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.99768452A= | CA1729180954 | CYP3A4 | c.572T= (p.Val191=) c.113T= (p.Val38=) c.425T= (p.Val142=) c.122T= (p.Val41=) | |
| 7 | g.99768452A>C | CA368371137 | CYP3A4 | c.572T>G (p.Val191Gly) c.113T>G (p.Val38Gly) c.425T>G (p.Val142Gly) c.122T>G (p.Val41Gly) | |
| 7 | g.99768452A>G | CA163153409 | CYP3A4 | c.572T>C (p.Val191Ala) c.113T>C (p.Val38Ala) c.425T>C (p.Val142Ala) c.122T>C (p.Val41Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99768452A>T | CA368371134 | CYP3A4 | c.572T>A (p.Val191Glu) c.113T>A (p.Val38Glu) c.425T>A (p.Val142Glu) c.122T>A (p.Val41Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99768453C>A | CA368371140 | CYP3A4 | c.571G>T (p.Val191Leu) c.112G>T (p.Val38Leu) c.424G>T (p.Val142Leu) c.121G>T (p.Val41Leu) | gnomAD v4 |
| 7 | g.99768453C>G | CA368371143 | CYP3A4 | c.571G>C (p.Val191Leu) c.112G>C (p.Val38Leu) c.424G>C (p.Val142Leu) c.121G>C (p.Val41Leu) | |
| 7 | g.99768453C>T | CA368371145 | CYP3A4 | c.571G>A (p.Val191Met) c.112G>A (p.Val38Met) c.424G>A (p.Val142Met) c.121G>A (p.Val41Met) | |
| 7 | g.99768454T>A | CA456690167 | CYP3A4 | c.570A>T (p.Gly190=) c.111A>T (p.Gly37=) c.423A>T (p.Gly141=) c.120A>T (p.Gly40=) | |
| 7 | g.99768454T>C | CA4369702 | CYP3A4 | c.570A>G (p.Gly190=) c.111A>G (p.Gly37=) c.423A>G (p.Gly141=) c.120A>G (p.Gly40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768454T>G | CA456690168 | CYP3A4 | c.570A>C (p.Gly190=) c.111A>C (p.Gly37=) c.423A>C (p.Gly141=) c.120A>C (p.Gly40=) | |
| 7 | g.99768454T= | CA1729180956 | CYP3A4 | c.570A= (p.Gly190=) c.111A= (p.Gly37=) c.423A= (p.Gly141=) c.120A= (p.Gly40=) | |
| 7 | g.99768455C>A | CA368371146 | CYP3A4 | c.569G>T (p.Gly190Val) c.110G>T (p.Gly37Val) c.422G>T (p.Gly141Val) c.119G>T (p.Gly40Val) | gnomAD v4 |
| 7 | g.99768455C>G | CA368371148 | CYP3A4 | c.569G>C (p.Gly190Ala) c.110G>C (p.Gly37Ala) c.422G>C (p.Gly141Ala) c.119G>C (p.Gly40Ala) | |
| 7 | g.99768455C>T | CA368371150 | CYP3A4 | c.569G>A (p.Gly190Glu) c.110G>A (p.Gly37Glu) c.422G>A (p.Gly141Glu) c.119G>A (p.Gly40Glu) | |
| 7 | g.99768456C>A | CA368371153 | CYP3A4 | c.568G>T (p.Gly190Ter) c.109G>T (p.Gly37Ter) c.421G>T (p.Gly141Ter) c.118G>T (p.Gly40Ter) | |
| 7 | g.99768456C>G | CA368371155 | CYP3A4 | c.568G>C (p.Gly190Arg) c.109G>C (p.Gly37Arg) c.421G>C (p.Gly141Arg) c.118G>C (p.Gly40Arg) | |
