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.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) | |
| 3 | g.38551006T>A | CA352141274 | SCN5A | c.5363A>T (p.Asp1788Val) c.5366A>T (p.Asp1789Val) c.5312A>T (p.Asp1771Val) c.5204A>T (p.Asp1735Val) c.5267A>T (p.Asp1756Val) c.5237A>T (p.Asp1746Val) c.5309A>T (p.Asp1770Val) | |
| 3 | g.38551006T>C | CA352141275 | SCN5A | c.5363A>G (p.Asp1788Gly) c.5366A>G (p.Asp1789Gly) c.5312A>G (p.Asp1771Gly) c.5204A>G (p.Asp1735Gly) c.5267A>G (p.Asp1756Gly) c.5237A>G (p.Asp1746Gly) c.5309A>G (p.Asp1770Gly) | |
| 3 | g.38551006T>G | CA352141276 | SCN5A | c.5363A>C (p.Asp1788Ala) c.5366A>C (p.Asp1789Ala) c.5312A>C (p.Asp1771Ala) c.5204A>C (p.Asp1735Ala) c.5267A>C (p.Asp1756Ala) c.5237A>C (p.Asp1746Ala) c.5309A>C (p.Asp1770Ala) | |
| 3 | g.38551007C>A | CA352141277 | SCN5A | c.5362G>T (p.Asp1788Tyr) c.5365G>T (p.Asp1789Tyr) c.5311G>T (p.Asp1771Tyr) c.5203G>T (p.Asp1735Tyr) c.5266G>T (p.Asp1756Tyr) c.5236G>T (p.Asp1746Tyr) c.5308G>T (p.Asp1770Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38551007C>G | CA352141278 | SCN5A | c.5362G>C (p.Asp1788His) c.5365G>C (p.Asp1789His) c.5311G>C (p.Asp1771His) c.5203G>C (p.Asp1735His) c.5266G>C (p.Asp1756His) c.5236G>C (p.Asp1746His) c.5308G>C (p.Asp1770His) | |
| 3 | g.38551007C>T | CA352141279 | SCN5A | c.5362G>A (p.Asp1788Asn) c.5365G>A (p.Asp1789Asn) c.5311G>A (p.Asp1771Asn) c.5203G>A (p.Asp1735Asn) c.5266G>A (p.Asp1756Asn) c.5236G>A (p.Asp1746Asn) c.5308G>A (p.Asp1770Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38551007_38551011delinsCCTCA | CA1358557150 | SCN5A | c.5358_5362delinsTGAGG (p.Ser1786=) c.5361_5365delinsTGAGG (p.Ser1787=) c.5307_5311delinsTGAGG (p.Ser1769=) c.5199_5203delinsTGAGG (p.Ser1733=) c.5262_5266delinsTGAGG (p.Ser1754=) c.5232_5236delinsTGAGG (p.Ser1744=) c.5304_5308delinsTGAGG (p.Ser1768=) | |
| 3 | g.38551008C>A | CA352141281 | SCN5A | c.5361G>T (p.Glu1787Asp) c.5364G>T (p.Glu1788Asp) c.5310G>T (p.Glu1770Asp) c.5202G>T (p.Glu1734Asp) c.5265G>T (p.Glu1755Asp) c.5235G>T (p.Glu1745Asp) c.5307G>T (p.Glu1769Asp) | |
| 3 | g.38551008C= | CA1358557156 | SCN5A | c.5361G= (p.Glu1787=) c.5364G= (p.Glu1788=) c.5310G= (p.Glu1770=) c.5202G= (p.Glu1734=) c.5265G= (p.Glu1755=) c.5235G= (p.Glu1745=) c.5307G= (p.Glu1769=) | |
| 3 | g.38551008C>G | CA352141283 | SCN5A | c.5361G>C (p.Glu1787Asp) c.5364G>C (p.Glu1788Asp) c.5310G>C (p.Glu1770Asp) c.5202G>C (p.Glu1734Asp) c.5265G>C (p.Glu1755Asp) c.5235G>C (p.Glu1745Asp) c.5307G>C (p.Glu1769Asp) | |
| 3 | g.38551008C>T | CA433331855 | SCN5A | c.5361G>A (p.Glu1787=) c.5364G>A (p.Glu1788=) c.5310G>A (p.Glu1770=) c.5202G>A (p.Glu1734=) c.5265G>A (p.Glu1755=) c.5235G>A (p.Glu1745=) c.5307G>A (p.Glu1769=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551012_38551015del | CA891843409 | SCN5A | c.5358_5361del (p.Ser1786ArgfsTer?) c.5361_5364del (p.Ser1787ArgfsTer?) c.5307_5310del (p.Ser1769ArgfsTer?) c.5199_5202del (p.Ser1733ArgfsTer?) c.5262_5265del (p.Ser1754ArgfsTer?) c.5232_5235del (p.Ser1744ArgfsTer?) c.5304_5307del (p.Ser1768ArgfsTer?) | ClinVar dbSNP |
