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 |
|---|---|---|---|---|---|
| 7 | g.99768366_99768369del | CA2578955196 | CYP3A4 | c.659_662del (p.Phe220SerfsTer3) c.200_203del (p.Phe67SerfsTer3) c.512_515del (p.Phe171SerfsTer3) c.209_212del (p.Phe70SerfsTer3) | |
| 7 | g.99768363G>A | CA368370635 | CYP3A4 | c.661C>T (p.Leu221Phe) c.202C>T (p.Leu68Phe) c.514C>T (p.Leu172Phe) c.211C>T (p.Leu71Phe) | |
| 7 | g.99768363G>C | CA368370636 | CYP3A4 | c.661C>G (p.Leu221Val) c.202C>G (p.Leu68Val) c.514C>G (p.Leu172Val) c.211C>G (p.Leu71Val) | |
| 7 | g.99768363G>T | CA368370637 | CYP3A4 | c.661C>A (p.Leu221Ile) c.202C>A (p.Leu68Ile) c.514C>A (p.Leu172Ile) c.211C>A (p.Leu71Ile) | |
| 7 | g.99768364A>C | CA368370639 | CYP3A4 | c.660T>G (p.Phe220Leu) c.201T>G (p.Phe67Leu) c.513T>G (p.Phe171Leu) c.210T>G (p.Phe70Leu) | |
| 7 | g.99768364A>G | CA456690116 | CYP3A4 | c.660T>C (p.Phe220=) c.201T>C (p.Phe67=) c.513T>C (p.Phe171=) c.210T>C (p.Phe70=) | |
| 7 | g.99768364A>T | CA368370641 | CYP3A4 | c.660T>A (p.Phe220Leu) c.201T>A (p.Phe67Leu) c.513T>A (p.Phe171Leu) c.210T>A (p.Phe70Leu) | |
| 7 | g.99768365A= | CA1729180859 | CYP3A4 | c.659T= (p.Phe220=) c.200T= (p.Phe67=) c.512T= (p.Phe171=) c.209T= (p.Phe70=) | |
| 7 | g.99768365A>C | CA368370643 | CYP3A4 | c.659T>G (p.Phe220Cys) c.200T>G (p.Phe67Cys) c.512T>G (p.Phe171Cys) c.209T>G (p.Phe70Cys) | dbSNP |
| 7 | g.99768365A>G | CA368370645 | CYP3A4 | c.659T>C (p.Phe220Ser) c.200T>C (p.Phe67Ser) c.512T>C (p.Phe171Ser) c.209T>C (p.Phe70Ser) | |
| 7 | g.99768365A>T | CA368370646 | CYP3A4 | c.659T>A (p.Phe220Tyr) c.200T>A (p.Phe67Tyr) c.512T>A (p.Phe171Tyr) c.209T>A (p.Phe70Tyr) | |
| 7 | g.99768366A= | CA1729180860 | CYP3A4 | c.658T= (p.Phe220=) c.199T= (p.Phe67=) c.511T= (p.Phe171=) c.208T= (p.Phe70=) | |
| 7 | g.99768366A>C | CA4369684 | CYP3A4 | c.658T>G (p.Phe220Val) c.199T>G (p.Phe67Val) c.511T>G (p.Phe171Val) c.208T>G (p.Phe70Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768366A>G | CA368370651 | CYP3A4 | c.658T>C (p.Phe220Leu) c.199T>C (p.Phe67Leu) c.511T>C (p.Phe171Leu) c.208T>C (p.Phe70Leu) | |
| 7 | g.99768366A>T | CA368370653 | CYP3A4 | c.658T>A (p.Phe220Ile) c.199T>A (p.Phe67Ile) c.511T>A (p.Phe171Ile) c.208T>A (p.Phe70Ile) | |
| 7 | g.99768367G>A | CA456690117 | CYP3A4 | c.657C>T (p.Phe219=) c.198C>T (p.Phe66=) c.510C>T (p.Phe170=) c.207C>T (p.Phe69=) | |
