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.38550976T>A | CA352141205 | SCN5A | c.5393A>T (p.Glu1798Val) c.5396A>T (p.Glu1799Val) c.5342A>T (p.Glu1781Val) c.5234A>T (p.Glu1745Val) c.5297A>T (p.Glu1766Val) c.5267A>T (p.Glu1756Val) c.5339A>T (p.Glu1780Val) | |
| 3 | g.38550976T>C | CA352141203 | SCN5A | c.5393A>G (p.Glu1798Gly) c.5396A>G (p.Glu1799Gly) c.5342A>G (p.Glu1781Gly) c.5234A>G (p.Glu1745Gly) c.5297A>G (p.Glu1766Gly) c.5267A>G (p.Glu1756Gly) c.5339A>G (p.Glu1780Gly) | ClinVar dbSNP |
| 3 | g.38550976T>G | CA352141204 | SCN5A | c.5393A>C (p.Glu1798Ala) c.5396A>C (p.Glu1799Ala) c.5342A>C (p.Glu1781Ala) c.5234A>C (p.Glu1745Ala) c.5297A>C (p.Glu1766Ala) c.5267A>C (p.Glu1756Ala) c.5339A>C (p.Glu1780Ala) | |
| 3 | g.38550977C>A | CA352141206 | SCN5A | c.5392G>T (p.Glu1798Ter) c.5395G>T (p.Glu1799Ter) c.5341G>T (p.Glu1781Ter) c.5233G>T (p.Glu1745Ter) c.5296G>T (p.Glu1766Ter) c.5266G>T (p.Glu1756Ter) c.5338G>T (p.Glu1780Ter) | dbSNP |
| 3 | g.38550977C= | CA1358557046 | SCN5A | c.5392G= (p.Glu1798=) c.5395G= (p.Glu1799=) c.5341G= (p.Glu1781=) c.5233G= (p.Glu1745=) c.5296G= (p.Glu1766=) c.5266G= (p.Glu1756=) c.5338G= (p.Glu1780=) | |
| 3 | g.38550977C>G | CA352141207 | SCN5A | c.5392G>C (p.Glu1798Gln) c.5395G>C (p.Glu1799Gln) c.5341G>C (p.Glu1781Gln) c.5233G>C (p.Glu1745Gln) c.5296G>C (p.Glu1766Gln) c.5266G>C (p.Glu1756Gln) c.5338G>C (p.Glu1780Gln) | |
| 3 | g.38550977C>T | CA352141208 | SCN5A | c.5392G>A (p.Glu1798Lys) c.5395G>A (p.Glu1799Lys) c.5341G>A (p.Glu1781Lys) c.5233G>A (p.Glu1745Lys) c.5296G>A (p.Glu1766Lys) c.5266G>A (p.Glu1756Lys) c.5338G>A (p.Glu1780Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38550978C>A | CA352141209 | SCN5A | c.5391G>T (p.Trp1797Cys) c.5394G>T (p.Trp1798Cys) c.5340G>T (p.Trp1780Cys) c.5232G>T (p.Trp1744Cys) c.5295G>T (p.Trp1765Cys) c.5265G>T (p.Trp1755Cys) c.5337G>T (p.Trp1779Cys) | |
| 3 | g.38550978C>G | CA352141210 | SCN5A | c.5391G>C (p.Trp1797Cys) c.5394G>C (p.Trp1798Cys) c.5340G>C (p.Trp1780Cys) c.5232G>C (p.Trp1744Cys) c.5295G>C (p.Trp1765Cys) c.5265G>C (p.Trp1755Cys) c.5337G>C (p.Trp1779Cys) | |