| 3 | g.38551009T>A | CA352141285 | SCN5A | c.5360A>T (p.Glu1787Val) c.5363A>T (p.Glu1788Val) c.5309A>T (p.Glu1770Val) c.5201A>T (p.Glu1734Val) c.5264A>T (p.Glu1755Val) c.5234A>T (p.Glu1745Val) c.5306A>T (p.Glu1769Val) | |
| 3 | g.38551009T>C | CA352141287 | SCN5A | c.5360A>G (p.Glu1787Gly) c.5363A>G (p.Glu1788Gly) c.5309A>G (p.Glu1770Gly) c.5201A>G (p.Glu1734Gly) c.5264A>G (p.Glu1755Gly) c.5234A>G (p.Glu1745Gly) c.5306A>G (p.Glu1769Gly) | |
| 3 | g.38551009T>G | CA352141289 | SCN5A | c.5360A>C (p.Glu1787Ala) c.5363A>C (p.Glu1788Ala) c.5309A>C (p.Glu1770Ala) c.5201A>C (p.Glu1734Ala) c.5264A>C (p.Glu1755Ala) c.5234A>C (p.Glu1745Ala) c.5306A>C (p.Glu1769Ala) | |
| 3 | g.38551010C>A | CA352141291 | SCN5A | c.5359G>T (p.Glu1787Ter) c.5362G>T (p.Glu1788Ter) c.5308G>T (p.Glu1770Ter) c.5200G>T (p.Glu1734Ter) c.5263G>T (p.Glu1755Ter) c.5233G>T (p.Glu1745Ter) c.5305G>T (p.Glu1769Ter) | dbSNP |
| 3 | g.38551010C= | CA1358557161 | SCN5A | c.5359G= (p.Glu1787=) c.5362G= (p.Glu1788=) c.5308G= (p.Glu1770=) c.5200G= (p.Glu1734=) c.5263G= (p.Glu1755=) c.5233G= (p.Glu1745=) c.5305G= (p.Glu1769=) | |
| 3 | g.38551010C>G | CA352141293 | SCN5A | c.5359G>C (p.Glu1787Gln) c.5362G>C (p.Glu1788Gln) c.5308G>C (p.Glu1770Gln) c.5200G>C (p.Glu1734Gln) c.5263G>C (p.Glu1755Gln) c.5233G>C (p.Glu1745Gln) c.5305G>C (p.Glu1769Gln) | |
| 3 | g.38551010C>T | CA352141295 | SCN5A | c.5359G>A (p.Glu1787Lys) c.5362G>A (p.Glu1788Lys) c.5308G>A (p.Glu1770Lys) c.5200G>A (p.Glu1734Lys) c.5263G>A (p.Glu1755Lys) c.5233G>A (p.Glu1745Lys) c.5305G>A (p.Glu1769Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551011A>C | CA352141298 | SCN5A | c.5358T>G (p.Ser1786Arg) c.5361T>G (p.Ser1787Arg) c.5307T>G (p.Ser1769Arg) c.5199T>G (p.Ser1733Arg) c.5262T>G (p.Ser1754Arg) c.5232T>G (p.Ser1744Arg) c.5304T>G (p.Ser1768Arg) | |
| 3 | g.38551011A>G | CA433331860 | SCN5A | c.5358T>C (p.Ser1786=) c.5361T>C (p.Ser1787=) c.5307T>C (p.Ser1769=) c.5199T>C (p.Ser1733=) c.5262T>C (p.Ser1754=) c.5232T>C (p.Ser1744=) c.5304T>C (p.Ser1768=) | |
| 3 | g.38551011A>T | CA352141299 | SCN5A | c.5358T>A (p.Ser1786Arg) c.5361T>A (p.Ser1787Arg) c.5307T>A (p.Ser1769Arg) c.5199T>A (p.Ser1733Arg) c.5262T>A (p.Ser1754Arg) c.5232T>A (p.Ser1744Arg) c.5304T>A (p.Ser1768Arg) | |
| 3 | g.38551012C>A | CA352141302 | SCN5A | c.5357G>T (p.Ser1786Ile) c.5360G>T (p.Ser1787Ile) c.5306G>T (p.Ser1769Ile) c.5198G>T (p.Ser1733Ile) c.5261G>T (p.Ser1754Ile) c.5231G>T (p.Ser1744Ile) c.5303G>T (p.Ser1768Ile) | |
| 3 | g.38551012C= | CA1358557165 | SCN5A | c.5357G= (p.Ser1786=) c.5360G= (p.Ser1787=) c.5306G= (p.Ser1769=) c.5198G= (p.Ser1733=) c.5261G= (p.Ser1754=) c.5231G= (p.Ser1744=) c.5303G= (p.Ser1768=) | |
