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.38550579C>A | CA352139924 | SCN5A | c.5790G>T (p.Gln1930His) c.5793G>T (p.Gln1931His) c.5739G>T (p.Gln1913His) c.5631G>T (p.Gln1877His) c.5694G>T (p.Gln1898His) c.5664G>T (p.Gln1888His) c.5736G>T (p.Gln1912His) | |
| 3 | g.38550579C= | CA1358556123 | SCN5A | c.5790G= (p.Gln1930=) c.5793G= (p.Gln1931=) c.5739G= (p.Gln1913=) c.5631G= (p.Gln1877=) c.5694G= (p.Gln1898=) c.5664G= (p.Gln1888=) c.5736G= (p.Gln1912=) | |
| 3 | g.38550579C>G | CA352139925 | SCN5A | c.5790G>C (p.Gln1930His) c.5793G>C (p.Gln1931His) c.5739G>C (p.Gln1913His) c.5631G>C (p.Gln1877His) c.5694G>C (p.Gln1898His) c.5664G>C (p.Gln1888His) c.5736G>C (p.Gln1912His) | |
| 3 | g.38550579C>T | CA433331807 | SCN5A | c.5790G>A (p.Gln1930=) c.5793G>A (p.Gln1931=) c.5739G>A (p.Gln1913=) c.5631G>A (p.Gln1877=) c.5694G>A (p.Gln1898=) c.5664G>A (p.Gln1888=) c.5736G>A (p.Gln1912=) | ClinVar dbSNP |
| 3 | g.38550580T>A | CA352139928 | SCN5A | c.5789A>T (p.Gln1930Leu) c.5792A>T (p.Gln1931Leu) c.5738A>T (p.Gln1913Leu) c.5630A>T (p.Gln1877Leu) c.5693A>T (p.Gln1898Leu) c.5663A>T (p.Gln1888Leu) c.5735A>T (p.Gln1912Leu) | |
| 3 | g.38550580T>C | CA352139929 | SCN5A | c.5789A>G (p.Gln1930Arg) c.5792A>G (p.Gln1931Arg) c.5738A>G (p.Gln1913Arg) c.5630A>G (p.Gln1877Arg) c.5693A>G (p.Gln1898Arg) c.5663A>G (p.Gln1888Arg) c.5735A>G (p.Gln1912Arg) | |
| 3 | g.38550580T>G | CA352139931 | SCN5A | c.5789A>C (p.Gln1930Pro) c.5792A>C (p.Gln1931Pro) c.5738A>C (p.Gln1913Pro) c.5630A>C (p.Gln1877Pro) c.5693A>C (p.Gln1898Pro) c.5663A>C (p.Gln1888Pro) c.5735A>C (p.Gln1912Pro) | |
| 3 | g.38550581G>A | CA352139933 | SCN5A | c.5788C>T (p.Gln1930Ter) c.5791C>T (p.Gln1931Ter) c.5737C>T (p.Gln1913Ter) c.5629C>T (p.Gln1877Ter) c.5692C>T (p.Gln1898Ter) c.5662C>T (p.Gln1888Ter) c.5734C>T (p.Gln1912Ter) | |
| 3 | g.38550581G>C | CA352139935 | SCN5A | c.5788C>G (p.Gln1930Glu) c.5791C>G (p.Gln1931Glu) c.5737C>G (p.Gln1913Glu) c.5629C>G (p.Gln1877Glu) c.5692C>G (p.Gln1898Glu) c.5662C>G (p.Gln1888Glu) c.5734C>G (p.Gln1912Glu) | |
| 3 | g.38550581G>T | CA352139937 | SCN5A | c.5788C>A (p.Gln1930Lys) c.5791C>A (p.Gln1931Lys) c.5737C>A (p.Gln1913Lys) c.5629C>A (p.Gln1877Lys) c.5692C>A (p.Gln1898Lys) c.5662C>A (p.Gln1888Lys) c.5734C>A (p.Gln1912Lys) | |