| 3 | g.38550978C>T | CA352141211 | SCN5A | c.5391G>A (p.Trp1797Ter) c.5394G>A (p.Trp1798Ter) c.5340G>A (p.Trp1780Ter) c.5232G>A (p.Trp1744Ter) c.5295G>A (p.Trp1765Ter) c.5265G>A (p.Trp1755Ter) c.5337G>A (p.Trp1779Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38550979C>A | CA352141212 | SCN5A | c.5390G>T (p.Trp1797Leu) c.5393G>T (p.Trp1798Leu) c.5339G>T (p.Trp1780Leu) c.5231G>T (p.Trp1744Leu) c.5294G>T (p.Trp1765Leu) c.5264G>T (p.Trp1755Leu) c.5336G>T (p.Trp1779Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38550979C= | CA1358557049 | SCN5A | c.5390G= (p.Trp1797=) c.5393G= (p.Trp1798=) c.5339G= (p.Trp1780=) c.5231G= (p.Trp1744=) c.5294G= (p.Trp1765=) c.5264G= (p.Trp1755=) c.5336G= (p.Trp1779=) | |
| 3 | g.38550979C>G | CA352141213 | SCN5A | c.5390G>C (p.Trp1797Ser) c.5393G>C (p.Trp1798Ser) c.5339G>C (p.Trp1780Ser) c.5231G>C (p.Trp1744Ser) c.5294G>C (p.Trp1765Ser) c.5264G>C (p.Trp1755Ser) c.5336G>C (p.Trp1779Ser) | |
| 3 | g.38550979C>T | CA72937936 | SCN5A | c.5390G>A (p.Trp1797Ter) c.5393G>A (p.Trp1798Ter) c.5339G>A (p.Trp1780Ter) c.5231G>A (p.Trp1744Ter) c.5294G>A (p.Trp1765Ter) c.5264G>A (p.Trp1755Ter) c.5336G>A (p.Trp1779Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550980A>C | CA352141214 | SCN5A | c.5389T>G (p.Trp1797Gly) c.5392T>G (p.Trp1798Gly) c.5338T>G (p.Trp1780Gly) c.5230T>G (p.Trp1744Gly) c.5293T>G (p.Trp1765Gly) c.5263T>G (p.Trp1755Gly) c.5335T>G (p.Trp1779Gly) | |
| 3 | g.38550980A>G | CA352141215 | SCN5A | c.5389T>C (p.Trp1797Arg) c.5392T>C (p.Trp1798Arg) c.5338T>C (p.Trp1780Arg) c.5230T>C (p.Trp1744Arg) c.5293T>C (p.Trp1765Arg) c.5263T>C (p.Trp1755Arg) c.5335T>C (p.Trp1779Arg) | |
| 3 | g.38550980A>T | CA352141216 | SCN5A | c.5389T>A (p.Trp1797Arg) c.5392T>A (p.Trp1798Arg) c.5338T>A (p.Trp1780Arg) c.5230T>A (p.Trp1744Arg) c.5293T>A (p.Trp1765Arg) c.5263T>A (p.Trp1755Arg) c.5335T>A (p.Trp1779Arg) | |
| 3 | g.38550981G>A | CA433331768 | SCN5A | c.5388C>T (p.Ile1796=) c.5391C>T (p.Ile1797=) c.5337C>T (p.Ile1779=) c.5229C>T (p.Ile1743=) c.5292C>T (p.Ile1764=) c.5262C>T (p.Ile1754=) c.5334C>T (p.Ile1778=) | |
| 3 | g.38550981G>C | CA352141217 | SCN5A | c.5388C>G (p.Ile1796Met) c.5391C>G (p.Ile1797Met) c.5337C>G (p.Ile1779Met) c.5229C>G (p.Ile1743Met) c.5292C>G (p.Ile1764Met) c.5262C>G (p.Ile1754Met) c.5334C>G (p.Ile1778Met) | |
| 3 | g.38550981G>T | CA433331769 | SCN5A | c.5388C>A (p.Ile1796=) c.5391C>A (p.Ile1797=) c.5337C>A (p.Ile1779=) c.5229C>A (p.Ile1743=) c.5292C>A (p.Ile1764=) c.5262C>A (p.Ile1754=) c.5334C>A (p.Ile1778=) | |
