.Thr1876=) | gnomAD v4 |
| 3 | g.38550687T>G | CA433331629 | SCN5A | c.5682A>C (p.Thr1894=) c.5685A>C (p.Thr1895=) c.5631A>C (p.Thr1877=) c.5523A>C (p.Thr1841=) c.5586A>C (p.Thr1862=) c.5556A>C (p.Thr1852=) c.5628A>C (p.Thr1876=) | |
| 3 | g.38550688G>A | CA064606 | SCN5A | c.5681C>T (p.Thr1894Ile) c.5684C>T (p.Thr1895Ile) c.5630C>T (p.Thr1877Ile) c.5522C>T (p.Thr1841Ile) c.5585C>T (p.Thr1862Ile) c.5555C>T (p.Thr1852Ile) c.5627C>T (p.Thr1876Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550688G>C | CA352140334 | SCN5A | c.5681C>G (p.Thr1894Arg) c.5684C>G (p.Thr1895Arg) c.5630C>G (p.Thr1877Arg) c.5522C>G (p.Thr1841Arg) c.5585C>G (p.Thr1862Arg) c.5555C>G (p.Thr1852Arg) c.5627C>G (p.Thr1876Arg) | |
| 3 | g.38550688G= | CA1358556426 | SCN5A | c.5681C= (p.Thr1894=) c.5684C= (p.Thr1895=) c.5630C= (p.Thr1877=) c.5522C= (p.Thr1841=) c.5585C= (p.Thr1862=) c.5555C= (p.Thr1852=) c.5627C= (p.Thr1876=) | |
| 3 | g.38550688G>T | CA352140335 | SCN5A | c.5681C>A (p.Thr1894Lys) c.5684C>A (p.Thr1895Lys) c.5630C>A (p.Thr1877Lys) c.5522C>A (p.Thr1841Lys) c.5585C>A (p.Thr1862Lys) c.5555C>A (p.Thr1852Lys) c.5627C>A (p.Thr1876Lys) | |
| 3 | g.38550689T>A | CA352140338 | SCN5A | c.5680A>T (p.Thr1894Ser) c.5683A>T (p.Thr1895Ser) c.5629A>T (p.Thr1877Ser) c.5521A>T (p.Thr1841Ser) c.5584A>T (p.Thr1862Ser) c.5554A>T (p.Thr1852Ser) c.5626A>T (p.Thr1876Ser) | |
| 3 | g.38550689T>C | CA352140340 | SCN5A | c.5680A>G (p.Thr1894Ala) c.5683A>G (p.Thr1895Ala) c.5629A>G (p.Thr1877Ala) c.5521A>G (p.Thr1841Ala) c.5584A>G (p.Thr1862Ala) c.5554A>G (p.Thr1852Ala) c.5626A>G (p.Thr1876Ala) | |
| 3 | g.38550689T>G | CA352140341 | SCN5A | c.5680A>C (p.Thr1894Pro) c.5683A>C (p.Thr1895Pro) c.5629A>C (p.Thr1877Pro) c.5521A>C (p.Thr1841Pro) c.5584A>C (p.Thr1862Pro) c.5554A>C (p.Thr1852Pro) c.5626A>C (p.Thr1876Pro) | |
| 3 | g.38550690G>A | CA72937846 | SCN5A | c.5679C>T (p.Thr1893=) c.5682C>T (p.Thr1894=) c.5628C>T (p.Thr1876=) c.5520C>T (p.Thr1840=) c.5583C>T (p.Thr1861=) c.5553C>T (p.Thr1851=) c.5625C>T (p.Thr1875=) | dbSNP gnomAD v4 |
| 3 | g.38550690G>C | CA433331633 | SCN5A | c.5679C>G (p.Thr1893=) c.5682C>G (p.Thr1894=) c.5628C>G (p.Thr1876=) c.5520C>G (p.Thr1840=) c.5583C>G (p.Thr1861=) c.5553C>G (p.Thr1851=) c.5625C>G (p.Thr1875=) | |
| 3 | g.38550690G= | CA1358556432 | SCN5A | c.5679C= (p.Thr1893=) c.5682C= (p.Thr1894=) c.5628C= (p.Thr1876=) c.5520C= (p.Thr1840=) c.5583C= (p.Thr1861=) c.5553C= (p.Thr1851=) c.5625C= (p.Thr1875=) | |
| 3 | g.38550690G>T | CA433331634 | SCN5A | c.5679C>A (p.Thr1893=) c.5682C>A (p.Thr1894=) c.5628C>A (p.Thr1876=) c.5520C>A (p.Thr1840=) c.5583C>A (p.Thr1861=) c.5553C>A (p.Thr1851=) c.5625C>A (p.Thr1875=) | gnomAD v4 |
| 3 | g.38550691G>A | CA352140343 | SCN5A | c.5678C>T (p.Thr1893Ile) c.5681C>T (p.Thr1894Ile) c.5627C>T (p.Thr1876Ile) c.5519C>T (p.Thr1840Ile) c.5582C>T (p.Thr1861Ile) c.5552C>T (p.Thr1851Ile) c.5624C>T (p.Thr1875Ile) | dbSNP |
| 3 | g.38550691G>C | CA352140344 | SCN5A | c.5678C>G (p.Thr1893Ser) c.5681C>G (p.Thr1894Ser) c.5627C>G (p.Thr1876Ser) c.5519C>G (p.Thr1840Ser) c.5582C>G (p.Thr1861Ser) c.5552C>G (p.Thr1851Ser) c.5624C>G (p.Thr1875Ser) | |
| 3 | g.38550691G= | CA1358556435 | SCN5A | c.5678C= (p.Thr1893=) c.5681C= (p.Thr1894=) c.5627C= (p.Thr1876=) c.5519C= (p.Thr1840=) c.5582C= (p.Thr1861=) c.5552C= (p.Thr1851=) c.5624C= (p.Thr1875=) |