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.38551076T>A | CA352141606 | SCN5A | c.5293A>T (p.Met1765Leu) c.5296A>T (p.Met1766Leu) c.5242A>T (p.Met1748Leu) c.5134A>T (p.Met1712Leu) c.5197A>T (p.Met1733Leu) c.5167A>T (p.Met1723Leu) c.5239A>T (p.Met1747Leu) | ClinVar dbSNP |
| 3 | g.38551076T>C | CA352141607 | SCN5A | c.5293A>G (p.Met1765Val) c.5296A>G (p.Met1766Val) c.5242A>G (p.Met1748Val) c.5134A>G (p.Met1712Val) c.5197A>G (p.Met1733Val) c.5167A>G (p.Met1723Val) c.5239A>G (p.Met1747Val) | ClinVar dbSNP |
| 3 | g.38551076T>G | CA019076 | SCN5A | c.5293A>C (p.Met1765Leu) c.5296A>C (p.Met1766Leu) c.5242A>C (p.Met1748Leu) c.5134A>C (p.Met1712Leu) c.5197A>C (p.Met1733Leu) c.5167A>C (p.Met1723Leu) c.5239A>C (p.Met1747Leu) | ClinVar dbSNP |
| 3 | g.38551076T= | CA1358557311 | SCN5A | c.5293A= (p.Met1765=) c.5296A= (p.Met1766=) c.5242A= (p.Met1748=) c.5134A= (p.Met1712=) c.5197A= (p.Met1733=) c.5167A= (p.Met1723=) c.5239A= (p.Met1747=) | |
| 3 | g.38551077G>A | CA433332108 | SCN5A | c.5292C>T (p.Asn1764=) c.5295C>T (p.Asn1765=) c.5241C>T (p.Asn1747=) c.5133C>T (p.Asn1711=) c.5196C>T (p.Asn1732=) c.5166C>T (p.Asn1722=) c.5238C>T (p.Asn1746=) | ClinVar |
| 3 | g.38551077G>C | CA352141610 | SCN5A | c.5292C>G (p.Asn1764Lys) c.5295C>G (p.Asn1765Lys) c.5241C>G (p.Asn1747Lys) c.5133C>G (p.Asn1711Lys) c.5196C>G (p.Asn1732Lys) c.5166C>G (p.Asn1722Lys) c.5238C>G (p.Asn1746Lys) | |
| 3 | g.38551077G>T | CA352141611 | SCN5A | c.5292C>A (p.Asn1764Lys) c.5295C>A (p.Asn1765Lys) c.5241C>A (p.Asn1747Lys) c.5133C>A (p.Asn1711Lys) c.5196C>A (p.Asn1732Lys) c.5166C>A (p.Asn1722Lys) c.5238C>A (p.Asn1746Lys) | |
| 3 | g.38551078T>A | CA352141612 | SCN5A | c.5291A>T (p.Asn1764Ile) c.5294A>T (p.Asn1765Ile) c.5240A>T (p.Asn1747Ile) c.5132A>T (p.Asn1711Ile) c.5195A>T (p.Asn1732Ile) c.5165A>T (p.Asn1722Ile) c.5237A>T (p.Asn1746Ile) | |
| 3 | g.38551078T>C | CA352141613 | SCN5A | c.5291A>G (p.Asn1764Ser) c.5294A>G (p.Asn1765Ser) c.5240A>G (p.Asn1747Ser) c.5132A>G (p.Asn1711Ser) c.5195A>G (p.Asn1732Ser) c.5165A>G (p.Asn1722Ser) c.5237A>G (p.Asn1746Ser) | ClinVar |
| 3 | g.38551078T>G | CA352141614 | SCN5A | c.5291A>C (p.Asn1764Thr) c.5294A>C (p.Asn1765Thr) c.5240A>C (p.Asn1747Thr) c.5132A>C (p.Asn1711Thr) c.5195A>C (p.Asn1732Thr) c.5165A>C (p.Asn1722Thr) c.5237A>C (p.Asn1746Thr) | |