| 3 | g.38550582_38550587del | CA2665106300 | SCN5A | c.5783_5788del (p.Arg1928_Gln1929del) c.5786_5791del (p.Arg1929_Gln1930del) c.5732_5737del (p.Arg1911_Gln1912del) c.5624_5629del (p.Arg1875_Gln1876del) c.5687_5692del (p.Arg1896_Gln1897del) c.5657_5662del (p.Arg1886_Gln1887del) c.5729_5734del (p.Arg1910_Gln1911del) | gnomAD v4 |
| 3 | g.38550582C>A | CA352139938 | SCN5A | c.5787G>T (p.Gln1929His) c.5790G>T (p.Gln1930His) c.5736G>T (p.Gln1912His) c.5628G>T (p.Gln1876His) c.5691G>T (p.Gln1897His) c.5661G>T (p.Gln1887His) c.5733G>T (p.Gln1911His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550582C= | CA1358556126 | SCN5A | c.5787G= (p.Gln1929=) c.5790G= (p.Gln1930=) c.5736G= (p.Gln1912=) c.5628G= (p.Gln1876=) c.5691G= (p.Gln1897=) c.5661G= (p.Gln1887=) c.5733G= (p.Gln1911=) | |
| 3 | g.38550582C>G | CA352139940 | SCN5A | c.5787G>C (p.Gln1929His) c.5790G>C (p.Gln1930His) c.5736G>C (p.Gln1912His) c.5628G>C (p.Gln1876His) c.5691G>C (p.Gln1897His) c.5661G>C (p.Gln1887His) c.5733G>C (p.Gln1911His) | |
| 3 | g.38550582C>T | CA433331822 | SCN5A | c.5787G>A (p.Gln1929=) c.5790G>A (p.Gln1930=) c.5736G>A (p.Gln1912=) c.5628G>A (p.Gln1876=) c.5691G>A (p.Gln1897=) c.5661G>A (p.Gln1887=) c.5733G>A (p.Gln1911=) | |
| 3 | g.38550583T>A | CA352139942 | SCN5A | c.5786A>T (p.Gln1929Leu) c.5789A>T (p.Gln1930Leu) c.5735A>T (p.Gln1912Leu) c.5627A>T (p.Gln1876Leu) c.5690A>T (p.Gln1897Leu) c.5660A>T (p.Gln1887Leu) c.5732A>T (p.Gln1911Leu) | |
| 3 | g.38550583T>C | CA352139944 | SCN5A | c.5786A>G (p.Gln1929Arg) c.5789A>G (p.Gln1930Arg) c.5735A>G (p.Gln1912Arg) c.5627A>G (p.Gln1876Arg) c.5690A>G (p.Gln1897Arg) c.5660A>G (p.Gln1887Arg) c.5732A>G (p.Gln1911Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550583T>G | CA352139946 | SCN5A | c.5786A>C (p.Gln1929Pro) c.5789A>C (p.Gln1930Pro) c.5735A>C (p.Gln1912Pro) c.5627A>C (p.Gln1876Pro) c.5690A>C (p.Gln1897Pro) c.5660A>C (p.Gln1887Pro) c.5732A>C (p.Gln1911Pro) | |
| 3 | g.38550583T= | CA1358556130 | SCN5A | c.5786A= (p.Gln1929=) c.5789A= (p.Gln1930=) c.5735A= (p.Gln1912=) c.5627A= (p.Gln1876=) c.5690A= (p.Gln1897=) c.5660A= (p.Gln1887=) c.5732A= (p.Gln1911=) | |
| 3 | g.38550584G>A | CA352139951 | SCN5A | c.5785C>T (p.Gln1929Ter) c.5788C>T (p.Gln1930Ter) c.5734C>T (p.Gln1912Ter) c.5626C>T (p.Gln1876Ter) c.5689C>T (p.Gln1897Ter) c.5659C>T (p.Gln1887Ter) c.5731C>T (p.Gln1911Ter) | dbSNP |
