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.38551113G>A | CA433332177 | SCN5A | c.5256C>T (p.Thr1752=) c.5259C>T (p.Thr1753=) c.5205C>T (p.Thr1735=) c.5097C>T (p.Thr1699=) c.5160C>T (p.Thr1720=) c.5130C>T (p.Thr1710=) c.5202C>T (p.Thr1734=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551113G>C | CA433332176 | SCN5A | c.5256C>G (p.Thr1752=) c.5259C>G (p.Thr1753=) c.5205C>G (p.Thr1735=) c.5097C>G (p.Thr1699=) c.5160C>G (p.Thr1720=) c.5130C>G (p.Thr1710=) c.5202C>G (p.Thr1734=) | gnomAD v4 |
| 3 | g.38551113G= | CA1358557360 | SCN5A | c.5256C= (p.Thr1752=) c.5259C= (p.Thr1753=) c.5205C= (p.Thr1735=) c.5097C= (p.Thr1699=) c.5160C= (p.Thr1720=) c.5130C= (p.Thr1710=) c.5202C= (p.Thr1734=) | |
| 3 | g.38551113G>T | CA433332175 | SCN5A | c.5256C>A (p.Thr1752=) c.5259C>A (p.Thr1753=) c.5205C>A (p.Thr1735=) c.5097C>A (p.Thr1699=) c.5160C>A (p.Thr1720=) c.5130C>A (p.Thr1710=) c.5202C>A (p.Thr1734=) | |
| 3 | g.38551114G>A | CA352141746 | SCN5A | c.5255C>T (p.Thr1752Ile) c.5258C>T (p.Thr1753Ile) c.5204C>T (p.Thr1735Ile) c.5096C>T (p.Thr1699Ile) c.5159C>T (p.Thr1720Ile) c.5129C>T (p.Thr1710Ile) c.5201C>T (p.Thr1734Ile) | |
| 3 | g.38551114G>C | CA352141748 | SCN5A | c.5255C>G (p.Thr1752Ser) c.5258C>G (p.Thr1753Ser) c.5204C>G (p.Thr1735Ser) c.5096C>G (p.Thr1699Ser) c.5159C>G (p.Thr1720Ser) c.5129C>G (p.Thr1710Ser) c.5201C>G (p.Thr1734Ser) | |
| 3 | g.38551114G>T | CA352141749 | SCN5A | c.5255C>A (p.Thr1752Asn) c.5258C>A (p.Thr1753Asn) c.5204C>A (p.Thr1735Asn) c.5096C>A (p.Thr1699Asn) c.5159C>A (p.Thr1720Asn) c.5129C>A (p.Thr1710Asn) c.5201C>A (p.Thr1734Asn) | |
| 3 | g.38551115T>A | CA352141751 | SCN5A | c.5254A>T (p.Thr1752Ser) c.5257A>T (p.Thr1753Ser) c.5203A>T (p.Thr1735Ser) c.5095A>T (p.Thr1699Ser) c.5158A>T (p.Thr1720Ser) c.5128A>T (p.Thr1710Ser) c.5200A>T (p.Thr1734Ser) | |
| 3 | g.38551115T>C | CA352141753 | SCN5A | c.5254A>G (p.Thr1752Ala) c.5257A>G (p.Thr1753Ala) c.5203A>G (p.Thr1735Ala) c.5095A>G (p.Thr1699Ala) c.5158A>G (p.Thr1720Ala) c.5128A>G (p.Thr1710Ala) c.5200A>G (p.Thr1734Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551115T>G | CA352141755 | SCN5A | c.5254A>C (p.Thr1752Pro) c.5257A>C (p.Thr1753Pro) c.5203A>C (p.Thr1735Pro) c.5095A>C (p.Thr1699Pro) c.5158A>C (p.Thr1720Pro) c.5128A>C (p.Thr1710Pro) c.5200A>C (p.Thr1734Pro) | |