| 7 | g.99768456C>T | CA368371157 | CYP3A4 | c.568G>A (p.Gly190Arg) c.109G>A (p.Gly37Arg) c.421G>A (p.Gly141Arg) c.118G>A (p.Gly40Arg) | |
| 7 | g.99768457A>C | CA368371160 | CYP3A4 | c.567T>G (p.Phe189Leu) c.108T>G (p.Phe36Leu) c.420T>G (p.Phe140Leu) c.117T>G (p.Phe39Leu) | |
| 7 | g.99768457A>G | CA456690169 | CYP3A4 | c.567T>C (p.Phe189=) c.108T>C (p.Phe36=) c.420T>C (p.Phe140=) c.117T>C (p.Phe39=) | |
| 7 | g.99768457A>T | CA368371162 | CYP3A4 | c.567T>A (p.Phe189Leu) c.108T>A (p.Phe36Leu) c.420T>A (p.Phe140Leu) c.117T>A (p.Phe39Leu) | |
| 7 | g.99768458A= | CA1729180958 | CYP3A4 | c.566T= (p.Phe189=) c.107T= (p.Phe36=) c.419T= (p.Phe140=) c.116T= (p.Phe39=) | |
| 7 | g.99768458A>C | CA368371168 | CYP3A4 | c.566T>G (p.Phe189Cys) c.107T>G (p.Phe36Cys) c.419T>G (p.Phe140Cys) c.116T>G (p.Phe39Cys) | |
| 7 | g.99768458A>G | CA163153414 | CYP3A4 | c.566T>C (p.Phe189Ser) c.107T>C (p.Phe36Ser) c.419T>C (p.Phe140Ser) c.116T>C (p.Phe39Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99768458A>T | CA368371166 | CYP3A4 | c.566T>A (p.Phe189Tyr) c.107T>A (p.Phe36Tyr) c.419T>A (p.Phe140Tyr) c.116T>A (p.Phe39Tyr) | |
| 7 | g.99768459A= | CA1729180960 | CYP3A4 | c.565T= (p.Phe189=) c.106T= (p.Phe36=) c.418T= (p.Phe140=) c.115T= (p.Phe39=) | |
| 7 | g.99768459A>C | CA368371170 | CYP3A4 | c.565T>G (p.Phe189Val) c.106T>G (p.Phe36Val) c.418T>G (p.Phe140Val) c.115T>G (p.Phe39Val) | |
| 7 | g.99768459A>G | CA4369703 | CYP3A4 | c.565T>C (p.Phe189Leu) c.106T>C (p.Phe36Leu) c.418T>C (p.Phe140Leu) c.115T>C (p.Phe39Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99768459A>T | CA368371174 | CYP3A4 | c.565T>A (p.Phe189Ile) c.106T>A (p.Phe36Ile) c.418T>A (p.Phe140Ile) c.115T>A (p.Phe39Ile) | |
| 7 | g.99768460T>A | CA456690170 | CYP3A4 | c.564A>T (p.Ser188=) c.105A>T (p.Ser35=) c.417A>T (p.Ser139=) c.114A>T (p.Ser38=) | |
| 7 | g.99768460T>C | CA456690171 | CYP3A4 | c.564A>G (p.Ser188=) c.105A>G (p.Ser35=) c.417A>G (p.Ser139=) c.114A>G (p.Ser38=) | |
| 7 | g.99768460T>G | CA456690172 | CYP3A4 | c.564A>C (p.Ser188=) c.105A>C (p.Ser35=) c.417A>C (p.Ser139=) c.114A>C (p.Ser38=) | |
| 7 | g.99768461G>A | CA368371178 | CYP3A4 | c.563C>T (p.Ser188Leu) c.104C>T (p.Ser35Leu) c.416C>T (p.Ser139Leu) c.113C>T (p.Ser38Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99768461G>C | CA368371179 | CYP3A4 | c.563C>G (p.Ser188Ter) c.104C>G (p.Ser35Ter) c.416C>G (p.Ser139Ter) c.113C>G (p.Ser38Ter) | |