| 3 | g.38551079T>A | CA352141615 | SCN5A | c.5290A>T (p.Asn1764Tyr) c.5293A>T (p.Asn1765Tyr) c.5239A>T (p.Asn1747Tyr) c.5131A>T (p.Asn1711Tyr) c.5194A>T (p.Asn1732Tyr) c.5164A>T (p.Asn1722Tyr) c.5236A>T (p.Asn1746Tyr) | |
| 3 | g.38551079T>C | CA352141616 | SCN5A | c.5290A>G (p.Asn1764Asp) c.5293A>G (p.Asn1765Asp) c.5239A>G (p.Asn1747Asp) c.5131A>G (p.Asn1711Asp) c.5194A>G (p.Asn1732Asp) c.5164A>G (p.Asn1722Asp) c.5236A>G (p.Asn1746Asp) | |
| 3 | g.38551079T>G | CA352141618 | SCN5A | c.5290A>C (p.Asn1764His) c.5293A>C (p.Asn1765His) c.5239A>C (p.Asn1747His) c.5131A>C (p.Asn1711His) c.5194A>C (p.Asn1732His) c.5164A>C (p.Asn1722His) c.5236A>C (p.Asn1746His) | |
| 3 | g.38551080G>A | CA433332111 | SCN5A | c.5289C>T (p.Val1763=) c.5292C>T (p.Val1764=) c.5238C>T (p.Val1746=) c.5130C>T (p.Val1710=) c.5193C>T (p.Val1731=) c.5163C>T (p.Val1721=) c.5235C>T (p.Val1745=) | ClinVar dbSNP |
| 3 | g.38551080G>C | CA433332112 | SCN5A | c.5289C>G (p.Val1763=) c.5292C>G (p.Val1764=) c.5238C>G (p.Val1746=) c.5130C>G (p.Val1710=) c.5193C>G (p.Val1731=) c.5163C>G (p.Val1721=) c.5235C>G (p.Val1745=) | |
| 3 | g.38551080G= | CA1358557314 | SCN5A | c.5289C= (p.Val1763=) c.5292C= (p.Val1764=) c.5238C= (p.Val1746=) c.5130C= (p.Val1710=) c.5193C= (p.Val1731=) c.5163C= (p.Val1721=) c.5235C= (p.Val1745=) | |
| 3 | g.38551080G>T | CA433332114 | SCN5A | c.5289C>A (p.Val1763=) c.5292C>A (p.Val1764=) c.5238C>A (p.Val1746=) c.5130C>A (p.Val1710=) c.5193C>A (p.Val1731=) c.5163C>A (p.Val1721=) c.5235C>A (p.Val1745=) | |
| 3 | g.38551081A>C | CA352141623 | SCN5A | c.5288T>G (p.Val1763Gly) c.5291T>G (p.Val1764Gly) c.5237T>G (p.Val1746Gly) c.5129T>G (p.Val1710Gly) c.5192T>G (p.Val1731Gly) c.5162T>G (p.Val1721Gly) c.5234T>G (p.Val1745Gly) | |
| 3 | g.38551081A>G | CA352141622 | SCN5A | c.5288T>C (p.Val1763Ala) c.5291T>C (p.Val1764Ala) c.5237T>C (p.Val1746Ala) c.5129T>C (p.Val1710Ala) c.5192T>C (p.Val1731Ala) c.5162T>C (p.Val1721Ala) c.5234T>C (p.Val1745Ala) | |
| 3 | g.38551081A>T | CA352141620 | SCN5A | c.5288T>A (p.Val1763Asp) c.5291T>A (p.Val1764Asp) c.5237T>A (p.Val1746Asp) c.5129T>A (p.Val1710Asp) c.5192T>A (p.Val1731Asp) c.5162T>A (p.Val1721Asp) c.5234T>A (p.Val1745Asp) | |