| 3 | g.38551115T= | CA1358557362 | SCN5A | c.5254A= (p.Thr1752=) c.5257A= (p.Thr1753=) c.5203A= (p.Thr1735=) c.5095A= (p.Thr1699=) c.5158A= (p.Thr1720=) c.5128A= (p.Thr1710=) c.5200A= (p.Thr1734=) | |
| 3 | g.38551116G>A | CA72938013 | SCN5A | c.5253C>T (p.Phe1751=) c.5256C>T (p.Phe1752=) c.5202C>T (p.Phe1734=) c.5094C>T (p.Phe1698=) c.5157C>T (p.Phe1719=) c.5127C>T (p.Phe1709=) c.5199C>T (p.Phe1733=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551116G>C | CA352141757 | SCN5A | c.5253C>G (p.Phe1751Leu) c.5256C>G (p.Phe1752Leu) c.5202C>G (p.Phe1734Leu) c.5094C>G (p.Phe1698Leu) c.5157C>G (p.Phe1719Leu) c.5127C>G (p.Phe1709Leu) c.5199C>G (p.Phe1733Leu) | |
| 3 | g.38551116G= | CA1358557369 | SCN5A | c.5253C= (p.Phe1751=) c.5256C= (p.Phe1752=) c.5202C= (p.Phe1734=) c.5094C= (p.Phe1698=) c.5157C= (p.Phe1719=) c.5127C= (p.Phe1709=) c.5199C= (p.Phe1733=) | |
| 3 | g.38551116G>T | CA352141758 | SCN5A | c.5253C>A (p.Phe1751Leu) c.5256C>A (p.Phe1752Leu) c.5202C>A (p.Phe1734Leu) c.5094C>A (p.Phe1698Leu) c.5157C>A (p.Phe1719Leu) c.5127C>A (p.Phe1709Leu) c.5199C>A (p.Phe1733Leu) | |
| 3 | g.38551121_38551123del | CA2580614204 | SCN5A | c.5251_5253del (p.Phe1751del) c.5254_5256del (p.Phe1752del) c.5200_5202del (p.Phe1734del) c.5092_5094del (p.Phe1698del) c.5155_5157del (p.Phe1719del) c.5125_5127del (p.Phe1709del) c.5197_5199del (p.Phe1733del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551117A>C | CA352141761 | SCN5A | c.5252T>G (p.Phe1751Cys) c.5255T>G (p.Phe1752Cys) c.5201T>G (p.Phe1734Cys) c.5093T>G (p.Phe1698Cys) c.5156T>G (p.Phe1719Cys) c.5126T>G (p.Phe1709Cys) c.5198T>G (p.Phe1733Cys) | |
| 3 | g.38551117A>G | CA352141763 | SCN5A | c.5252T>C (p.Phe1751Ser) c.5255T>C (p.Phe1752Ser) c.5201T>C (p.Phe1734Ser) c.5093T>C (p.Phe1698Ser) c.5156T>C (p.Phe1719Ser) c.5126T>C (p.Phe1709Ser) c.5198T>C (p.Phe1733Ser) | |
| 3 | g.38551117A>T | CA352141765 | SCN5A | c.5252T>A (p.Phe1751Tyr) c.5255T>A (p.Phe1752Tyr) c.5201T>A (p.Phe1734Tyr) c.5093T>A (p.Phe1698Tyr) c.5156T>A (p.Phe1719Tyr) c.5126T>A (p.Phe1709Tyr) c.5198T>A (p.Phe1733Tyr) | |
| 3 | g.38551118A>C | CA352141767 | SCN5A | c.5251T>G (p.Phe1751Val) c.5254T>G (p.Phe1752Val) c.5200T>G (p.Phe1734Val) c.5092T>G (p.Phe1698Val) c.5155T>G (p.Phe1719Val) c.5125T>G (p.Phe1709Val) c.5197T>G (p.Phe1733Val) | ClinVar |