| 3 | g.38550584G>C | CA352139950 | SCN5A | c.5785C>G (p.Gln1929Glu) c.5788C>G (p.Gln1930Glu) c.5734C>G (p.Gln1912Glu) c.5626C>G (p.Gln1876Glu) c.5689C>G (p.Gln1897Glu) c.5659C>G (p.Gln1887Glu) c.5731C>G (p.Gln1911Glu) | |
| 3 | g.38550584G= | CA1358556135 | SCN5A | c.5785C= (p.Gln1929=) c.5788C= (p.Gln1930=) c.5734C= (p.Gln1912=) c.5626C= (p.Gln1876=) c.5689C= (p.Gln1897=) c.5659C= (p.Gln1887=) c.5731C= (p.Gln1911=) | |
| 3 | g.38550584G>T | CA352139947 | SCN5A | c.5785C>A (p.Gln1929Lys) c.5788C>A (p.Gln1930Lys) c.5734C>A (p.Gln1912Lys) c.5626C>A (p.Gln1876Lys) c.5689C>A (p.Gln1897Lys) c.5659C>A (p.Gln1887Lys) c.5731C>A (p.Gln1911Lys) | |
| 3 | g.38550585A= | CA1358556137 | SCN5A | c.5784T= (p.Arg1928=) c.5787T= (p.Arg1929=) c.5733T= (p.Arg1911=) c.5625T= (p.Arg1875=) c.5688T= (p.Arg1896=) c.5658T= (p.Arg1886=) c.5730T= (p.Arg1910=) | |
| 3 | g.38550585A>C | CA433331834 | SCN5A | c.5784T>G (p.Arg1928=) c.5787T>G (p.Arg1929=) c.5733T>G (p.Arg1911=) c.5625T>G (p.Arg1875=) c.5688T>G (p.Arg1896=) c.5658T>G (p.Arg1886=) c.5730T>G (p.Arg1910=) | dbSNP |
| 3 | g.38550585A>G | CA433331838 | SCN5A | c.5784T>C (p.Arg1928=) c.5787T>C (p.Arg1929=) c.5733T>C (p.Arg1911=) c.5625T>C (p.Arg1875=) c.5688T>C (p.Arg1896=) c.5658T>C (p.Arg1886=) c.5730T>C (p.Arg1910=) | |
| 3 | g.38550585A>T | CA433331835 | SCN5A | c.5784T>A (p.Arg1928=) c.5787T>A (p.Arg1929=) c.5733T>A (p.Arg1911=) c.5625T>A (p.Arg1875=) c.5688T>A (p.Arg1896=) c.5658T>A (p.Arg1886=) c.5730T>A (p.Arg1910=) | |
| 3 | g.38550586C>A | CA352139952 | SCN5A | c.5783G>T (p.Arg1928Leu) c.5786G>T (p.Arg1929Leu) c.5732G>T (p.Arg1911Leu) c.5624G>T (p.Arg1875Leu) c.5687G>T (p.Arg1896Leu) c.5657G>T (p.Arg1886Leu) c.5729G>T (p.Arg1910Leu) | |
| 3 | g.38550586C= | CA1358556142 | SCN5A | c.5783G= (p.Arg1928=) c.5786G= (p.Arg1929=) c.5732G= (p.Arg1911=) c.5624G= (p.Arg1875=) c.5687G= (p.Arg1896=) c.5657G= (p.Arg1886=) c.5729G= (p.Arg1910=) | |
| 3 | g.38550586C>G | CA352139954 | SCN5A | c.5783G>C (p.Arg1928Pro) c.5786G>C (p.Arg1929Pro) c.5732G>C (p.Arg1911Pro) c.5624G>C (p.Arg1875Pro) c.5687G>C (p.Arg1896Pro) c.5657G>C (p.Arg1886Pro) c.5729G>C (p.Arg1910Pro) | |