| 3 | g.38551082C>A | CA019066 | SCN5A | c.5287G>T (p.Val1763Phe) c.5290G>T (p.Val1764Phe) c.5236G>T (p.Val1746Phe) c.5128G>T (p.Val1710Phe) c.5191G>T (p.Val1731Phe) c.5161G>T (p.Val1721Phe) c.5233G>T (p.Val1745Phe) | ClinVar dbSNP |
| 3 | g.38551082C= | CA1358557316 | SCN5A | c.5287G= (p.Val1763=) c.5290G= (p.Val1764=) c.5236G= (p.Val1746=) c.5128G= (p.Val1710=) c.5191G= (p.Val1731=) c.5161G= (p.Val1721=) c.5233G= (p.Val1745=) | |
| 3 | g.38551082C>G | CA352141625 | SCN5A | c.5287G>C (p.Val1763Leu) c.5290G>C (p.Val1764Leu) c.5236G>C (p.Val1746Leu) c.5128G>C (p.Val1710Leu) c.5191G>C (p.Val1731Leu) c.5161G>C (p.Val1721Leu) c.5233G>C (p.Val1745Leu) | gnomAD v4 |
| 3 | g.38551082C>T | CA352141627 | SCN5A | c.5287G>A (p.Val1763Ile) c.5290G>A (p.Val1764Ile) c.5236G>A (p.Val1746Ile) c.5128G>A (p.Val1710Ile) c.5191G>A (p.Val1731Ile) c.5161G>A (p.Val1721Ile) c.5233G>A (p.Val1745Ile) | |
| 3 | g.38551083del | CA2586965791 | SCN5A | c.5287del (p.Val1763SerfsTer23) c.5290del (p.Val1764SerfsTer23) c.5236del (p.Val1746SerfsTer23) c.5128del (p.Val1710SerfsTer23) c.5191del (p.Val1731SerfsTer23) c.5161del (p.Val1721SerfsTer23) c.5233del (p.Val1745SerfsTer23) | |
| 3 | g.38551083C>A | CA433332123 | SCN5A | c.5286G>T (p.Val1762=) c.5289G>T (p.Val1763=) c.5235G>T (p.Val1745=) c.5127G>T (p.Val1709=) c.5190G>T (p.Val1730=) c.5160G>T (p.Val1720=) c.5232G>T (p.Val1744=) | |
| 3 | g.38551083C>G | CA433332122 | SCN5A | c.5286G>C (p.Val1762=) c.5289G>C (p.Val1763=) c.5235G>C (p.Val1745=) c.5127G>C (p.Val1709=) c.5190G>C (p.Val1730=) c.5160G>C (p.Val1720=) c.5232G>C (p.Val1744=) | |
| 3 | g.38551083C>T | CA433332120 | SCN5A | c.5286G>A (p.Val1762=) c.5289G>A (p.Val1763=) c.5235G>A (p.Val1745=) c.5127G>A (p.Val1709=) c.5190G>A (p.Val1730=) c.5160G>A (p.Val1720=) c.5232G>A (p.Val1744=) | |
| 3 | g.38551084A>C | CA352141628 | SCN5A | c.5285T>G (p.Val1762Gly) c.5288T>G (p.Val1763Gly) c.5234T>G (p.Val1745Gly) c.5126T>G (p.Val1709Gly) c.5189T>G (p.Val1730Gly) c.5159T>G (p.Val1720Gly) c.5231T>G (p.Val1744Gly) | |
| 3 | g.38551084A>G | CA352141631 | SCN5A | c.5285T>C (p.Val1762Ala) c.5288T>C (p.Val1763Ala) c.5234T>C (p.Val1745Ala) c.5126T>C (p.Val1709Ala) c.5189T>C (p.Val1730Ala) c.5159T>C (p.Val1720Ala) c.5231T>C (p.Val1744Ala) | |