| 3 | g.38550982A>C | CA352141218 | SCN5A | c.5387T>G (p.Ile1796Ser) c.5390T>G (p.Ile1797Ser) c.5336T>G (p.Ile1779Ser) c.5228T>G (p.Ile1743Ser) c.5291T>G (p.Ile1764Ser) c.5261T>G (p.Ile1754Ser) c.5333T>G (p.Ile1778Ser) | |
| 3 | g.38550982A>G | CA352141220 | SCN5A | c.5387T>C (p.Ile1796Thr) c.5390T>C (p.Ile1797Thr) c.5336T>C (p.Ile1779Thr) c.5228T>C (p.Ile1743Thr) c.5291T>C (p.Ile1764Thr) c.5261T>C (p.Ile1754Thr) c.5333T>C (p.Ile1778Thr) | |
| 3 | g.38550982A>T | CA352141219 | SCN5A | c.5387T>A (p.Ile1796Asn) c.5390T>A (p.Ile1797Asn) c.5336T>A (p.Ile1779Asn) c.5228T>A (p.Ile1743Asn) c.5291T>A (p.Ile1764Asn) c.5261T>A (p.Ile1754Asn) c.5333T>A (p.Ile1778Asn) | |
| 3 | g.38550983T>A | CA352141221 | SCN5A | c.5386A>T (p.Ile1796Phe) c.5389A>T (p.Ile1797Phe) c.5335A>T (p.Ile1779Phe) c.5227A>T (p.Ile1743Phe) c.5290A>T (p.Ile1764Phe) c.5260A>T (p.Ile1754Phe) c.5332A>T (p.Ile1778Phe) | |
| 3 | g.38550983T>C | CA064371 | SCN5A | c.5386A>G (p.Ile1796Val) c.5389A>G (p.Ile1797Val) c.5335A>G (p.Ile1779Val) c.5227A>G (p.Ile1743Val) c.5290A>G (p.Ile1764Val) c.5260A>G (p.Ile1754Val) c.5332A>G (p.Ile1778Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550983T>G | CA352141222 | SCN5A | c.5386A>C (p.Ile1796Leu) c.5389A>C (p.Ile1797Leu) c.5335A>C (p.Ile1779Leu) c.5227A>C (p.Ile1743Leu) c.5290A>C (p.Ile1764Leu) c.5260A>C (p.Ile1754Leu) c.5332A>C (p.Ile1778Leu) | |
| 3 | g.38550983T= | CA1358557053 | SCN5A | c.5386A= (p.Ile1796=) c.5389A= (p.Ile1797=) c.5335A= (p.Ile1779=) c.5227A= (p.Ile1743=) c.5290A= (p.Ile1764=) c.5260A= (p.Ile1754=) c.5332A= (p.Ile1778=) | |
| 3 | g.38550984C>A | CA352141223 | SCN5A | c.5385G>T (p.Glu1795Asp) c.5388G>T (p.Glu1796Asp) c.5334G>T (p.Glu1778Asp) c.5226G>T (p.Glu1742Asp) c.5289G>T (p.Glu1763Asp) c.5259G>T (p.Glu1753Asp) c.5331G>T (p.Glu1777Asp) | ClinVar dbSNP |
| 3 | g.38550984C= | CA1358557057 | SCN5A | c.5385G= (p.Glu1795=) c.5388G= (p.Glu1796=) c.5334G= (p.Glu1778=) c.5226G= (p.Glu1742=) c.5289G= (p.Glu1763=) c.5259G= (p.Glu1753=) c.5331G= (p.Glu1777=) | |
| 3 | g.38550984C>G | CA352141224 | SCN5A | c.5385G>C (p.Glu1795Asp) c.5388G>C (p.Glu1796Asp) c.5334G>C (p.Glu1778Asp) c.5226G>C (p.Glu1742Asp) c.5289G>C (p.Glu1763Asp) c.5259G>C (p.Glu1753Asp) c.5331G>C (p.Glu1777Asp) | dbSNP |
