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.38603971G>A | CA352147079 | SCN5A | c.1631C>T (p.Ala544Val) c.1502C>T (p.Ala501Val) | |
| 3 | g.38603971G>C | CA352147080 | SCN5A | c.1631C>G (p.Ala544Gly) c.1502C>G (p.Ala501Gly) | |
| 3 | g.38603971G>T | CA352147082 | SCN5A | c.1631C>A (p.Ala544Glu) c.1502C>A (p.Ala501Glu) | |
| 3 | g.38603972C>A | CA352147083 | SCN5A | c.1630G>T (p.Ala544Ser) c.1501G>T (p.Ala501Ser) | |
| 3 | g.38603972C>G | CA352147085 | SCN5A | c.1630G>C (p.Ala544Pro) c.1501G>C (p.Ala501Pro) | |
| 3 | g.38603972C>T | CA352147087 | SCN5A | c.1630G>A (p.Ala544Thr) c.1501G>A (p.Ala501Thr) | |
| 3 | g.38603973A= | CA1358584995 | SCN5A | c.1629T= (p.Phe543=) c.1500T= (p.Phe500=) | |
| 3 | g.38603973A>C | CA352147091 | SCN5A | c.1629T>G (p.Phe543Leu) c.1500T>G (p.Phe500Leu) | |
| 3 | g.38603973A>G | CA433333148 | SCN5A | c.1629T>C (p.Phe543=) c.1500T>C (p.Phe500=) | |
| 3 | g.38603973A>T | CA015078 | SCN5A | c.1629T>A (p.Phe543Leu) c.1500T>A (p.Phe500Leu) | ClinVar dbSNP |
| 3 | g.38603974A>C | CA352147094 | SCN5A | c.1628T>G (p.Phe543Cys) c.1499T>G (p.Phe500Cys) | |
| 3 | g.38603974A>G | CA352147095 | SCN5A | c.1628T>C (p.Phe543Ser) c.1499T>C (p.Phe500Ser) | ClinVar dbSNP |
| 3 | g.38603974A>T | CA352147097 | SCN5A | c.1628T>A (p.Phe543Tyr) c.1499T>A (p.Phe500Tyr) | |
| 3 | g.38603975A>C | CA352147099 | SCN5A | c.1627T>G (p.Phe543Val) c.1498T>G (p.Phe500Val) | |
| 3 | g.38603975A>G | CA352147101 | SCN5A | c.1627T>C (p.Phe543Leu) c.1498T>C (p.Phe500Leu) | |
| 3 | g.38603975A>T | CA352147103 | SCN5A | c.1627T>A (p.Phe543Ile) c.1498T>A (p.Phe500Ile) | |
| 3 | g.38603976A>C | CA352147106 | SCN5A | c.1626T>G (p.Asp542Glu) c.1497T>G (p.Asp499Glu) | |
| 3 | g.38603976A>G | CA433333150 | SCN5A | c.1626T>C (p.Asp542=) c.1497T>C (p.Asp499=) | ClinVar gnomAD v4 |
| 3 | g.38603976A>T | CA352147109 | SCN5A | c.1626T>A (p.Asp542Glu) c.1497T>A (p.Asp499Glu) | |
| 3 | g.38603977T>A | CA352147112 | SCN5A | c.1625A>T (p.Asp542Val) c.1496A>T (p.Asp499Val) | gnomAD v4 |
| 3 | g.38603977T>C | CA352147113 | SCN5A | c.1625A>G (p.Asp542Gly) c.1496A>G (p.Asp499Gly) | |
| 3 | g.38603977T>G | CA352147116 | SCN5A | c.1625A>C (p.Asp542Ala) c.1496A>C (p.Asp499Ala) | |
| 3 | g.38603978C>A | CA352147120 | SCN5A | c.1624G>T (p.Asp542Tyr) c.1495G>T (p.Asp499Tyr) | |
| 3 | g.38603978C>G | CA352147123 | SCN5A | c.1624G>C (p.Asp542His) c.1495G>C (p.Asp499His) | |
| 3 | g.38603978C>T | CA352147124 | SCN5A | c.1624G>A (p.Asp542Asn) c.1495G>A (p.Asp499Asn) | gnomAD v4 |
