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.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) | |
| 3 | g.38550989A>G | CA019191 | SCN5A | c.5380T>C (p.Tyr1794His) c.5383T>C (p.Tyr1795His) c.5329T>C (p.Tyr1777His) c.5221T>C (p.Tyr1741His) c.5284T>C (p.Tyr1762His) c.5254T>C (p.Tyr1752His) c.5326T>C (p.Tyr1776His) | ClinVar dbSNP |
| 3 | g.38550989A>T | CA352141236 | SCN5A | c.5380T>A (p.Tyr1794Asn) c.5383T>A (p.Tyr1795Asn) c.5329T>A (p.Tyr1777Asn) c.5221T>A (p.Tyr1741Asn) c.5284T>A (p.Tyr1762Asn) c.5254T>A (p.Tyr1752Asn) c.5326T>A (p.Tyr1776Asn) | |
| 3 | g.38550990G>A | CA433331803 | SCN5A | c.5379C>T (p.Phe1793=) c.5382C>T (p.Phe1794=) c.5328C>T (p.Phe1776=) c.5220C>T (p.Phe1740=) c.5283C>T (p.Phe1761=) c.5253C>T (p.Phe1751=) c.5325C>T (p.Phe1775=) | |
| 3 | g.38550990G>C | CA352141237 | SCN5A | c.5379C>G (p.Phe1793Leu) c.5382C>G (p.Phe1794Leu) c.5328C>G (p.Phe1776Leu) c.5220C>G (p.Phe1740Leu) c.5283C>G (p.Phe1761Leu) c.5253C>G (p.Phe1751Leu) c.5325C>G (p.Phe1775Leu) | |
| 3 | g.38550990G>T | CA352141238 | SCN5A | c.5379C>A (p.Phe1793Leu) c.5382C>A (p.Phe1794Leu) c.5328C>A (p.Phe1776Leu) c.5220C>A (p.Phe1740Leu) c.5283C>A (p.Phe1761Leu) c.5253C>A (p.Phe1751Leu) c.5325C>A (p.Phe1775Leu) | |
| 3 | g.38550990_38550991delinsGA | CA1358557086 | SCN5A | c.5378_5379delinsTC (p.Phe1793=) c.5381_5382delinsTC (p.Phe1794=) c.5327_5328delinsTC (p.Phe1776=) c.5219_5220delinsTC (p.Phe1740=) c.5282_5283delinsTC (p.Phe1761=) c.5252_5253delinsTC (p.Phe1751=) c.5324_5325delinsTC (p.Phe1775=) | |
| 3 | g.38550991A>C | CA352141239 | SCN5A | c.5378T>G (p.Phe1793Cys) c.5381T>G (p.Phe1794Cys) c.5327T>G (p.Phe1776Cys) c.5219T>G (p.Phe1740Cys) c.5282T>G (p.Phe1761Cys) c.5252T>G (p.Phe1751Cys) c.5324T>G (p.Phe1775Cys) | |
| 3 | g.38550991A>G | CA352141240 | SCN5A | c.5378T>C (p.Phe1793Ser) c.5381T>C (p.Phe1794Ser) c.5327T>C (p.Phe1776Ser) c.5219T>C (p.Phe1740Ser) c.5282T>C (p.Phe1761Ser) c.5252T>C (p.Phe1751Ser) c.5324T>C (p.Phe1775Ser) | |
| 3 | g.38550991A>T | CA352141241 | SCN5A | c.5378T>A (p.Phe1793Tyr) c.5381T>A (p.Phe1794Tyr) c.5327T>A (p.Phe1776Tyr) c.5219T>A (p.Phe1740Tyr) c.5282T>A (p.Phe1761Tyr) c.5252T>A (p.Phe1751Tyr) c.5324T>A (p.Phe1775Tyr) | |
| 3 | g.38550992del | CA916079918 | SCN5A | c.5378del (p.Phe1793SerfsTer?) c.5381del (p.Phe1794SerfsTer?) c.5327del (p.Phe1776SerfsTer?) c.5219del (p.Phe1740SerfsTer?) c.5282del (p.Phe1761SerfsTer?) c.5252del (p.Phe1751SerfsTer?) c.5324del (p.Phe1775SerfsTer?) | ClinVar dbSNP |