| 3 | g.38550984C>T | CA433331774 | SCN5A | c.5385G>A (p.Glu1795=) c.5388G>A (p.Glu1796=) c.5334G>A (p.Glu1778=) c.5226G>A (p.Glu1742=) c.5289G>A (p.Glu1763=) c.5259G>A (p.Glu1753=) c.5331G>A (p.Glu1777=) | |
| 3 | g.38550985T>A | CA352141225 | SCN5A | c.5384A>T (p.Glu1795Val) c.5387A>T (p.Glu1796Val) c.5333A>T (p.Glu1778Val) c.5225A>T (p.Glu1742Val) c.5288A>T (p.Glu1763Val) c.5258A>T (p.Glu1753Val) c.5330A>T (p.Glu1777Val) | |
| 3 | g.38550985T>C | CA352141226 | SCN5A | c.5384A>G (p.Glu1795Gly) c.5387A>G (p.Glu1796Gly) c.5333A>G (p.Glu1778Gly) c.5225A>G (p.Glu1742Gly) c.5288A>G (p.Glu1763Gly) c.5258A>G (p.Glu1753Gly) c.5330A>G (p.Glu1777Gly) | |
| 3 | g.38550985T>G | CA352141227 | SCN5A | c.5384A>C (p.Glu1795Ala) c.5387A>C (p.Glu1796Ala) c.5333A>C (p.Glu1778Ala) c.5225A>C (p.Glu1742Ala) c.5288A>C (p.Glu1763Ala) c.5258A>C (p.Glu1753Ala) c.5330A>C (p.Glu1777Ala) | |
| 3 | g.38550986_38550988dup | CA025554 | SCN5A | c.5382_5384dup (p.Tyr1794_Glu1795insAsp) c.5385_5387dup (p.Tyr1795_Glu1796insAsp) c.5331_5333dup (p.Tyr1777_Glu1778insAsp) c.5223_5225dup (p.Tyr1741_Glu1742insAsp) c.5286_5288dup (p.Tyr1762_Glu1763insAsp) c.5256_5258dup (p.Tyr1752_Glu1753insAsp) c.5328_5330dup (p.Tyr1776_Glu1777insAsp) | ClinVar dbSNP |
| 3 | g.38550986C>A | CA352141228 | SCN5A | c.5383G>T (p.Glu1795Ter) c.5386G>T (p.Glu1796Ter) c.5332G>T (p.Glu1778Ter) c.5224G>T (p.Glu1742Ter) c.5287G>T (p.Glu1763Ter) c.5257G>T (p.Glu1753Ter) c.5329G>T (p.Glu1777Ter) | ClinVar dbSNP |
| 3 | g.38550986C= | CA1358557066 | SCN5A | c.5383G= (p.Glu1795=) c.5386G= (p.Glu1796=) c.5332G= (p.Glu1778=) c.5224G= (p.Glu1742=) c.5287G= (p.Glu1763=) c.5257G= (p.Glu1753=) c.5329G= (p.Glu1777=) | |
| 3 | g.38550986C>G | CA352141229 | SCN5A | c.5383G>C (p.Glu1795Gln) c.5386G>C (p.Glu1796Gln) c.5332G>C (p.Glu1778Gln) c.5224G>C (p.Glu1742Gln) c.5287G>C (p.Glu1763Gln) c.5257G>C (p.Glu1753Gln) c.5329G>C (p.Glu1777Gln) | |
| 3 | g.38550986C>T | CA352141230 | SCN5A | c.5383G>A (p.Glu1795Lys) c.5386G>A (p.Glu1796Lys) c.5332G>A (p.Glu1778Lys) c.5224G>A (p.Glu1742Lys) c.5287G>A (p.Glu1763Lys) c.5257G>A (p.Glu1753Lys) c.5329G>A (p.Glu1777Lys) | |
| 3 | g.38550986_38550988delinsCAT | CA1358557065 | SCN5A | c.5381_5383delinsATG (p.Tyr1794=) c.5384_5386delinsATG (p.Tyr1795=) c.5330_5332delinsATG (p.Tyr1777=) c.5222_5224delinsATG (p.Tyr1741=) c.5285_5287delinsATG (p.Tyr1762=) c.5255_5257delinsATG (p.Tyr1752=) c.5327_5329delinsATG (p.Tyr1776=) | |