| 7 | g.99768367G>C | CA368370655 | CYP3A4 | c.657C>G (p.Phe219Leu) c.198C>G (p.Phe66Leu) c.510C>G (p.Phe170Leu) c.207C>G (p.Phe69Leu) | |
| 7 | g.99768367G>T | CA368370656 | CYP3A4 | c.657C>A (p.Phe219Leu) c.198C>A (p.Phe66Leu) c.510C>A (p.Phe170Leu) c.207C>A (p.Phe69Leu) | COSMIC |
| 7 | g.99768368A>C | CA368370658 | CYP3A4 | c.656T>G (p.Phe219Cys) c.197T>G (p.Phe66Cys) c.509T>G (p.Phe170Cys) c.206T>G (p.Phe69Cys) | |
| 7 | g.99768368A>G | CA368370663 | CYP3A4 | c.656T>C (p.Phe219Ser) c.197T>C (p.Phe66Ser) c.509T>C (p.Phe170Ser) c.206T>C (p.Phe69Ser) | |
| 7 | g.99768368A>T | CA368370661 | CYP3A4 | c.656T>A (p.Phe219Tyr) c.197T>A (p.Phe66Tyr) c.509T>A (p.Phe170Tyr) c.206T>A (p.Phe69Tyr) | |
| 7 | g.99768369A= | CA1729180861 | CYP3A4 | c.655T= (p.Phe219=) c.196T= (p.Phe66=) c.508T= (p.Phe170=) c.205T= (p.Phe69=) | |
| 7 | g.99768369A>C | CA368370665 | CYP3A4 | c.655T>G (p.Phe219Val) c.196T>G (p.Phe66Val) c.508T>G (p.Phe170Val) c.205T>G (p.Phe69Val) | |
| 7 | g.99768369A>G | CA4369685 | CYP3A4 | c.655T>C (p.Phe219Leu) c.196T>C (p.Phe66Leu) c.508T>C (p.Phe170Leu) c.205T>C (p.Phe69Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768369A>T | CA368370668 | CYP3A4 | c.655T>A (p.Phe219Ile) c.196T>A (p.Phe66Ile) c.508T>A (p.Phe170Ile) c.205T>A (p.Phe69Ile) | |
| 7 | g.99768370T>A | CA456690118 | CYP3A4 | c.654A>T (p.Pro218=) c.195A>T (p.Pro65=) c.507A>T (p.Pro169=) c.204A>T (p.Pro68=) | |
| 7 | g.99768370T>C | CA456690120 | CYP3A4 | c.654A>G (p.Pro218=) c.195A>G (p.Pro65=) c.507A>G (p.Pro169=) c.204A>G (p.Pro68=) | |
| 7 | g.99768370T>G | CA456690119 | CYP3A4 | c.654A>C (p.Pro218=) c.195A>C (p.Pro65=) c.507A>C (p.Pro169=) c.204A>C (p.Pro68=) | |
| 7 | g.99768371G>A | CA368370671 | CYP3A4 | c.653C>T (p.Pro218Leu) c.194C>T (p.Pro65Leu) c.506C>T (p.Pro169Leu) c.203C>T (p.Pro68Leu) | COSMIC |
| 7 | g.99768371G>C | CA4369686 | CYP3A4 | c.653C>G (p.Pro218Arg) c.194C>G (p.Pro65Arg) c.506C>G (p.Pro169Arg) c.203C>G (p.Pro68Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768371G= | CA1729180862 | CYP3A4 | c.653C= (p.Pro218=) c.194C= (p.Pro65=) c.506C= (p.Pro169=) c.203C= (p.Pro68=) | |
| 7 | g.99768371G>T | CA368370675 | CYP3A4 | c.653C>A (p.Pro218Gln) c.194C>A (p.Pro65Gln) c.506C>A (p.Pro169Gln) c.203C>A (p.Pro68Gln) | |
| 7 | g.99768372G>A | CA368370678 | CYP3A4 | c.652C>T (p.Pro218Ser) c.193C>T (p.Pro65Ser) c.505C>T (p.Pro169Ser) c.202C>T (p.Pro68Ser) | |
