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.99762106A>C | CA368368970 | CYP3A4 | c.1188T>G (p.Ile396Met) n.623T>G c.729T>G (p.Ile243Met) c.1041T>G (p.Ile347Met) c.738T>G (p.Ile246Met) c.1185T>G (p.Ile395Met) | gnomAD v4 |
| 7 | g.99762106A>G | CA456687163 | CYP3A4 | c.1188T>C (p.Ile396=) n.623T>C c.729T>C (p.Ile243=) c.1041T>C (p.Ile347=) c.738T>C (p.Ile246=) c.1185T>C (p.Ile395=) | |
| 7 | g.99762106A>T | CA456687164 | CYP3A4 | c.1188T>A (p.Ile396=) n.623T>A c.729T>A (p.Ile243=) c.1041T>A (p.Ile347=) c.738T>A (p.Ile246=) c.1185T>A (p.Ile395=) | |
| 7 | g.99762107A= | CA1729177310 | CYP3A4 | c.1187T= (p.Ile396=) n.622T= c.728T= (p.Ile243=) c.1040T= (p.Ile347=) c.737T= (p.Ile246=) c.1184T= (p.Ile395=) | |
| 7 | g.99762107A>C | CA368368975 | CYP3A4 | c.1187T>G (p.Ile396Ser) n.622T>G c.728T>G (p.Ile243Ser) c.1040T>G (p.Ile347Ser) c.737T>G (p.Ile246Ser) c.1184T>G (p.Ile395Ser) | |
| 7 | g.99762107A>G | CA4369543 | CYP3A4 | c.1187T>C (p.Ile396Thr) n.622T>C c.728T>C (p.Ile243Thr) c.1040T>C (p.Ile347Thr) c.737T>C (p.Ile246Thr) c.1184T>C (p.Ile395Thr) | dbSNP ExAC gnomAD v4 |
| 7 | g.99762107A>T | CA368368972 | CYP3A4 | c.1187T>A (p.Ile396Asn) n.622T>A c.728T>A (p.Ile243Asn) c.1040T>A (p.Ile347Asn) c.737T>A (p.Ile246Asn) c.1184T>A (p.Ile395Asn) | |
| 7 | g.99762108T>A | CA368368979 | CYP3A4 | c.1186A>T (p.Ile396Phe) n.621A>T c.727A>T (p.Ile243Phe) c.1039A>T (p.Ile347Phe) c.736A>T (p.Ile246Phe) c.1183A>T (p.Ile395Phe) | |
| 7 | g.99762108T>C | CA368368983 | CYP3A4 | c.1186A>G (p.Ile396Val) n.621A>G c.727A>G (p.Ile243Val) c.1039A>G (p.Ile347Val) c.736A>G (p.Ile246Val) c.1183A>G (p.Ile395Val) | |
| 7 | g.99762108T>G | CA368368980 | CYP3A4 | c.1186A>C (p.Ile396Leu) n.621A>C c.727A>C (p.Ile243Leu) c.1039A>C (p.Ile347Leu) c.736A>C (p.Ile246Leu) c.1183A>C (p.Ile395Leu) | |
| 7 | g.99762109C>A | CA4369544 | CYP3A4 | c.1185G>T (p.Met395Ile) n.620G>T c.726G>T (p.Met242Ile) c.1038G>T (p.Met346Ile) c.735G>T (p.Met245Ile) c.1182G>T (p.Met394Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762109C= | CA1729177311 | CYP3A4 | c.1185G= (p.Met395=) n.620G= c.726G= (p.Met242=) c.1038G= (p.Met346=) c.735G= (p.Met245=) c.1182G= (p.Met394=) | |
| 7 | g.99762109C>G | CA368368987 | CYP3A4 | c.1185G>C (p.Met395Ile) n.620G>C c.726G>C (p.Met242Ile) c.1038G>C (p.Met346Ile) c.735G>C (p.Met245Ile) c.1182G>C (p.Met394Ile) | |
| 7 | g.99762109C>T | CA368368989 | CYP3A4 | c.1185G>A (p.Met395Ile) n.620G>A c.726G>A (p.Met242Ile) c.1038G>A (p.Met346Ile) c.735G>A (p.Met245Ile) c.1182G>A (p.Met394Ile) | |
| 7 | g.99762110A>C | CA368368992 | CYP3A4 | c.1184T>G (p.Met395Arg) n.619T>G c.725T>G (p.Met242Arg) c.1037T>G (p.Met346Arg) c.734T>G (p.Met245Arg) c.1181T>G (p.Met394Arg) | |
| 7 | g.99762110A>G | CA368368994 | CYP3A4 | c.1184T>C (p.Met395Thr) n.619T>C c.725T>C (p.Met242Thr) c.1037T>C (p.Met346Thr) c.734T>C (p.Met245Thr) c.1181T>C (p.Met394Thr) | |
| 7 | g.99762110A>T | CA368368996 | CYP3A4 | c.1184T>A (p.Met395Lys) n.619T>A c.725T>A (p.Met242Lys) c.1037T>A (p.Met346Lys) c.734T>A (p.Met245Lys) c.1181T>A (p.Met394Lys) | |
