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.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.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) | |
| 3 | g.38551015A>G | CA352141314 | SCN5A | c.5354T>C (p.Leu1785Pro) c.5357T>C (p.Leu1786Pro) c.5303T>C (p.Leu1768Pro) c.5195T>C (p.Leu1732Pro) c.5258T>C (p.Leu1753Pro) c.5228T>C (p.Leu1743Pro) c.5300T>C (p.Leu1767Pro) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38551015A>T | CA019153 | SCN5A | c.5354T>A (p.Leu1785Gln) c.5357T>A (p.Leu1786Gln) c.5303T>A (p.Leu1768Gln) c.5195T>A (p.Leu1732Gln) c.5258T>A (p.Leu1753Gln) c.5228T>A (p.Leu1743Gln) c.5300T>A (p.Leu1767Gln) | ClinVar dbSNP |
| 3 | g.38551015_38551016del | CA10586350 | SCN5A | c.5353_5354del (p.Leu1785GlufsTer2) c.5356_5357del (p.Leu1786GlufsTer2) c.5302_5303del (p.Leu1768GlufsTer2) c.5194_5195del (p.Leu1732GlufsTer2) c.5257_5258del (p.Leu1753GlufsTer2) c.5227_5228del (p.Leu1743GlufsTer2) c.5299_5300del (p.Leu1767GlufsTer2) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551016G>A | CA433331891 | SCN5A | c.5353C>T (p.Leu1785=) c.5356C>T (p.Leu1786=) c.5302C>T (p.Leu1768=) c.5194C>T (p.Leu1732=) c.5257C>T (p.Leu1753=) c.5227C>T (p.Leu1743=) c.5299C>T (p.Leu1767=) | gnomAD v4 |
| 3 | g.38551016G>C | CA352141319 | SCN5A | c.5353C>G (p.Leu1785Val) c.5356C>G (p.Leu1786Val) c.5302C>G (p.Leu1768Val) c.5194C>G (p.Leu1732Val) c.5257C>G (p.Leu1753Val) c.5227C>G (p.Leu1743Val) c.5299C>G (p.Leu1767Val) | |
| 3 | g.38551016G>T | CA352141322 | SCN5A | c.5353C>A (p.Leu1785Met) c.5356C>A (p.Leu1786Met) c.5302C>A (p.Leu1768Met) c.5194C>A (p.Leu1732Met) c.5257C>A (p.Leu1753Met) c.5227C>A (p.Leu1743Met) c.5299C>A (p.Leu1767Met) | |
| 3 | g.38551017G>A | CA433331893 | SCN5A | c.5352C>T (p.Pro1784=) c.5355C>T (p.Pro1785=) c.5301C>T (p.Pro1767=) c.5193C>T (p.Pro1731=) c.5256C>T (p.Pro1752=) c.5226C>T (p.Pro1742=) c.5298C>T (p.Pro1766=) | |
| 3 | g.38551017G>C | CA433331895 | SCN5A | c.5352C>G (p.Pro1784=) c.5355C>G (p.Pro1785=) c.5301C>G (p.Pro1767=) c.5193C>G (p.Pro1731=) c.5256C>G (p.Pro1752=) c.5226C>G (p.Pro1742=) c.5298C>G (p.Pro1766=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551017G>T | CA433331896 | SCN5A | c.5352C>A (p.Pro1784=) c.5355C>A (p.Pro1785=) c.5301C>A (p.Pro1767=) c.5193C>A (p.Pro1731=) c.5256C>A (p.Pro1752=) c.5226C>A (p.Pro1742=) c.5298C>A (p.Pro1766=) | |
| 3 | g.38551018G>A | CA352141325 | SCN5A | c.5351C>T (p.Pro1784Leu) c.5354C>T (p.Pro1785Leu) c.5300C>T (p.Pro1767Leu) c.5192C>T (p.Pro1731Leu) c.5255C>T (p.Pro1752Leu) c.5225C>T (p.Pro1742Leu) c.5297C>T (p.Pro1766Leu) | ClinVar dbSNP |
| 3 | g.38551018G>C | CA352141329 | SCN5A | c.5351C>G (p.Pro1784Arg) c.5354C>G (p.Pro1785Arg) c.5300C>G (p.Pro1767Arg) c.5192C>G (p.Pro1731Arg) c.5255C>G (p.Pro1752Arg) c.5225C>G (p.Pro1742Arg) c.5297C>G (p.Pro1766Arg) | |
| 3 | g.38551018G= | CA1358557185 | SCN5A | c.5351C= (p.Pro1784=) c.5354C= (p.Pro1785=) c.5300C= (p.Pro1767=) c.5192C= (p.Pro1731=) c.5255C= (p.Pro1752=) c.5225C= (p.Pro1742=) c.5297C= (p.Pro1766=) | |