| 3 | g.38551012C>G | CA019163 | SCN5A | c.5357G>C (p.Ser1786Thr) c.5360G>C (p.Ser1787Thr) c.5306G>C (p.Ser1769Thr) c.5198G>C (p.Ser1733Thr) c.5261G>C (p.Ser1754Thr) c.5231G>C (p.Ser1744Thr) c.5303G>C (p.Ser1768Thr) | ClinVar dbSNP |
| 3 | g.38551012C>T | CA019158 | SCN5A | c.5357G>A (p.Ser1786Asn) c.5360G>A (p.Ser1787Asn) c.5306G>A (p.Ser1769Asn) c.5198G>A (p.Ser1733Asn) c.5261G>A (p.Ser1754Asn) c.5231G>A (p.Ser1744Asn) c.5303G>A (p.Ser1768Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551013T>A | CA352141307 | SCN5A | c.5356A>T (p.Ser1786Cys) c.5359A>T (p.Ser1787Cys) c.5305A>T (p.Ser1769Cys) c.5197A>T (p.Ser1733Cys) c.5260A>T (p.Ser1754Cys) c.5230A>T (p.Ser1744Cys) c.5302A>T (p.Ser1768Cys) | gnomAD v4 |
| 3 | g.38551013T>C | CA352141309 | SCN5A | c.5356A>G (p.Ser1786Gly) c.5359A>G (p.Ser1787Gly) c.5305A>G (p.Ser1769Gly) c.5197A>G (p.Ser1733Gly) c.5260A>G (p.Ser1754Gly) c.5230A>G (p.Ser1744Gly) c.5302A>G (p.Ser1768Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551013T>G | CA352141310 | SCN5A | c.5356A>C (p.Ser1786Arg) c.5359A>C (p.Ser1787Arg) c.5305A>C (p.Ser1769Arg) c.5197A>C (p.Ser1733Arg) c.5260A>C (p.Ser1754Arg) c.5230A>C (p.Ser1744Arg) c.5302A>C (p.Ser1768Arg) | |
| 3 | g.38551013T= | CA1358557171 | SCN5A | c.5356A= (p.Ser1786=) c.5359A= (p.Ser1787=) c.5305A= (p.Ser1769=) c.5197A= (p.Ser1733=) c.5260A= (p.Ser1754=) c.5230A= (p.Ser1744=) c.5302A= (p.Ser1768=) | |
| 3 | g.38551014C>A | CA433331885 | SCN5A | c.5355G>T (p.Leu1785=) c.5358G>T (p.Leu1786=) c.5304G>T (p.Leu1768=) c.5196G>T (p.Leu1732=) c.5259G>T (p.Leu1753=) c.5229G>T (p.Leu1743=) c.5301G>T (p.Leu1767=) | |
| 3 | g.38551014C= | CA1358557172 | SCN5A | c.5355G= (p.Leu1785=) c.5358G= (p.Leu1786=) c.5304G= (p.Leu1768=) c.5196G= (p.Leu1732=) c.5259G= (p.Leu1753=) c.5229G= (p.Leu1743=) c.5301G= (p.Leu1767=) | |
| 3 | g.38551014C>G | CA433331889 | SCN5A | c.5355G>C (p.Leu1785=) c.5358G>C (p.Leu1786=) c.5304G>C (p.Leu1768=) c.5196G>C (p.Leu1732=) c.5259G>C (p.Leu1753=) c.5229G>C (p.Leu1743=) c.5301G>C (p.Leu1767=) | gnomAD v4 |
| 3 | g.38551014C>T | CA433331890 | SCN5A | c.5355G>A (p.Leu1785=) c.5358G>A (p.Leu1786=) c.5304G>A (p.Leu1768=) c.5196G>A (p.Leu1732=) c.5259G>A (p.Leu1753=) c.5229G>A (p.Leu1743=) c.5301G>A (p.Leu1767=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551014_38551016delinsCAG | CA1358557173 | SCN5A | c.5353_5355delinsCTG (p.Leu1785=) c.5356_5358delinsCTG (p.Leu1786=) c.5302_5304delinsCTG (p.Leu1768=) c.5194_5196delinsCTG (p.Leu1732=) c.5257_5259delinsCTG (p.Leu1753=) c.5227_5229delinsCTG (p.Leu1743=) c.5299_5301delinsCTG (p.Leu1767=) | |
| 3 | g.38551015A= | CA1358557177 | SCN5A | c.5354T= (p.Leu1785=) c.5357T= (p.Leu1786=) c.5303T= (p.Leu1768=) c.5195T= (p.Leu1732=) c.5258T= (p.Leu1753=) c.5228T= (p.Leu1743=) c.5300T= (p.Leu1767=) | |
| 3 | g.38551015A>C | CA352141313 | SCN5A | c.5354T>G (p.Leu1785Arg) c.5357T>G (p.Leu1786Arg) c.5303T>G (p.Leu1768Arg) c.5195T>G (p.Leu1732Arg) c.5258T>G (p.Leu1753Arg) c.5228T>G (p.Leu1743Arg) c.5300T>G (p.Leu1767Arg) |