| 7 | g.99762111T>A | CA368368999 | CYP3A4 | c.1183A>T (p.Met395Leu) n.618A>T c.724A>T (p.Met242Leu) c.1036A>T (p.Met346Leu) c.733A>T (p.Met245Leu) c.1180A>T (p.Met394Leu) | |
| 7 | g.99762111T>C | CA4369545 | CYP3A4 | c.1183A>G (p.Met395Val) n.618A>G c.724A>G (p.Met242Val) c.1036A>G (p.Met346Val) c.733A>G (p.Met245Val) c.1180A>G (p.Met394Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762111T>G | CA368369004 | CYP3A4 | c.1183A>C (p.Met395Leu) n.618A>C c.724A>C (p.Met242Leu) c.1036A>C (p.Met346Leu) c.733A>C (p.Met245Leu) c.1180A>C (p.Met394Leu) | |
| 7 | g.99762111T= | CA1729177312 | CYP3A4 | c.1183A= (p.Met395=) n.618A= c.724A= (p.Met242=) c.1036A= (p.Met346=) c.733A= (p.Met245=) c.1180A= (p.Met394=) | |
| 7 | g.99762111_99762114delinsTCAC | CA1729177313 | CYP3A4 | c.1180_1183delinsGTGA (p.Val394=) n.615_618delinsGTGA c.721_724delinsGTGA (p.Val241=) c.1033_1036delinsGTGA (p.Val345=) c.730_733delinsGTGA (p.Val244=) c.1177_1180delinsGTGA (p.Val393=) | |
| 7 | g.99762112C>A | CA456687165 | CYP3A4 | c.1182G>T (p.Val394=) n.617G>T c.723G>T (p.Val241=) c.1035G>T (p.Val345=) c.732G>T (p.Val244=) c.1179G>T (p.Val393=) | |
| 7 | g.99762112C= | CA1729177314 | CYP3A4 | c.1182G= (p.Val394=) n.617G= c.723G= (p.Val241=) c.1035G= (p.Val345=) c.732G= (p.Val244=) c.1179G= (p.Val393=) | |
| 7 | g.99762112C>G | CA456687166 | CYP3A4 | c.1182G>C (p.Val394=) n.617G>C c.723G>C (p.Val241=) c.1035G>C (p.Val345=) c.732G>C (p.Val244=) c.1179G>C (p.Val393=) | |
| 7 | g.99762112C>T | CA456687167 | CYP3A4 | c.1182G>A (p.Val394=) n.617G>A c.723G>A (p.Val241=) c.1035G>A (p.Val345=) c.732G>A (p.Val244=) c.1179G>A (p.Val393=) | dbSNP |
| 7 | g.99762119_99762121del | CA915509875 | CYP3A4 | c.1180_1182del (p.Val394del) n.615_617del c.721_723del (p.Val241del) c.1033_1035del (p.Val345del) c.730_732del (p.Val244del) c.1177_1179del (p.Val393del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762113A>C | CA368369006 | CYP3A4 | c.1181T>G (p.Val394Gly) n.616T>G c.722T>G (p.Val241Gly) c.1034T>G (p.Val345Gly) c.731T>G (p.Val244Gly) c.1178T>G (p.Val393Gly) | |
| 7 | g.99762113A>G | CA368369008 | CYP3A4 | c.1181T>C (p.Val394Ala) n.616T>C c.722T>C (p.Val241Ala) c.1034T>C (p.Val345Ala) c.731T>C (p.Val244Ala) c.1178T>C (p.Val393Ala) | gnomAD v4 |
| 7 | g.99762113A>T | CA368369010 | CYP3A4 | c.1181T>A (p.Val394Glu) n.616T>A c.722T>A (p.Val241Glu) c.1034T>A (p.Val345Glu) c.731T>A (p.Val244Glu) c.1178T>A (p.Val393Glu) | |
| 7 | g.99762114C>A | CA368369013 | CYP3A4 | c.1180G>T (p.Val394Leu) n.615G>T c.721G>T (p.Val241Leu) c.1033G>T (p.Val345Leu) c.730G>T (p.Val244Leu) c.1177G>T (p.Val393Leu) | |
| 7 | g.99762114C= | CA1729177315 | CYP3A4 | c.1180G= (p.Val394=) n.615G= c.721G= (p.Val241=) c.1033G= (p.Val345=) c.730G= (p.Val244=) c.1177G= (p.Val393=) | |
