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.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) | |
| 3 | g.38550994A>T | CA019186 | SCN5A | c.5375T>A (p.Met1792Lys) c.5378T>A (p.Met1793Lys) c.5324T>A (p.Met1775Lys) c.5216T>A (p.Met1739Lys) c.5279T>A (p.Met1760Lys) c.5249T>A (p.Met1750Lys) c.5321T>A (p.Met1774Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550995T>A | CA352141250 | SCN5A | c.5374A>T (p.Met1792Leu) c.5377A>T (p.Met1793Leu) c.5323A>T (p.Met1775Leu) c.5215A>T (p.Met1739Leu) c.5278A>T (p.Met1760Leu) c.5248A>T (p.Met1750Leu) c.5320A>T (p.Met1774Leu) | |
| 3 | g.38550995T>C | CA352141251 | SCN5A | c.5374A>G (p.Met1792Val) c.5377A>G (p.Met1793Val) c.5323A>G (p.Met1775Val) c.5215A>G (p.Met1739Val) c.5278A>G (p.Met1760Val) c.5248A>G (p.Met1750Val) c.5320A>G (p.Met1774Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550995T>G | CA352141252 | SCN5A | c.5374A>C (p.Met1792Leu) c.5377A>C (p.Met1793Leu) c.5323A>C (p.Met1775Leu) c.5215A>C (p.Met1739Leu) c.5278A>C (p.Met1760Leu) c.5248A>C (p.Met1750Leu) c.5320A>C (p.Met1774Leu) | |
| 3 | g.38550995T= | CA1358557098 | SCN5A | c.5374A= (p.Met1792=) c.5377A= (p.Met1793=) c.5323A= (p.Met1775=) c.5215A= (p.Met1739=) c.5278A= (p.Met1760=) c.5248A= (p.Met1750=) c.5320A= (p.Met1774=) | |
| 3 | g.38550996A= | CA1358557101 | SCN5A | c.5373T= (p.Asp1791=) c.5376T= (p.Asp1792=) c.5322T= (p.Asp1774=) c.5214T= (p.Asp1738=) c.5277T= (p.Asp1759=) c.5247T= (p.Asp1749=) c.5319T= (p.Asp1773=) | |
| 3 | g.38550996A>C | CA352141253 | SCN5A | c.5373T>G (p.Asp1791Glu) c.5376T>G (p.Asp1792Glu) c.5322T>G (p.Asp1774Glu) c.5214T>G (p.Asp1738Glu) c.5277T>G (p.Asp1759Glu) c.5247T>G (p.Asp1749Glu) c.5319T>G (p.Asp1773Glu) | |
| 3 | g.38550996A>G | CA433331812 | SCN5A | c.5373T>C (p.Asp1791=) c.5376T>C (p.Asp1792=) c.5322T>C (p.Asp1774=) c.5214T>C (p.Asp1738=) c.5277T>C (p.Asp1759=) c.5247T>C (p.Asp1749=) c.5319T>C (p.Asp1773=) | gnomAD v4 |
| 3 | g.38550996A>T | CA72937945 | SCN5A | c.5373T>A (p.Asp1791Glu) c.5376T>A (p.Asp1792Glu) c.5322T>A (p.Asp1774Glu) c.5214T>A (p.Asp1738Glu) c.5277T>A (p.Asp1759Glu) c.5247T>A (p.Asp1749Glu) c.5319T>A (p.Asp1773Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550997T>A | CA064366 | SCN5A | c.5372A>T (p.Asp1791Val) c.5375A>T (p.Asp1792Val) c.5321A>T (p.Asp1774Val) c.5213A>T (p.Asp1738Val) c.5276A>T (p.Asp1759Val) c.5246A>T (p.Asp1749Val) c.5318A>T (p.Asp1773Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550997T>C | CA352141254 | SCN5A | c.5372A>G (p.Asp1791Gly) c.5375A>G (p.Asp1792Gly) c.5321A>G (p.Asp1774Gly) c.5213A>G (p.Asp1738Gly) c.5276A>G (p.Asp1759Gly) c.5246A>G (p.Asp1749Gly) c.5318A>G (p.Asp1773Gly) | dbSNP gnomAD v4 |