| 3 | g.38551084A>T | CA352141632 | SCN5A | c.5285T>A (p.Val1762Glu) c.5288T>A (p.Val1763Glu) c.5234T>A (p.Val1745Glu) c.5126T>A (p.Val1709Glu) c.5189T>A (p.Val1730Glu) c.5159T>A (p.Val1720Glu) c.5231T>A (p.Val1744Glu) | |
| 3 | g.38551085C>A | CA352141634 | SCN5A | c.5284G>T (p.Val1762Leu) c.5287G>T (p.Val1763Leu) c.5233G>T (p.Val1745Leu) c.5125G>T (p.Val1709Leu) c.5188G>T (p.Val1730Leu) c.5158G>T (p.Val1720Leu) c.5230G>T (p.Val1744Leu) | |
| 3 | g.38551085C= | CA1358557319 | SCN5A | c.5284G= (p.Val1762=) c.5287G= (p.Val1763=) c.5233G= (p.Val1745=) c.5125G= (p.Val1709=) c.5188G= (p.Val1730=) c.5158G= (p.Val1720=) c.5230G= (p.Val1744=) | |
| 3 | g.38551085C>G | CA352141636 | SCN5A | c.5284G>C (p.Val1762Leu) c.5287G>C (p.Val1763Leu) c.5233G>C (p.Val1745Leu) c.5125G>C (p.Val1709Leu) c.5188G>C (p.Val1730Leu) c.5158G>C (p.Val1720Leu) c.5230G>C (p.Val1744Leu) | |
| 3 | g.38551085C>T | CA019062 | SCN5A | c.5284G>A (p.Val1762Met) c.5287G>A (p.Val1763Met) c.5233G>A (p.Val1745Met) c.5125G>A (p.Val1709Met) c.5188G>A (p.Val1730Met) c.5158G>A (p.Val1720Met) c.5230G>A (p.Val1744Met) | ClinVar dbSNP |
| 3 | g.38551086G>A | CA064293 | SCN5A | c.5283C>T (p.Ile1761=) c.5286C>T (p.Ile1762=) c.5232C>T (p.Ile1744=) c.5124C>T (p.Ile1708=) c.5187C>T (p.Ile1729=) c.5157C>T (p.Ile1719=) c.5229C>T (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551086G>C | CA352141640 | SCN5A | c.5283C>G (p.Ile1761Met) c.5286C>G (p.Ile1762Met) c.5232C>G (p.Ile1744Met) c.5124C>G (p.Ile1708Met) c.5187C>G (p.Ile1729Met) c.5157C>G (p.Ile1719Met) c.5229C>G (p.Ile1743Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551086G= | CA1358557327 | SCN5A | c.5283C= (p.Ile1761=) c.5286C= (p.Ile1762=) c.5232C= (p.Ile1744=) c.5124C= (p.Ile1708=) c.5187C= (p.Ile1729=) c.5157C= (p.Ile1719=) c.5229C= (p.Ile1743=) | |
| 3 | g.38551086G>T | CA064288 | SCN5A | c.5283C>A (p.Ile1761=) c.5286C>A (p.Ile1762=) c.5232C>A (p.Ile1744=) c.5124C>A (p.Ile1708=) c.5187C>A (p.Ile1729=) c.5157C>A (p.Ile1719=) c.5229C>A (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551086_38551087delinsGA | CA1358557324 | SCN5A | c.5282_5283delinsTC (p.Ile1761=) c.5285_5286delinsTC (p.Ile1762=) c.5231_5232delinsTC (p.Ile1744=) c.5123_5124delinsTC (p.Ile1708=) c.5186_5187delinsTC (p.Ile1729=) c.5156_5157delinsTC (p.Ile1719=) c.5228_5229delinsTC (p.Ile1743=) | |