| 7 | g.99768461G= | CA1729180962 | CYP3A4 | c.563C= (p.Ser188=) c.104C= (p.Ser35=) c.416C= (p.Ser139=) c.113C= (p.Ser38=) | |
| 7 | g.99768461G>T | CA368371182 | CYP3A4 | c.563C>A (p.Ser188Ter) c.104C>A (p.Ser35Ter) c.416C>A (p.Ser139Ter) c.113C>A (p.Ser38Ter) | gnomAD v4 |
| 7 | g.99768462A= | CA1729180964 | CYP3A4 | c.562T= (p.Ser188=) c.103T= (p.Ser35=) c.415T= (p.Ser139=) c.112T= (p.Ser38=) | |
| 7 | g.99768462A>C | CA368371183 | CYP3A4 | c.562T>G (p.Ser188Ala) c.103T>G (p.Ser35Ala) c.415T>G (p.Ser139Ala) c.112T>G (p.Ser38Ala) | |
| 7 | g.99768462A>G | CA368371184 | CYP3A4 | c.562T>C (p.Ser188Pro) c.103T>C (p.Ser35Pro) c.415T>C (p.Ser139Pro) c.112T>C (p.Ser38Pro) | |
| 7 | g.99768462A>T | CA368371187 | CYP3A4 | c.562T>A (p.Ser188Thr) c.103T>A (p.Ser35Thr) c.415T>A (p.Ser139Thr) c.112T>A (p.Ser38Thr) | dbSNP gnomAD v4 |
| 7 | g.99768463T>A | CA456690175 | CYP3A4 | c.561A>T (p.Thr187=) c.102A>T (p.Thr34=) c.414A>T (p.Thr138=) c.111A>T (p.Thr37=) | |
| 7 | g.99768463T>C | CA456690174 | CYP3A4 | c.561A>G (p.Thr187=) c.102A>G (p.Thr34=) c.414A>G (p.Thr138=) c.111A>G (p.Thr37=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.99768463T>G | CA456690173 | CYP3A4 | c.561A>C (p.Thr187=) c.102A>C (p.Thr34=) c.414A>C (p.Thr138=) c.111A>C (p.Thr37=) | |
| 7 | g.99768463T= | CA1729180967 | CYP3A4 | c.561A= (p.Thr187=) c.102A= (p.Thr34=) c.414A= (p.Thr138=) c.111A= (p.Thr37=) | |
| 7 | g.99768464G>A | CA368371189 | CYP3A4 | c.560C>T (p.Thr187Ile) c.101C>T (p.Thr34Ile) c.413C>T (p.Thr138Ile) c.110C>T (p.Thr37Ile) | |
| 7 | g.99768464G>C | CA368371192 | CYP3A4 | c.560C>G (p.Thr187Arg) c.101C>G (p.Thr34Arg) c.413C>G (p.Thr138Arg) c.110C>G (p.Thr37Arg) | |
| 7 | g.99768464G>T | CA368371193 | CYP3A4 | c.560C>A (p.Thr187Lys) c.101C>A (p.Thr34Lys) c.413C>A (p.Thr138Lys) c.110C>A (p.Thr37Lys) | |
| 7 | g.99768465T>A | CA163153417 | CYP3A4 | c.559A>T (p.Thr187Ser) c.100A>T (p.Thr34Ser) c.412A>T (p.Thr138Ser) c.109A>T (p.Thr37Ser) | |
| 7 | g.99768465T>C | CA368371199 | CYP3A4 | c.559A>G (p.Thr187Ala) c.100A>G (p.Thr34Ala) c.412A>G (p.Thr138Ala) c.109A>G (p.Thr37Ala) | |
| 7 | g.99768465T>G | CA368371197 | CYP3A4 | c.559A>C (p.Thr187Pro) c.100A>C (p.Thr34Pro) c.412A>C (p.Thr138Pro) c.109A>C (p.Thr37Pro) | |
| 7 | g.99768466G>A | CA456690176 | CYP3A4 | c.558C>T (p.Ser186=) c.99C>T (p.Ser33=) c.411C>T (p.Ser137=) c.108C>T (p.Ser36=) | dbSNP gnomAD v3 gnomAD v4 |