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.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=) | |
| 7 | g.99768376_99768379delinsCAAA | CA1729180865 | CYP3A4 | c.645_648delinsTTTG (p.Phe215=) c.186_189delinsTTTG (p.Phe62=) c.498_501delinsTTTG (p.Phe166=) c.195_198delinsTTTG (p.Phe65=) | |
| 7 | g.99768377A>C | CA368370710 | CYP3A4 | c.647T>G (p.Leu216Trp) c.188T>G (p.Leu63Trp) c.500T>G (p.Leu167Trp) c.197T>G (p.Leu66Trp) | |
| 7 | g.99768377A>G | CA368370711 | CYP3A4 | c.647T>C (p.Leu216Ser) c.188T>C (p.Leu63Ser) c.500T>C (p.Leu167Ser) c.197T>C (p.Leu66Ser) | |
| 7 | g.99768377A>T | CA368370714 | CYP3A4 | c.647T>A (p.Leu216Ter) c.188T>A (p.Leu63Ter) c.500T>A (p.Leu167Ter) c.197T>A (p.Leu66Ter) | |
| 7 | g.99768382dup | CA4369687 | CYP3A4 | c.647dup (p.Leu216PhefsTer19) c.188dup (p.Leu63PhefsTer19) c.500dup (p.Leu167PhefsTer19) c.197dup (p.Leu66PhefsTer19) c.647dup (p.Leu216PhefsTer18) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768380_99768382del | CA844514431 | CYP3A4 | c.645_647del (p.Phe215del) c.186_188del (p.Phe62del) c.498_500del (p.Phe166del) c.195_197del (p.Phe65del) | dbSNP |
| 7 | g.99768378A>C | CA368370716 | CYP3A4 | c.646T>G (p.Leu216Val) c.187T>G (p.Leu63Val) c.499T>G (p.Leu167Val) c.196T>G (p.Leu66Val) | |
| 7 | g.99768378A>G | CA456690123 | CYP3A4 | c.646T>C (p.Leu216=) c.187T>C (p.Leu63=) c.499T>C (p.Leu167=) c.196T>C (p.Leu66=) | dbSNP |
| 7 | g.99768378A>T | CA368370717 | CYP3A4 | c.646T>A (p.Leu216Met) c.187T>A (p.Leu63Met) c.499T>A (p.Leu167Met) c.196T>A (p.Leu66Met) | |
| 7 | g.99768379A>C | CA368370720 | CYP3A4 | c.645T>G (p.Phe215Leu) c.186T>G (p.Phe62Leu) c.498T>G (p.Phe166Leu) c.195T>G (p.Phe65Leu) | |
| 7 | g.99768379A>G | CA456690124 | CYP3A4 | c.645T>C (p.Phe215=) c.186T>C (p.Phe62=) c.498T>C (p.Phe166=) c.195T>C (p.Phe65=) | |
| 7 | g.99768379A>T | CA368370722 | CYP3A4 | c.645T>A (p.Phe215Leu) c.186T>A (p.Phe62Leu) c.498T>A (p.Phe166Leu) c.195T>A (p.Phe65Leu) | |
| 7 | g.99768380A>C | CA368370728 | CYP3A4 | c.644T>G (p.Phe215Cys) c.185T>G (p.Phe62Cys) c.497T>G (p.Phe166Cys) c.194T>G (p.Phe65Cys) | |
| 7 | g.99768380A>G | CA368370726 | CYP3A4 | c.644T>C (p.Phe215Ser) c.185T>C (p.Phe62Ser) c.497T>C (p.Phe166Ser) c.194T>C (p.Phe65Ser) | |
| 7 | g.99768380A>T | CA368370725 | CYP3A4 | c.644T>A (p.Phe215Tyr) c.185T>A (p.Phe62Tyr) c.497T>A (p.Phe166Tyr) c.194T>A (p.Phe65Tyr) | |
| 7 | g.99768381A>C | CA368370730 | CYP3A4 | c.643T>G (p.Phe215Val) c.184T>G (p.Phe62Val) c.496T>G (p.Phe166Val) c.193T>G (p.Phe65Val) | |
| 7 | g.99768381A>G | CA368370732 | CYP3A4 | c.643T>C (p.Phe215Leu) c.184T>C (p.Phe62Leu) c.496T>C (p.Phe166Leu) c.193T>C (p.Phe65Leu) | |
| 7 | g.99768381A>T | CA368370734 | CYP3A4 | c.643T>A (p.Phe215Ile) c.184T>A (p.Phe62Ile) c.496T>A (p.Phe166Ile) c.193T>A (p.Phe65Ile) | |
| 7 | g.99768382A>C | CA368370736 | CYP3A4 | c.642T>G (p.Asp214Glu) c.183T>G (p.Asp61Glu) c.495T>G (p.Asp165Glu) c.192T>G (p.Asp64Glu) | |
| 7 | g.99768382A>G | CA456690125 | CYP3A4 | c.642T>C (p.Asp214=) c.183T>C (p.Asp61=) c.495T>C (p.Asp165=) c.192T>C (p.Asp64=) | gnomAD v4 |