| 7 | g.99768372G>C | CA368370679 | CYP3A4 | c.652C>G (p.Pro218Ala) c.193C>G (p.Pro65Ala) c.505C>G (p.Pro169Ala) c.202C>G (p.Pro68Ala) | |
| 7 | g.99768372G>T | CA368370682 | CYP3A4 | c.652C>A (p.Pro218Thr) c.193C>A (p.Pro65Thr) c.505C>A (p.Pro169Thr) c.202C>A (p.Pro68Thr) | dbSNP gnomAD v4 |
| 7 | g.99768373A>C | CA368370685 | CYP3A4 | c.651T>G (p.Asp217Glu) c.192T>G (p.Asp64Glu) c.504T>G (p.Asp168Glu) c.201T>G (p.Asp67Glu) | |
| 7 | g.99768373A>G | CA456690121 | CYP3A4 | c.651T>C (p.Asp217=) c.192T>C (p.Asp64=) c.504T>C (p.Asp168=) c.201T>C (p.Asp67=) | |
| 7 | g.99768373A>T | CA368370687 | CYP3A4 | c.651T>A (p.Asp217Glu) c.192T>A (p.Asp64Glu) c.504T>A (p.Asp168Glu) c.201T>A (p.Asp67Glu) | |
| 7 | g.99768374T>A | CA368370693 | CYP3A4 | c.650A>T (p.Asp217Val) c.191A>T (p.Asp64Val) c.503A>T (p.Asp168Val) c.200A>T (p.Asp67Val) | dbSNP gnomAD v4 |
| 7 | g.99768374T>C | CA368370695 | CYP3A4 | c.650A>G (p.Asp217Gly) c.191A>G (p.Asp64Gly) c.503A>G (p.Asp168Gly) c.200A>G (p.Asp67Gly) | |
| 7 | g.99768374T>G | CA368370690 | CYP3A4 | c.650A>C (p.Asp217Ala) c.191A>C (p.Asp64Ala) c.503A>C (p.Asp168Ala) c.200A>C (p.Asp67Ala) | |
| 7 | g.99768374T= | CA1729180863 | CYP3A4 | c.650A= (p.Asp217=) c.191A= (p.Asp64=) c.503A= (p.Asp168=) c.200A= (p.Asp67=) | |
| 7 | g.99768375C>A | CA368370698 | CYP3A4 | c.649G>T (p.Asp217Tyr) c.190G>T (p.Asp64Tyr) c.502G>T (p.Asp168Tyr) c.199G>T (p.Asp67Tyr) | |
| 7 | g.99768375C= | CA1729180864 | CYP3A4 | c.649G= (p.Asp217=) c.190G= (p.Asp64=) c.502G= (p.Asp168=) c.199G= (p.Asp67=) | |
| 7 | g.99768375C>G | CA368370700 | CYP3A4 | c.649G>C (p.Asp217His) c.190G>C (p.Asp64His) c.502G>C (p.Asp168His) c.199G>C (p.Asp67His) | |
| 7 | g.99768375C>T | CA368370702 | CYP3A4 | c.649G>A (p.Asp217Asn) c.190G>A (p.Asp64Asn) c.502G>A (p.Asp168Asn) c.199G>A (p.Asp67Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768376C>A | CA4369689 | CYP3A4 | c.648G>T (p.Leu216Phe) c.189G>T (p.Leu63Phe) c.501G>T (p.Leu167Phe) c.198G>T (p.Leu66Phe) | dbSNP ExAC gnomAD v2 |
| 7 | g.99768376C= | CA1729180866 | CYP3A4 | c.648G= (p.Leu216=) c.189G= (p.Leu63=) c.501G= (p.Leu167=) c.198G= (p.Leu66=) | |
| 7 | g.99768376C>G | CA4369688 | CYP3A4 | c.648G>C (p.Leu216Phe) c.189G>C (p.Leu63Phe) c.501G>C (p.Leu167Phe) c.198G>C (p.Leu66Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99768376C>T | CA456690122 | CYP3A4 | c.648G>A (p.Leu216=) c.189G>A (p.Leu63=) c.501G>A (p.Leu167=) c.198G>A (p.Leu66=) |