| 7 | g.99762114C>G | CA368369016 | CYP3A4 | c.1180G>C (p.Val394Leu) n.615G>C c.721G>C (p.Val241Leu) c.1033G>C (p.Val345Leu) c.730G>C (p.Val244Leu) c.1177G>C (p.Val393Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99762114C>T | CA368369014 | CYP3A4 | c.1180G>A (p.Val394Met) n.615G>A c.721G>A (p.Val241Met) c.1033G>A (p.Val345Met) c.730G>A (p.Val244Met) c.1177G>A (p.Val393Met) | |
| 7 | g.99762115del | CA2715613393 | CYP3A4 | c.1180del (p.Val394Ter) n.615del c.721del (p.Val241Ter) c.1033del (p.Val345Ter) c.730del (p.Val244Ter) c.1177del (p.Val393Ter) | dbSNP |
| 7 | g.99762115C>A | CA456687168 | CYP3A4 | c.1179G>T (p.Val393=) n.614G>T c.720G>T (p.Val240=) c.1032G>T (p.Val344=) c.729G>T (p.Val243=) c.1176G>T (p.Val392=) | |
| 7 | g.99762115C>G | CA456687170 | CYP3A4 | c.1179G>C (p.Val393=) n.614G>C c.720G>C (p.Val240=) c.1032G>C (p.Val344=) c.729G>C (p.Val243=) c.1176G>C (p.Val392=) | |
| 7 | g.99762115C>T | CA456687169 | CYP3A4 | c.1179G>A (p.Val393=) n.614G>A c.720G>A (p.Val240=) c.1032G>A (p.Val344=) c.729G>A (p.Val243=) c.1176G>A (p.Val392=) | |
| 7 | g.99762116A>C | CA368369019 | CYP3A4 | c.1178T>G (p.Val393Gly) n.613T>G c.719T>G (p.Val240Gly) c.1031T>G (p.Val344Gly) c.728T>G (p.Val243Gly) c.1175T>G (p.Val392Gly) | |
| 7 | g.99762116A>G | CA368369022 | CYP3A4 | c.1178T>C (p.Val393Ala) n.613T>C c.719T>C (p.Val240Ala) c.1031T>C (p.Val344Ala) c.728T>C (p.Val243Ala) c.1175T>C (p.Val392Ala) | |
| 7 | g.99762116A>T | CA368369023 | CYP3A4 | c.1178T>A (p.Val393Glu) n.613T>A c.719T>A (p.Val240Glu) c.1031T>A (p.Val344Glu) c.728T>A (p.Val243Glu) c.1175T>A (p.Val392Glu) | |
| 7 | g.99762117C>A | CA368369026 | CYP3A4 | c.1177G>T (p.Val393Leu) n.612G>T c.718G>T (p.Val240Leu) c.1030G>T (p.Val344Leu) c.727G>T (p.Val243Leu) c.1174G>T (p.Val392Leu) | |
| 7 | g.99762117C= | CA1729177316 | CYP3A4 | c.1177G= (p.Val393=) n.612G= c.718G= (p.Val240=) c.1030G= (p.Val344=) c.727G= (p.Val243=) c.1174G= (p.Val392=) | |
| 7 | g.99762117C>G | CA368369028 | CYP3A4 | c.1177G>C (p.Val393Leu) n.612G>C c.718G>C (p.Val240Leu) c.1030G>C (p.Val344Leu) c.727G>C (p.Val243Leu) c.1174G>C (p.Val392Leu) | |
| 7 | g.99762117C>T | CA368369030 | CYP3A4 | c.1177G>A (p.Val393Met) n.612G>A c.718G>A (p.Val240Met) c.1030G>A (p.Val344Met) c.727G>A (p.Val243Met) c.1174G>A (p.Val392Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99762118C>A | CA456687171 | CYP3A4 | c.1176G>T (p.Val392=) n.611G>T c.717G>T (p.Val239=) c.1029G>T (p.Val343=) c.726G>T (p.Val242=) c.1173G>T (p.Val391=) | |
| 7 | g.99762118C= | CA1729177317 | CYP3A4 | c.1176G= (p.Val392=) n.611G= c.717G= (p.Val239=) c.1029G= (p.Val343=) c.726G= (p.Val242=) c.1173G= (p.Val391=) | |
| 7 | g.99762118C>G | CA456687172 | CYP3A4 | c.1176G>C (p.Val392=) n.611G>C c.717G>C (p.Val239=) c.1029G>C (p.Val343=) c.726G>C (p.Val242=) c.1173G>C (p.Val391=) | |
| 7 | g.99762118C>T | CA163151540 | CYP3A4 | c.1176G>A (p.Val392=) n.611G>A c.717G>A (p.Val239=) c.1029G>A (p.Val343=) c.726G>A (p.Val242=) c.1173G>A (p.Val391=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99762119A>C | CA368369033 | CYP3A4 | c.1175T>G (p.Val392Gly) n.610T>G c.716T>G (p.Val239Gly) c.1028T>G (p.Val343Gly) c.725T>G (p.Val242Gly) c.1172T>G (p.Val391Gly) |