| 3 | g.38550997T>G | CA352141255 | SCN5A | c.5372A>C (p.Asp1791Ala) c.5375A>C (p.Asp1792Ala) c.5321A>C (p.Asp1774Ala) c.5213A>C (p.Asp1738Ala) c.5276A>C (p.Asp1759Ala) c.5246A>C (p.Asp1749Ala) c.5318A>C (p.Asp1773Ala) | |
| 3 | g.38550997T= | CA1358557109 | SCN5A | c.5372A= (p.Asp1791=) c.5375A= (p.Asp1792=) c.5321A= (p.Asp1774=) c.5213A= (p.Asp1738=) c.5276A= (p.Asp1759=) c.5246A= (p.Asp1749=) c.5318A= (p.Asp1773=) | |
| 3 | g.38550998C>A | CA352141256 | SCN5A | c.5371G>T (p.Asp1791Tyr) c.5374G>T (p.Asp1792Tyr) c.5320G>T (p.Asp1774Tyr) c.5212G>T (p.Asp1738Tyr) c.5275G>T (p.Asp1759Tyr) c.5245G>T (p.Asp1749Tyr) c.5317G>T (p.Asp1773Tyr) | dbSNP gnomAD v2 |
| 3 | g.38550998C= | CA1358557113 | SCN5A | c.5371G= (p.Asp1791=) c.5374G= (p.Asp1792=) c.5320G= (p.Asp1774=) c.5212G= (p.Asp1738=) c.5275G= (p.Asp1759=) c.5245G= (p.Asp1749=) c.5317G= (p.Asp1773=) | |
| 3 | g.38550998C>G | CA352141257 | SCN5A | c.5371G>C (p.Asp1791His) c.5374G>C (p.Asp1792His) c.5320G>C (p.Asp1774His) c.5212G>C (p.Asp1738His) c.5275G>C (p.Asp1759His) c.5245G>C (p.Asp1749His) c.5317G>C (p.Asp1773His) | |
| 3 | g.38550998C>T | CA019179 | SCN5A | c.5371G>A (p.Asp1791Asn) c.5374G>A (p.Asp1792Asn) c.5320G>A (p.Asp1774Asn) c.5212G>A (p.Asp1738Asn) c.5275G>A (p.Asp1759Asn) c.5245G>A (p.Asp1749Asn) c.5317G>A (p.Asp1773Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550999G>A | CA16604463 | SCN5A | c.5370C>T (p.Phe1790=) c.5373C>T (p.Phe1791=) c.5319C>T (p.Phe1773=) c.5211C>T (p.Phe1737=) c.5274C>T (p.Phe1758=) c.5244C>T (p.Phe1748=) c.5316C>T (p.Phe1772=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550999G>C | CA352141259 | SCN5A | c.5370C>G (p.Phe1790Leu) c.5373C>G (p.Phe1791Leu) c.5319C>G (p.Phe1773Leu) c.5211C>G (p.Phe1737Leu) c.5274C>G (p.Phe1758Leu) c.5244C>G (p.Phe1748Leu) c.5316C>G (p.Phe1772Leu) | dbSNP |
| 3 | g.38550999G= | CA1358557119 | SCN5A | c.5370C= (p.Phe1790=) c.5373C= (p.Phe1791=) c.5319C= (p.Phe1773=) c.5211C= (p.Phe1737=) c.5274C= (p.Phe1758=) c.5244C= (p.Phe1748=) c.5316C= (p.Phe1772=) | |
| 3 | g.38550999G>T | CA352141258 | SCN5A | c.5370C>A (p.Phe1790Leu) c.5373C>A (p.Phe1791Leu) c.5319C>A (p.Phe1773Leu) c.5211C>A (p.Phe1737Leu) c.5274C>A (p.Phe1758Leu) c.5244C>A (p.Phe1748Leu) c.5316C>A (p.Phe1772Leu) | |