| 3 | g.38551087del | CA10588359 | SCN5A | c.5282del (p.Ile1761ThrfsTer25) c.5285del (p.Ile1762ThrfsTer25) c.5231del (p.Ile1744ThrfsTer25) c.5123del (p.Ile1708ThrfsTer25) c.5186del (p.Ile1729ThrfsTer25) c.5156del (p.Ile1719ThrfsTer25) c.5228del (p.Ile1743ThrfsTer25) | ClinVar dbSNP |
| 3 | g.38551087A>C | CA352141642 | SCN5A | c.5282T>G (p.Ile1761Ser) c.5285T>G (p.Ile1762Ser) c.5231T>G (p.Ile1744Ser) c.5123T>G (p.Ile1708Ser) c.5186T>G (p.Ile1729Ser) c.5156T>G (p.Ile1719Ser) c.5228T>G (p.Ile1743Ser) | |
| 3 | g.38551087A>G | CA352141643 | SCN5A | c.5282T>C (p.Ile1761Thr) c.5285T>C (p.Ile1762Thr) c.5231T>C (p.Ile1744Thr) c.5123T>C (p.Ile1708Thr) c.5186T>C (p.Ile1729Thr) c.5156T>C (p.Ile1719Thr) c.5228T>C (p.Ile1743Thr) | |
| 3 | g.38551087A>T | CA352141645 | SCN5A | c.5282T>A (p.Ile1761Asn) c.5285T>A (p.Ile1762Asn) c.5231T>A (p.Ile1744Asn) c.5123T>A (p.Ile1708Asn) c.5186T>A (p.Ile1729Asn) c.5156T>A (p.Ile1719Asn) c.5228T>A (p.Ile1743Asn) | |
| 3 | g.38551088T>A | CA352141653 | SCN5A | c.5281A>T (p.Ile1761Phe) c.5284A>T (p.Ile1762Phe) c.5230A>T (p.Ile1744Phe) c.5122A>T (p.Ile1708Phe) c.5185A>T (p.Ile1729Phe) c.5155A>T (p.Ile1719Phe) c.5227A>T (p.Ile1743Phe) | gnomAD v4 |
| 3 | g.38551088T>C | CA352141649 | SCN5A | c.5281A>G (p.Ile1761Val) c.5284A>G (p.Ile1762Val) c.5230A>G (p.Ile1744Val) c.5122A>G (p.Ile1708Val) c.5185A>G (p.Ile1729Val) c.5155A>G (p.Ile1719Val) c.5227A>G (p.Ile1743Val) | |
| 3 | g.38551088T>G | CA352141651 | SCN5A | c.5281A>C (p.Ile1761Leu) c.5284A>C (p.Ile1762Leu) c.5230A>C (p.Ile1744Leu) c.5122A>C (p.Ile1708Leu) c.5185A>C (p.Ile1729Leu) c.5155A>C (p.Ile1719Leu) c.5227A>C (p.Ile1743Leu) | |
| 3 | g.38551089G>A | CA433332132 | SCN5A | c.5280C>T (p.Leu1760=) c.5283C>T (p.Leu1761=) c.5229C>T (p.Leu1743=) c.5121C>T (p.Leu1707=) c.5184C>T (p.Leu1728=) c.5154C>T (p.Leu1718=) c.5226C>T (p.Leu1742=) | |
| 3 | g.38551089G>C | CA433332131 | SCN5A | c.5280C>G (p.Leu1760=) c.5283C>G (p.Leu1761=) c.5229C>G (p.Leu1743=) c.5121C>G (p.Leu1707=) c.5184C>G (p.Leu1728=) c.5154C>G (p.Leu1718=) c.5226C>G (p.Leu1742=) | |
| 3 | g.38551089G>T | CA433332133 | SCN5A | c.5280C>A (p.Leu1760=) c.5283C>A (p.Leu1761=) c.5229C>A (p.Leu1743=) c.5121C>A (p.Leu1707=) c.5184C>A (p.Leu1728=) c.5154C>A (p.Leu1718=) c.5226C>A (p.Leu1742=) |