| 3 | g.38551118A>G | CA352141768 | SCN5A | c.5251T>C (p.Phe1751Leu) c.5254T>C (p.Phe1752Leu) c.5200T>C (p.Phe1734Leu) c.5092T>C (p.Phe1698Leu) c.5155T>C (p.Phe1719Leu) c.5125T>C (p.Phe1709Leu) c.5197T>C (p.Phe1733Leu) | |
| 3 | g.38551118A>T | CA352141770 | SCN5A | c.5251T>A (p.Phe1751Ile) c.5254T>A (p.Phe1752Ile) c.5200T>A (p.Phe1734Ile) c.5092T>A (p.Phe1698Ile) c.5155T>A (p.Phe1719Ile) c.5125T>A (p.Phe1709Ile) c.5197T>A (p.Phe1733Ile) | |
| 3 | g.38551119G>A | CA433332193 | SCN5A | c.5250C>T (p.Phe1750=) c.5253C>T (p.Phe1751=) c.5199C>T (p.Phe1733=) c.5091C>T (p.Phe1697=) c.5154C>T (p.Phe1718=) c.5124C>T (p.Phe1708=) c.5196C>T (p.Phe1732=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551119G>C | CA352141773 | SCN5A | c.5250C>G (p.Phe1750Leu) c.5253C>G (p.Phe1751Leu) c.5199C>G (p.Phe1733Leu) c.5091C>G (p.Phe1697Leu) c.5154C>G (p.Phe1718Leu) c.5124C>G (p.Phe1708Leu) c.5196C>G (p.Phe1732Leu) | |
| 3 | g.38551119G= | CA1358557374 | SCN5A | c.5250C= (p.Phe1750=) c.5253C= (p.Phe1751=) c.5199C= (p.Phe1733=) c.5091C= (p.Phe1697=) c.5154C= (p.Phe1718=) c.5124C= (p.Phe1708=) c.5196C= (p.Phe1732=) | |
| 3 | g.38551119G>T | CA352141771 | SCN5A | c.5250C>A (p.Phe1750Leu) c.5253C>A (p.Phe1751Leu) c.5199C>A (p.Phe1733Leu) c.5091C>A (p.Phe1697Leu) c.5154C>A (p.Phe1718Leu) c.5124C>A (p.Phe1708Leu) c.5196C>A (p.Phe1732Leu) | |
| 3 | g.38551120A>C | CA352141774 | SCN5A | c.5249T>G (p.Phe1750Cys) c.5252T>G (p.Phe1751Cys) c.5198T>G (p.Phe1733Cys) c.5090T>G (p.Phe1697Cys) c.5153T>G (p.Phe1718Cys) c.5123T>G (p.Phe1708Cys) c.5195T>G (p.Phe1732Cys) | |
| 3 | g.38551120A>G | CA352141775 | SCN5A | c.5249T>C (p.Phe1750Ser) c.5252T>C (p.Phe1751Ser) c.5198T>C (p.Phe1733Ser) c.5090T>C (p.Phe1697Ser) c.5153T>C (p.Phe1718Ser) c.5123T>C (p.Phe1708Ser) c.5195T>C (p.Phe1732Ser) | |
| 3 | g.38551120A>T | CA352141777 | SCN5A | c.5249T>A (p.Phe1750Tyr) c.5252T>A (p.Phe1751Tyr) c.5198T>A (p.Phe1733Tyr) c.5090T>A (p.Phe1697Tyr) c.5153T>A (p.Phe1718Tyr) c.5123T>A (p.Phe1708Tyr) c.5195T>A (p.Phe1732Tyr) | |
| 3 | g.38551121A>C | CA352141779 | SCN5A | c.5248T>G (p.Phe1750Val) c.5251T>G (p.Phe1751Val) c.5197T>G (p.Phe1733Val) c.5089T>G (p.Phe1697Val) c.5152T>G (p.Phe1718Val) c.5122T>G (p.Phe1708Val) c.5194T>G (p.Phe1732Val) | |