| 3 | g.38551000A>C | CA352141260 | SCN5A | c.5369T>G (p.Phe1790Cys) c.5372T>G (p.Phe1791Cys) c.5318T>G (p.Phe1773Cys) c.5210T>G (p.Phe1737Cys) c.5273T>G (p.Phe1758Cys) c.5243T>G (p.Phe1748Cys) c.5315T>G (p.Phe1772Cys) | |
| 3 | g.38551000A>G | CA352141261 | SCN5A | c.5369T>C (p.Phe1790Ser) c.5372T>C (p.Phe1791Ser) c.5318T>C (p.Phe1773Ser) c.5210T>C (p.Phe1737Ser) c.5273T>C (p.Phe1758Ser) c.5243T>C (p.Phe1748Ser) c.5315T>C (p.Phe1772Ser) | |
| 3 | g.38551000A>T | CA352141262 | SCN5A | c.5369T>A (p.Phe1790Tyr) c.5372T>A (p.Phe1791Tyr) c.5318T>A (p.Phe1773Tyr) c.5210T>A (p.Phe1737Tyr) c.5273T>A (p.Phe1758Tyr) c.5243T>A (p.Phe1748Tyr) c.5315T>A (p.Phe1772Tyr) | |
| 3 | g.38551001A>C | CA352141263 | SCN5A | c.5368T>G (p.Phe1790Val) c.5371T>G (p.Phe1791Val) c.5317T>G (p.Phe1773Val) c.5209T>G (p.Phe1737Val) c.5272T>G (p.Phe1758Val) c.5242T>G (p.Phe1748Val) c.5314T>G (p.Phe1772Val) | COSMIC COSMIC COSMIC |
| 3 | g.38551001A>G | CA352141264 | SCN5A | c.5368T>C (p.Phe1790Leu) c.5371T>C (p.Phe1791Leu) c.5317T>C (p.Phe1773Leu) c.5209T>C (p.Phe1737Leu) c.5272T>C (p.Phe1758Leu) c.5242T>C (p.Phe1748Leu) c.5314T>C (p.Phe1772Leu) | |
| 3 | g.38551001A>T | CA352141265 | SCN5A | c.5368T>A (p.Phe1790Ile) c.5371T>A (p.Phe1791Ile) c.5317T>A (p.Phe1773Ile) c.5209T>A (p.Phe1737Ile) c.5272T>A (p.Phe1758Ile) c.5242T>A (p.Phe1748Ile) c.5314T>A (p.Phe1772Ile) | |
| 3 | g.38551002G>A | CA433331836 | SCN5A | c.5367C>T (p.Asp1789=) c.5370C>T (p.Asp1790=) c.5316C>T (p.Asp1772=) c.5208C>T (p.Asp1736=) c.5271C>T (p.Asp1757=) c.5241C>T (p.Asp1747=) c.5313C>T (p.Asp1771=) | ClinVar |
| 3 | g.38551002G>C | CA352141266 | SCN5A | c.5367C>G (p.Asp1789Glu) c.5370C>G (p.Asp1790Glu) c.5316C>G (p.Asp1772Glu) c.5208C>G (p.Asp1736Glu) c.5271C>G (p.Asp1757Glu) c.5241C>G (p.Asp1747Glu) c.5313C>G (p.Asp1771Glu) | |
| 3 | g.38551002G>T | CA352141267 | SCN5A | c.5367C>A (p.Asp1789Glu) c.5370C>A (p.Asp1790Glu) c.5316C>A (p.Asp1772Glu) c.5208C>A (p.Asp1736Glu) c.5271C>A (p.Asp1757Glu) c.5241C>A (p.Asp1747Glu) c.5313C>A (p.Asp1771Glu) | |
| 3 | g.38551005_38551007del | CA2586965777 | SCN5A | c.5365_5367del (p.Asp1789del) c.5368_5370del (p.Asp1790del) c.5314_5316del (p.Asp1772del) c.5206_5208del (p.Asp1736del) c.5269_5271del (p.Asp1757del) c.5239_5241del (p.Asp1747del) c.5311_5313del (p.Asp1771del) | |
| 3 | g.38551003T>A | CA352141268 | SCN5A | c.5366A>T (p.Asp1789Val) c.5369A>T (p.Asp1790Val) c.5315A>T (p.Asp1772Val) c.5207A>T (p.Asp1736Val) c.5270A>T (p.Asp1757Val) c.5240A>T (p.Asp1747Val) c.5312A>T (p.Asp1771Val) | |