| 3 | g.38550586C>T | CA019464 | SCN5A | c.5783G>A (p.Arg1928His) c.5786G>A (p.Arg1929His) c.5732G>A (p.Arg1911His) c.5624G>A (p.Arg1875His) c.5687G>A (p.Arg1896His) c.5657G>A (p.Arg1886His) c.5729G>A (p.Arg1910His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550587G>A | CA064797 | SCN5A | c.5782C>T (p.Arg1928Cys) c.5785C>T (p.Arg1929Cys) c.5731C>T (p.Arg1911Cys) c.5623C>T (p.Arg1875Cys) c.5686C>T (p.Arg1896Cys) c.5656C>T (p.Arg1886Cys) c.5728C>T (p.Arg1910Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550587G>C | CA352139955 | SCN5A | c.5782C>G (p.Arg1928Gly) c.5785C>G (p.Arg1929Gly) c.5731C>G (p.Arg1911Gly) c.5623C>G (p.Arg1875Gly) c.5686C>G (p.Arg1896Gly) c.5656C>G (p.Arg1886Gly) c.5728C>G (p.Arg1910Gly) | gnomAD v4 |
| 3 | g.38550587G= | CA1358556151 | SCN5A | c.5782C= (p.Arg1928=) c.5785C= (p.Arg1929=) c.5731C= (p.Arg1911=) c.5623C= (p.Arg1875=) c.5686C= (p.Arg1896=) c.5656C= (p.Arg1886=) c.5728C= (p.Arg1910=) | |
| 3 | g.38550587G>T | CA352139956 | SCN5A | c.5782C>A (p.Arg1928Ser) c.5785C>A (p.Arg1929Ser) c.5731C>A (p.Arg1911Ser) c.5623C>A (p.Arg1875Ser) c.5686C>A (p.Arg1896Ser) c.5656C>A (p.Arg1886Ser) c.5728C>A (p.Arg1910Ser) | |
| 3 | g.38550588G>A | CA433331856 | SCN5A | c.5781C>T (p.Phe1927=) c.5784C>T (p.Phe1928=) c.5730C>T (p.Phe1910=) c.5622C>T (p.Phe1874=) c.5685C>T (p.Phe1895=) c.5655C>T (p.Phe1885=) c.5727C>T (p.Phe1909=) | |
| 3 | g.38550588G>C | CA352139959 | SCN5A | c.5781C>G (p.Phe1927Leu) c.5784C>G (p.Phe1928Leu) c.5730C>G (p.Phe1910Leu) c.5622C>G (p.Phe1874Leu) c.5685C>G (p.Phe1895Leu) c.5655C>G (p.Phe1885Leu) c.5727C>G (p.Phe1909Leu) | |
| 3 | g.38550588G>T | CA352139960 | SCN5A | c.5781C>A (p.Phe1927Leu) c.5784C>A (p.Phe1928Leu) c.5730C>A (p.Phe1910Leu) c.5622C>A (p.Phe1874Leu) c.5685C>A (p.Phe1895Leu) c.5655C>A (p.Phe1885Leu) c.5727C>A (p.Phe1909Leu) | |
| 3 | g.38550589A= | CA1358556155 | SCN5A | c.5780T= (p.Phe1927=) c.5783T= (p.Phe1928=) c.5729T= (p.Phe1910=) c.5621T= (p.Phe1874=) c.5684T= (p.Phe1895=) c.5654T= (p.Phe1885=) c.5726T= (p.Phe1909=) | |
| 3 | g.38550589A>C | CA16611454 | SCN5A | c.5780T>G (p.Phe1927Cys) c.5783T>G (p.Phe1928Cys) c.5729T>G (p.Phe1910Cys) c.5621T>G (p.Phe1874Cys) c.5684T>G (p.Phe1895Cys) c.5654T>G (p.Phe1885Cys) c.5726T>G (p.Phe1909Cys) | ClinVar dbSNP |