| 3 | g.38551018G>T | CA72937952 | SCN5A | c.5351C>A (p.Pro1784His) c.5354C>A (p.Pro1785His) c.5300C>A (p.Pro1767His) c.5192C>A (p.Pro1731His) c.5255C>A (p.Pro1752His) c.5225C>A (p.Pro1742His) c.5297C>A (p.Pro1766His) | dbSNP |
| 3 | g.38551019G>A | CA352141331 | SCN5A | c.5350C>T (p.Pro1784Ser) c.5353C>T (p.Pro1785Ser) c.5299C>T (p.Pro1767Ser) c.5191C>T (p.Pro1731Ser) c.5254C>T (p.Pro1752Ser) c.5224C>T (p.Pro1742Ser) c.5296C>T (p.Pro1766Ser) | |
| 3 | g.38551019G>C | CA352141333 | SCN5A | c.5350C>G (p.Pro1784Ala) c.5353C>G (p.Pro1785Ala) c.5299C>G (p.Pro1767Ala) c.5191C>G (p.Pro1731Ala) c.5254C>G (p.Pro1752Ala) c.5224C>G (p.Pro1742Ala) c.5296C>G (p.Pro1766Ala) | |
| 3 | g.38551019G>T | CA352141335 | SCN5A | c.5350C>A (p.Pro1784Thr) c.5353C>A (p.Pro1785Thr) c.5299C>A (p.Pro1767Thr) c.5191C>A (p.Pro1731Thr) c.5254C>A (p.Pro1752Thr) c.5224C>A (p.Pro1742Thr) c.5296C>A (p.Pro1766Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551020C>A | CA352141338 | SCN5A | c.5349G>T (p.Glu1783Asp) c.5352G>T (p.Glu1784Asp) c.5298G>T (p.Glu1766Asp) c.5190G>T (p.Glu1730Asp) c.5253G>T (p.Glu1751Asp) c.5223G>T (p.Glu1741Asp) c.5295G>T (p.Glu1765Asp) | ClinVar dbSNP |
| 3 | g.38551020C= | CA1358557190 | SCN5A | c.5349G= (p.Glu1783=) c.5352G= (p.Glu1784=) c.5298G= (p.Glu1766=) c.5190G= (p.Glu1730=) c.5253G= (p.Glu1751=) c.5223G= (p.Glu1741=) c.5295G= (p.Glu1765=) | |
| 3 | g.38551020C>G | CA352141339 | SCN5A | c.5349G>C (p.Glu1783Asp) c.5352G>C (p.Glu1784Asp) c.5298G>C (p.Glu1766Asp) c.5190G>C (p.Glu1730Asp) c.5253G>C (p.Glu1751Asp) c.5223G>C (p.Glu1741Asp) c.5295G>C (p.Glu1765Asp) | |
| 3 | g.38551020C>T | CA433331907 | SCN5A | c.5349G>A (p.Glu1783=) c.5352G>A (p.Glu1784=) c.5298G>A (p.Glu1766=) c.5190G>A (p.Glu1730=) c.5253G>A (p.Glu1751=) c.5223G>A (p.Glu1741=) c.5295G>A (p.Glu1765=) | dbSNP gnomAD v4 |
| 3 | g.38551021T>A | CA352141343 | SCN5A | c.5348A>T (p.Glu1783Val) c.5351A>T (p.Glu1784Val) c.5297A>T (p.Glu1766Val) c.5189A>T (p.Glu1730Val) c.5252A>T (p.Glu1751Val) c.5222A>T (p.Glu1741Val) c.5294A>T (p.Glu1765Val) | gnomAD v4 |
| 3 | g.38551021T>C | CA352141345 | SCN5A | c.5348A>G (p.Glu1783Gly) c.5351A>G (p.Glu1784Gly) c.5297A>G (p.Glu1766Gly) c.5189A>G (p.Glu1730Gly) c.5252A>G (p.Glu1751Gly) c.5222A>G (p.Glu1741Gly) c.5294A>G (p.Glu1765Gly) | |
| 3 | g.38551021T>G | CA352141347 | SCN5A | c.5348A>C (p.Glu1783Ala) c.5351A>C (p.Glu1784Ala) c.5297A>C (p.Glu1766Ala) c.5189A>C (p.Glu1730Ala) c.5252A>C (p.Glu1751Ala) c.5222A>C (p.Glu1741Ala) c.5294A>C (p.Glu1765Ala) | |
| 3 | g.38551022C>A | CA352141349 | SCN5A | c.5347G>T (p.Glu1783Ter) c.5350G>T (p.Glu1784Ter) c.5296G>T (p.Glu1766Ter) c.5188G>T (p.Glu1730Ter) c.5251G>T (p.Glu1751Ter) c.5221G>T (p.Glu1741Ter) c.5293G>T (p.Glu1765Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551022C= | CA1358557197 | SCN5A | c.5347G= (p.Glu1783=) c.5350G= (p.Glu1784=) c.5296G= (p.Glu1766=) c.5188G= (p.Glu1730=) c.5251G= (p.Glu1751=) c.5221G= (p.Glu1741=) c.5293G= (p.Glu1765=) | |