| 3 | g.38550987A>C | CA352141231 | SCN5A | c.5382T>G (p.Tyr1794Ter) c.5385T>G (p.Tyr1795Ter) c.5331T>G (p.Tyr1777Ter) c.5223T>G (p.Tyr1741Ter) c.5286T>G (p.Tyr1762Ter) c.5256T>G (p.Tyr1752Ter) c.5328T>G (p.Tyr1776Ter) | gnomAD v4 |
| 3 | g.38550987A>G | CA433331787 | SCN5A | c.5382T>C (p.Tyr1794=) c.5385T>C (p.Tyr1795=) c.5331T>C (p.Tyr1777=) c.5223T>C (p.Tyr1741=) c.5286T>C (p.Tyr1762=) c.5256T>C (p.Tyr1752=) c.5328T>C (p.Tyr1776=) | ClinVar gnomAD v4 |
| 3 | g.38550987A>T | CA352141232 | SCN5A | c.5382T>A (p.Tyr1794Ter) c.5385T>A (p.Tyr1795Ter) c.5331T>A (p.Tyr1777Ter) c.5223T>A (p.Tyr1741Ter) c.5286T>A (p.Tyr1762Ter) c.5256T>A (p.Tyr1752Ter) c.5328T>A (p.Tyr1776Ter) | |
| 3 | g.38550988_38550989del | CA891843408 | SCN5A | c.5381_5382del (p.Tyr1794Ter) c.5384_5385del (p.Tyr1795Ter) c.5330_5331del (p.Tyr1777Ter) c.5222_5223del (p.Tyr1741Ter) c.5285_5286del (p.Tyr1762Ter) c.5255_5256del (p.Tyr1752Ter) c.5327_5328del (p.Tyr1776Ter) | ClinVar dbSNP |
| 3 | g.38550988T>A | CA352141234 | SCN5A | c.5381A>T (p.Tyr1794Phe) c.5384A>T (p.Tyr1795Phe) c.5330A>T (p.Tyr1777Phe) c.5222A>T (p.Tyr1741Phe) c.5285A>T (p.Tyr1762Phe) c.5255A>T (p.Tyr1752Phe) c.5327A>T (p.Tyr1776Phe) | |
| 3 | g.38550988T>C | CA019196 | SCN5A | c.5381A>G (p.Tyr1794Cys) c.5384A>G (p.Tyr1795Cys) c.5330A>G (p.Tyr1777Cys) c.5222A>G (p.Tyr1741Cys) c.5285A>G (p.Tyr1762Cys) c.5255A>G (p.Tyr1752Cys) c.5327A>G (p.Tyr1776Cys) | ClinVar dbSNP |
| 3 | g.38550988T>G | CA352141233 | SCN5A | c.5381A>C (p.Tyr1794Ser) c.5384A>C (p.Tyr1795Ser) c.5330A>C (p.Tyr1777Ser) c.5222A>C (p.Tyr1741Ser) c.5285A>C (p.Tyr1762Ser) c.5255A>C (p.Tyr1752Ser) c.5327A>C (p.Tyr1776Ser) | |
| 3 | g.38550988T= | CA1358557075 | SCN5A | c.5381A= (p.Tyr1794=) c.5384A= (p.Tyr1795=) c.5330A= (p.Tyr1777=) c.5222A= (p.Tyr1741=) c.5285A= (p.Tyr1762=) c.5255A= (p.Tyr1752=) c.5327A= (p.Tyr1776=) | |
| 3 | g.38550989A= | CA1358557082 | SCN5A | c.5380T= (p.Tyr1794=) c.5383T= (p.Tyr1795=) c.5329T= (p.Tyr1777=) c.5221T= (p.Tyr1741=) c.5284T= (p.Tyr1762=) c.5254T= (p.Tyr1752=) c.5326T= (p.Tyr1776=) | |
| 3 | g.38550989A>C | CA352141235 | SCN5A | c.5380T>G (p.Tyr1794Asp) c.5383T>G (p.Tyr1795Asp) c.5329T>G (p.Tyr1777Asp) c.5221T>G (p.Tyr1741Asp) c.5284T>G (p.Tyr1762Asp) c.5254T>G (p.Tyr1752Asp) c.5326T>G (p.Tyr1776Asp) |