| 3 | g.38551003T>C | CA019174 | SCN5A | c.5366A>G (p.Asp1789Gly) c.5369A>G (p.Asp1790Gly) c.5315A>G (p.Asp1772Gly) c.5207A>G (p.Asp1736Gly) c.5270A>G (p.Asp1757Gly) c.5240A>G (p.Asp1747Gly) c.5312A>G (p.Asp1771Gly) | ClinVar dbSNP |
| 3 | g.38551003T>G | CA352141269 | SCN5A | c.5366A>C (p.Asp1789Ala) c.5369A>C (p.Asp1790Ala) c.5315A>C (p.Asp1772Ala) c.5207A>C (p.Asp1736Ala) c.5270A>C (p.Asp1757Ala) c.5240A>C (p.Asp1747Ala) c.5312A>C (p.Asp1771Ala) | |
| 3 | g.38551003T= | CA1358557127 | SCN5A | c.5366A= (p.Asp1789=) c.5369A= (p.Asp1790=) c.5315A= (p.Asp1772=) c.5207A= (p.Asp1736=) c.5270A= (p.Asp1757=) c.5240A= (p.Asp1747=) c.5312A= (p.Asp1771=) | |
| 3 | g.38551004C>A | CA352141270 | SCN5A | c.5365G>T (p.Asp1789Tyr) c.5368G>T (p.Asp1790Tyr) c.5314G>T (p.Asp1772Tyr) c.5206G>T (p.Asp1736Tyr) c.5269G>T (p.Asp1757Tyr) c.5239G>T (p.Asp1747Tyr) c.5311G>T (p.Asp1771Tyr) | |
| 3 | g.38551004C= | CA1358557135 | SCN5A | c.5365G= (p.Asp1789=) c.5368G= (p.Asp1790=) c.5314G= (p.Asp1772=) c.5206G= (p.Asp1736=) c.5269G= (p.Asp1757=) c.5239G= (p.Asp1747=) c.5311G= (p.Asp1771=) | |
| 3 | g.38551004C>G | CA352141271 | SCN5A | c.5365G>C (p.Asp1789His) c.5368G>C (p.Asp1790His) c.5314G>C (p.Asp1772His) c.5206G>C (p.Asp1736His) c.5269G>C (p.Asp1757His) c.5239G>C (p.Asp1747His) c.5311G>C (p.Asp1771His) | |
| 3 | g.38551004C>T | CA064352 | SCN5A | c.5365G>A (p.Asp1789Asn) c.5368G>A (p.Asp1790Asn) c.5314G>A (p.Asp1772Asn) c.5206G>A (p.Asp1736Asn) c.5269G>A (p.Asp1757Asn) c.5239G>A (p.Asp1747Asn) c.5311G>A (p.Asp1771Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551005G>A | CA019169 | SCN5A | c.5364C>T (p.Asp1788=) c.5367C>T (p.Asp1789=) c.5313C>T (p.Asp1771=) c.5205C>T (p.Asp1735=) c.5268C>T (p.Asp1756=) c.5238C>T (p.Asp1746=) c.5310C>T (p.Asp1770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551005G>C | CA352141273 | SCN5A | c.5364C>G (p.Asp1788Glu) c.5367C>G (p.Asp1789Glu) c.5313C>G (p.Asp1771Glu) c.5205C>G (p.Asp1735Glu) c.5268C>G (p.Asp1756Glu) c.5238C>G (p.Asp1746Glu) c.5310C>G (p.Asp1770Glu) | |
| 3 | g.38551005G= | CA1358557140 | SCN5A | c.5364C= (p.Asp1788=) c.5367C= (p.Asp1789=) c.5313C= (p.Asp1771=) c.5205C= (p.Asp1735=) c.5268C= (p.Asp1756=) c.5238C= (p.Asp1746=) c.5310C= (p.Asp1770=) | |
| 3 | g.38551005G>T | CA352141272 | SCN5A | c.5364C>A (p.Asp1788Glu) c.5367C>A (p.Asp1789Glu) c.5313C>A (p.Asp1771Glu) c.5205C>A (p.Asp1735Glu) c.5268C>A (p.Asp1756Glu) c.5238C>A (p.Asp1746Glu) c.5310C>A (p.Asp1770Glu) |