| 3 | g.38551121A>G | CA352141781 | SCN5A | c.5248T>C (p.Phe1750Leu) c.5251T>C (p.Phe1751Leu) c.5197T>C (p.Phe1733Leu) c.5089T>C (p.Phe1697Leu) c.5152T>C (p.Phe1718Leu) c.5122T>C (p.Phe1708Leu) c.5194T>C (p.Phe1732Leu) | |
| 3 | g.38551121A>T | CA352141783 | SCN5A | c.5248T>A (p.Phe1750Ile) c.5251T>A (p.Phe1751Ile) c.5197T>A (p.Phe1733Ile) c.5089T>A (p.Phe1697Ile) c.5152T>A (p.Phe1718Ile) c.5122T>A (p.Phe1708Ile) c.5194T>A (p.Phe1732Ile) | |
| 3 | g.38551122G>A | CA433332202 | SCN5A | c.5247C>T (p.Leu1749=) c.5250C>T (p.Leu1750=) c.5196C>T (p.Leu1732=) c.5088C>T (p.Leu1696=) c.5151C>T (p.Leu1717=) c.5121C>T (p.Leu1707=) c.5193C>T (p.Leu1731=) | |
| 3 | g.38551122G>C | CA433332203 | SCN5A | c.5247C>G (p.Leu1749=) c.5250C>G (p.Leu1750=) c.5196C>G (p.Leu1732=) c.5088C>G (p.Leu1696=) c.5151C>G (p.Leu1717=) c.5121C>G (p.Leu1707=) c.5193C>G (p.Leu1731=) | |
| 3 | g.38551122G>T | CA433332204 | SCN5A | c.5247C>A (p.Leu1749=) c.5250C>A (p.Leu1750=) c.5196C>A (p.Leu1732=) c.5088C>A (p.Leu1696=) c.5151C>A (p.Leu1717=) c.5121C>A (p.Leu1707=) c.5193C>A (p.Leu1731=) | ClinVar |
| 3 | g.38551123A>C | CA352141785 | SCN5A | c.5246T>G (p.Leu1749Arg) c.5249T>G (p.Leu1750Arg) c.5195T>G (p.Leu1732Arg) c.5087T>G (p.Leu1696Arg) c.5150T>G (p.Leu1717Arg) c.5120T>G (p.Leu1707Arg) c.5192T>G (p.Leu1731Arg) | |
| 3 | g.38551123A>G | CA352141789 | SCN5A | c.5246T>C (p.Leu1749Pro) c.5249T>C (p.Leu1750Pro) c.5195T>C (p.Leu1732Pro) c.5087T>C (p.Leu1696Pro) c.5150T>C (p.Leu1717Pro) c.5120T>C (p.Leu1707Pro) c.5192T>C (p.Leu1731Pro) | |
| 3 | g.38551123A>T | CA352141787 | SCN5A | c.5246T>A (p.Leu1749His) c.5249T>A (p.Leu1750His) c.5195T>A (p.Leu1732His) c.5087T>A (p.Leu1696His) c.5150T>A (p.Leu1717His) c.5120T>A (p.Leu1707His) c.5192T>A (p.Leu1731His) | |
| 3 | g.38551124G>A | CA352141791 | SCN5A | c.5245C>T (p.Leu1749Phe) c.5248C>T (p.Leu1750Phe) c.5194C>T (p.Leu1732Phe) c.5086C>T (p.Leu1696Phe) c.5149C>T (p.Leu1717Phe) c.5119C>T (p.Leu1707Phe) c.5191C>T (p.Leu1731Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551124G>C | CA352141793 | SCN5A | c.5245C>G (p.Leu1749Val) c.5248C>G (p.Leu1750Val) c.5194C>G (p.Leu1732Val) c.5086C>G (p.Leu1696Val) c.5149C>G (p.Leu1717Val) c.5119C>G (p.Leu1707Val) c.5191C>G (p.Leu1731Val) | |