| 3 | g.38550992A>C | CA352141242 | SCN5A | c.5377T>G (p.Phe1793Val) c.5380T>G (p.Phe1794Val) c.5326T>G (p.Phe1776Val) c.5218T>G (p.Phe1740Val) c.5281T>G (p.Phe1761Val) c.5251T>G (p.Phe1751Val) c.5323T>G (p.Phe1775Val) | |
| 3 | g.38550992A>G | CA352141243 | SCN5A | c.5377T>C (p.Phe1793Leu) c.5380T>C (p.Phe1794Leu) c.5326T>C (p.Phe1776Leu) c.5218T>C (p.Phe1740Leu) c.5281T>C (p.Phe1761Leu) c.5251T>C (p.Phe1751Leu) c.5323T>C (p.Phe1775Leu) | gnomAD v4 |
| 3 | g.38550992A>T | CA352141244 | SCN5A | c.5377T>A (p.Phe1793Ile) c.5380T>A (p.Phe1794Ile) c.5326T>A (p.Phe1776Ile) c.5218T>A (p.Phe1740Ile) c.5281T>A (p.Phe1761Ile) c.5251T>A (p.Phe1751Ile) c.5323T>A (p.Phe1775Ile) | |
| 3 | g.38550993C>A | CA352141247 | SCN5A | c.5376G>T (p.Met1792Ile) c.5379G>T (p.Met1793Ile) c.5325G>T (p.Met1775Ile) c.5217G>T (p.Met1739Ile) c.5280G>T (p.Met1760Ile) c.5250G>T (p.Met1750Ile) c.5322G>T (p.Met1774Ile) | |
| 3 | g.38550993C= | CA1358557091 | SCN5A | c.5376G= (p.Met1792=) c.5379G= (p.Met1793=) c.5325G= (p.Met1775=) c.5217G= (p.Met1739=) c.5280G= (p.Met1760=) c.5250G= (p.Met1750=) c.5322G= (p.Met1774=) | |
| 3 | g.38550993C>G | CA352141246 | SCN5A | c.5376G>C (p.Met1792Ile) c.5379G>C (p.Met1793Ile) c.5325G>C (p.Met1775Ile) c.5217G>C (p.Met1739Ile) c.5280G>C (p.Met1760Ile) c.5250G>C (p.Met1750Ile) c.5322G>C (p.Met1774Ile) | dbSNP |
| 3 | g.38550993C>T | CA352141245 | SCN5A | c.5376G>A (p.Met1792Ile) c.5379G>A (p.Met1793Ile) c.5325G>A (p.Met1775Ile) c.5217G>A (p.Met1739Ile) c.5280G>A (p.Met1760Ile) c.5250G>A (p.Met1750Ile) c.5322G>A (p.Met1774Ile) | ClinVar dbSNP |
| 3 | g.38550994A= | CA1358557095 | SCN5A | c.5375T= (p.Met1792=) c.5378T= (p.Met1793=) c.5324T= (p.Met1775=) c.5216T= (p.Met1739=) c.5279T= (p.Met1760=) c.5249T= (p.Met1750=) c.5321T= (p.Met1774=) | |
| 3 | g.38550994A>C | CA352141248 | SCN5A | c.5375T>G (p.Met1792Arg) c.5378T>G (p.Met1793Arg) c.5324T>G (p.Met1775Arg) c.5216T>G (p.Met1739Arg) c.5279T>G (p.Met1760Arg) c.5249T>G (p.Met1750Arg) c.5321T>G (p.Met1774Arg) | |
| 3 | g.38550994A>G | CA352141249 | SCN5A | c.5375T>C (p.Met1792Thr) c.5378T>C (p.Met1793Thr) c.5324T>C (p.Met1775Thr) c.5216T>C (p.Met1739Thr) c.5279T>C (p.Met1760Thr) c.5249T>C (p.Met1750Thr) c.5321T>C (p.Met1774Thr) |