| 3 | g.38603979T>A | CA433333152 | SCN5A | c.1623A>T (p.Ala541=) c.1494A>T (p.Ala498=) | |
| 3 | g.38603979T>C | CA433333153 | SCN5A | c.1623A>G (p.Ala541=) c.1494A>G (p.Ala498=) | |
| 3 | g.38603979T>G | CA433333154 | SCN5A | c.1623A>C (p.Ala541=) c.1494A>C (p.Ala498=) | |
| 3 | g.38603980G>A | CA352147129 | SCN5A | c.1622C>T (p.Ala541Val) c.1493C>T (p.Ala498Val) | |
| 3 | g.38603980G>C | CA352147131 | SCN5A | c.1622C>G (p.Ala541Gly) c.1493C>G (p.Ala498Gly) | |
| 3 | g.38603980G>T | CA352147128 | SCN5A | c.1622C>A (p.Ala541Glu) c.1493C>A (p.Ala498Glu) | gnomAD v4 |
| 3 | g.38603981C>A | CA352147133 | SCN5A | c.1621G>T (p.Ala541Ser) c.1492G>T (p.Ala498Ser) | |
| 3 | g.38603981C>G | CA352147139 | SCN5A | c.1621G>C (p.Ala541Pro) c.1492G>C (p.Ala498Pro) | gnomAD v4 |
| 3 | g.38603981C>T | CA352147135 | SCN5A | c.1621G>A (p.Ala541Thr) c.1492G>A (p.Ala498Thr) | ClinVar |
| 3 | g.38603982T>A | CA352147142 | SCN5A | c.1620A>T (p.Glu540Asp) c.1491A>T (p.Glu497Asp) | |
| 3 | g.38603982T>C | CA433333156 | SCN5A | c.1620A>G (p.Glu540=) c.1491A>G (p.Glu497=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603982T>G | CA352147145 | SCN5A | c.1620A>C (p.Glu540Asp) c.1491A>C (p.Glu497Asp) | |
| 3 | g.38603983T>A | CA352147147 | SCN5A | c.1619A>T (p.Glu540Val) c.1490A>T (p.Glu497Val) | |
| 3 | g.38603983T>C | CA352147148 | SCN5A | c.1619A>G (p.Glu540Gly) c.1490A>G (p.Glu497Gly) | |
| 3 | g.38603983T>G | CA352147150 | SCN5A | c.1619A>C (p.Glu540Ala) c.1490A>C (p.Glu497Ala) | |
| 3 | g.38603984C>A | CA352147152 | SCN5A | c.1618G>T (p.Glu540Ter) c.1489G>T (p.Glu497Ter) | dbSNP |
| 3 | g.38603984C= | CA1358584996 | SCN5A | c.1618G= (p.Glu540=) c.1489G= (p.Glu497=) | |
| 3 | g.38603984C>G | CA352147154 | SCN5A | c.1618G>C (p.Glu540Gln) c.1489G>C (p.Glu497Gln) | |
| 3 | g.38603984C>T | CA352147157 | SCN5A | c.1618G>A (p.Glu540Lys) c.1489G>A (p.Glu497Lys) | gnomAD v4 |
| 3 | g.38603985A>C | CA433333157 | SCN5A | c.1617T>G (p.Ser539=) c.1488T>G (p.Ser496=) | |
| 3 | g.38603985A>G | CA433333158 | SCN5A | c.1617T>C (p.Ser539=) c.1488T>C (p.Ser496=) | gnomAD v4 |
| 3 | g.38603985A>T | CA433333159 | SCN5A | c.1617T>A (p.Ser539=) c.1488T>A (p.Ser496=) | |
| 3 | g.38603986G>A | CA352147161 | SCN5A | c.1616C>T (p.Ser539Phe) c.1487C>T (p.Ser496Phe) | |
| 3 | g.38603986G>C | CA352147163 | SCN5A | c.1616C>G (p.Ser539Cys) c.1487C>G (p.Ser496Cys) | |
| 3 | g.38603986G>T | CA352147165 | SCN5A | c.1616C>A (p.Ser539Tyr) c.1487C>A (p.Ser496Tyr) |