| 3 | g.38550589A>G | CA352139962 | SCN5A | c.5780T>C (p.Phe1927Ser) c.5783T>C (p.Phe1928Ser) c.5729T>C (p.Phe1910Ser) c.5621T>C (p.Phe1874Ser) c.5684T>C (p.Phe1895Ser) c.5654T>C (p.Phe1885Ser) c.5726T>C (p.Phe1909Ser) | |
| 3 | g.38550589A>T | CA352139964 | SCN5A | c.5780T>A (p.Phe1927Tyr) c.5783T>A (p.Phe1928Tyr) c.5729T>A (p.Phe1910Tyr) c.5621T>A (p.Phe1874Tyr) c.5684T>A (p.Phe1895Tyr) c.5654T>A (p.Phe1885Tyr) c.5726T>A (p.Phe1909Tyr) | |
| 3 | g.38550590A= | CA1358556159 | SCN5A | c.5779T= (p.Phe1927=) c.5782T= (p.Phe1928=) c.5728T= (p.Phe1910=) c.5620T= (p.Phe1874=) c.5683T= (p.Phe1895=) c.5653T= (p.Phe1885=) c.5725T= (p.Phe1909=) | |
| 3 | g.38550590A>C | CA352139966 | SCN5A | c.5779T>G (p.Phe1927Val) c.5782T>G (p.Phe1928Val) c.5728T>G (p.Phe1910Val) c.5620T>G (p.Phe1874Val) c.5683T>G (p.Phe1895Val) c.5653T>G (p.Phe1885Val) c.5725T>G (p.Phe1909Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550590A>G | CA352139968 | SCN5A | c.5779T>C (p.Phe1927Leu) c.5782T>C (p.Phe1928Leu) c.5728T>C (p.Phe1910Leu) c.5620T>C (p.Phe1874Leu) c.5683T>C (p.Phe1895Leu) c.5653T>C (p.Phe1885Leu) c.5725T>C (p.Phe1909Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550590A>T | CA352139969 | SCN5A | c.5779T>A (p.Phe1927Ile) c.5782T>A (p.Phe1928Ile) c.5728T>A (p.Phe1910Ile) c.5620T>A (p.Phe1874Ile) c.5683T>A (p.Phe1895Ile) c.5653T>A (p.Phe1885Ile) c.5725T>A (p.Phe1909Ile) | |
| 3 | g.38550591G>A | CA72937801 | SCN5A | c.5778C>T (p.Leu1926=) c.5781C>T (p.Leu1927=) c.5727C>T (p.Leu1909=) c.5619C>T (p.Leu1873=) c.5682C>T (p.Leu1894=) c.5652C>T (p.Leu1884=) c.5724C>T (p.Leu1908=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550591G>C | CA433331859 | SCN5A | c.5778C>G (p.Leu1926=) c.5781C>G (p.Leu1927=) c.5727C>G (p.Leu1909=) c.5619C>G (p.Leu1873=) c.5682C>G (p.Leu1894=) c.5652C>G (p.Leu1884=) c.5724C>G (p.Leu1908=) | |
| 3 | g.38550591G= | CA1358556161 | SCN5A | c.5778C= (p.Leu1926=) c.5781C= (p.Leu1927=) c.5727C= (p.Leu1909=) c.5619C= (p.Leu1873=) c.5682C= (p.Leu1894=) c.5652C= (p.Leu1884=) c.5724C= (p.Leu1908=) | |
| 3 | g.38550591G>T | CA433331862 | SCN5A | c.5778C>A (p.Leu1926=) c.5781C>A (p.Leu1927=) c.5727C>A (p.Leu1909=) c.5619C>A (p.Leu1873=) c.5682C>A (p.Leu1894=) c.5652C>A (p.Leu1884=) c.5724C>A (p.Leu1908=) |