| 3 | g.38551124G= | CA1358557377 | SCN5A | c.5245C= (p.Leu1749=) c.5248C= (p.Leu1750=) c.5194C= (p.Leu1732=) c.5086C= (p.Leu1696=) c.5149C= (p.Leu1717=) c.5119C= (p.Leu1707=) c.5191C= (p.Leu1731=) | |
| 3 | g.38551124G>T | CA72938014 | SCN5A | c.5245C>A (p.Leu1749Ile) c.5248C>A (p.Leu1750Ile) c.5194C>A (p.Leu1732Ile) c.5086C>A (p.Leu1696Ile) c.5149C>A (p.Leu1717Ile) c.5119C>A (p.Leu1707Ile) c.5191C>A (p.Leu1731Ile) | dbSNP gnomAD v4 |
| 3 | g.38551125G>A | CA433332209 | SCN5A | c.5244C>T (p.Ile1748=) c.5247C>T (p.Ile1749=) c.5193C>T (p.Ile1731=) c.5085C>T (p.Ile1695=) c.5148C>T (p.Ile1716=) c.5118C>T (p.Ile1706=) c.5190C>T (p.Ile1730=) | |
| 3 | g.38551125G>C | CA352141795 | SCN5A | c.5244C>G (p.Ile1748Met) c.5247C>G (p.Ile1749Met) c.5193C>G (p.Ile1731Met) c.5085C>G (p.Ile1695Met) c.5148C>G (p.Ile1716Met) c.5118C>G (p.Ile1706Met) c.5190C>G (p.Ile1730Met) | |
| 3 | g.38551125G>T | CA433332210 | SCN5A | c.5244C>A (p.Ile1748=) c.5247C>A (p.Ile1749=) c.5193C>A (p.Ile1731=) c.5085C>A (p.Ile1695=) c.5148C>A (p.Ile1716=) c.5118C>A (p.Ile1706=) c.5190C>A (p.Ile1730=) | |
| 3 | g.38551126A>C | CA352141797 | SCN5A | c.5243T>G (p.Ile1748Ser) c.5246T>G (p.Ile1749Ser) c.5192T>G (p.Ile1731Ser) c.5084T>G (p.Ile1695Ser) c.5147T>G (p.Ile1716Ser) c.5117T>G (p.Ile1706Ser) c.5189T>G (p.Ile1730Ser) | |
| 3 | g.38551126A>G | CA352141799 | SCN5A | c.5243T>C (p.Ile1748Thr) c.5246T>C (p.Ile1749Thr) c.5192T>C (p.Ile1731Thr) c.5084T>C (p.Ile1695Thr) c.5147T>C (p.Ile1716Thr) c.5117T>C (p.Ile1706Thr) c.5189T>C (p.Ile1730Thr) | |
| 3 | g.38551126A>T | CA352141801 | SCN5A | c.5243T>A (p.Ile1748Asn) c.5246T>A (p.Ile1749Asn) c.5192T>A (p.Ile1731Asn) c.5084T>A (p.Ile1695Asn) c.5147T>A (p.Ile1716Asn) c.5117T>A (p.Ile1706Asn) c.5189T>A (p.Ile1730Asn) | |
| 3 | g.38551127T>A | CA352141803 | SCN5A | c.5242A>T (p.Ile1748Phe) c.5245A>T (p.Ile1749Phe) c.5191A>T (p.Ile1731Phe) c.5083A>T (p.Ile1695Phe) c.5146A>T (p.Ile1716Phe) c.5116A>T (p.Ile1706Phe) c.5188A>T (p.Ile1730Phe) | |
| 3 | g.38551127T>C | CA352141805 | SCN5A | c.5242A>G (p.Ile1748Val) c.5245A>G (p.Ile1749Val) c.5191A>G (p.Ile1731Val) c.5083A>G (p.Ile1695Val) c.5146A>G (p.Ile1716Val) c.5116A>G (p.Ile1706Val) c.5188A>G (p.Ile1730Val) | dbSNP |