| 3 | g.38551022C>G | CA352141351 | SCN5A | c.5347G>C (p.Glu1783Gln) c.5350G>C (p.Glu1784Gln) c.5296G>C (p.Glu1766Gln) c.5188G>C (p.Glu1730Gln) c.5251G>C (p.Glu1751Gln) c.5221G>C (p.Glu1741Gln) c.5293G>C (p.Glu1765Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551022C>T | CA019148 | SCN5A | c.5347G>A (p.Glu1783Lys) c.5350G>A (p.Glu1784Lys) c.5296G>A (p.Glu1766Lys) c.5188G>A (p.Glu1730Lys) c.5251G>A (p.Glu1751Lys) c.5221G>A (p.Glu1741Lys) c.5293G>A (p.Glu1765Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551023G>A | CA72937955 | SCN5A | c.5346C>T (p.Thr1782=) c.5349C>T (p.Thr1783=) c.5295C>T (p.Thr1765=) c.5187C>T (p.Thr1729=) c.5250C>T (p.Thr1750=) c.5220C>T (p.Thr1740=) c.5292C>T (p.Thr1764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551023G>C | CA433331909 | SCN5A | c.5346C>G (p.Thr1782=) c.5349C>G (p.Thr1783=) c.5295C>G (p.Thr1765=) c.5187C>G (p.Thr1729=) c.5250C>G (p.Thr1750=) c.5220C>G (p.Thr1740=) c.5292C>G (p.Thr1764=) | |
| 3 | g.38551023G= | CA1358557202 | SCN5A | c.5346C= (p.Thr1782=) c.5349C= (p.Thr1783=) c.5295C= (p.Thr1765=) c.5187C= (p.Thr1729=) c.5250C= (p.Thr1750=) c.5220C= (p.Thr1740=) c.5292C= (p.Thr1764=) | |
| 3 | g.38551023G>T | CA433331911 | SCN5A | c.5346C>A (p.Thr1782=) c.5349C>A (p.Thr1783=) c.5295C>A (p.Thr1765=) c.5187C>A (p.Thr1729=) c.5250C>A (p.Thr1750=) c.5220C>A (p.Thr1740=) c.5292C>A (p.Thr1764=) | |
| 3 | g.38551024G>A | CA352141360 | SCN5A | c.5345C>T (p.Thr1782Ile) c.5348C>T (p.Thr1783Ile) c.5294C>T (p.Thr1765Ile) c.5186C>T (p.Thr1729Ile) c.5249C>T (p.Thr1750Ile) c.5219C>T (p.Thr1740Ile) c.5291C>T (p.Thr1764Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551024G>C | CA019145 | SCN5A | c.5345C>G (p.Thr1782Ser) c.5348C>G (p.Thr1783Ser) c.5294C>G (p.Thr1765Ser) c.5186C>G (p.Thr1729Ser) c.5249C>G (p.Thr1750Ser) c.5219C>G (p.Thr1740Ser) c.5291C>G (p.Thr1764Ser) | ClinVar dbSNP |
| 3 | g.38551024G= | CA1358557210 | SCN5A | c.5345C= (p.Thr1782=) c.5348C= (p.Thr1783=) c.5294C= (p.Thr1765=) c.5186C= (p.Thr1729=) c.5249C= (p.Thr1750=) c.5219C= (p.Thr1740=) c.5291C= (p.Thr1764=) | |
| 3 | g.38551024G>T | CA352141359 | SCN5A | c.5345C>A (p.Thr1782Asn) c.5348C>A (p.Thr1783Asn) c.5294C>A (p.Thr1765Asn) c.5186C>A (p.Thr1729Asn) c.5249C>A (p.Thr1750Asn) c.5219C>A (p.Thr1740Asn) c.5291C>A (p.Thr1764Asn) | |
| 3 | g.38551025T>A | CA352141363 | SCN5A | c.5344A>T (p.Thr1782Ser) c.5347A>T (p.Thr1783Ser) c.5293A>T (p.Thr1765Ser) c.5185A>T (p.Thr1729Ser) c.5248A>T (p.Thr1750Ser) c.5218A>T (p.Thr1740Ser) c.5290A>T (p.Thr1764Ser) | |
| 3 | g.38551025T>C | CA352141365 | SCN5A | c.5344A>G (p.Thr1782Ala) c.5347A>G (p.Thr1783Ala) c.5293A>G (p.Thr1765Ala) c.5185A>G (p.Thr1729Ala) c.5248A>G (p.Thr1750Ala) c.5218A>G (p.Thr1740Ala) c.5290A>G (p.Thr1764Ala) | |
| 3 | g.38551025T>G | CA352141367 | SCN5A | c.5344A>C (p.Thr1782Pro) c.5347A>C (p.Thr1783Pro) c.5293A>C (p.Thr1765Pro) c.5185A>C (p.Thr1729Pro) c.5248A>C (p.Thr1750Pro) c.5218A>C (p.Thr1740Pro) c.5290A>C (p.Thr1764Pro) |