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.99762203_99762206del | CA4369560 | CYP3A4 | c.1089_1092del (p.Leu364AspfsTer7) n.524_527del c.630_633del (p.Leu211AspfsTer7) c.942_945del (p.Leu315AspfsTer7) c.639_642del (p.Leu214AspfsTer7) c.1086_1089del (p.Leu363AspfsTer7) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762206G>A | CA4369562 | CYP3A4 | c.1088C>T (p.Thr363Met) n.523C>T c.629C>T (p.Thr210Met) c.941C>T (p.Thr314Met) c.638C>T (p.Thr213Met) c.1085C>T (p.Thr362Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762206G>C | CA368369451 | CYP3A4 | c.1088C>G (p.Thr363Arg) n.523C>G c.629C>G (p.Thr210Arg) c.941C>G (p.Thr314Arg) c.638C>G (p.Thr213Arg) c.1085C>G (p.Thr362Arg) | |
| 7 | g.99762206G= | CA1729177354 | CYP3A4 | c.1088C= (p.Thr363=) n.523C= c.629C= (p.Thr210=) c.941C= (p.Thr314=) c.638C= (p.Thr213=) c.1085C= (p.Thr362=) | |
| 7 | g.99762206G>T | CA4369563 | CYP3A4 | c.1088C>A (p.Thr363Lys) n.523C>A c.629C>A (p.Thr210Lys) c.941C>A (p.Thr314Lys) c.638C>A (p.Thr213Lys) c.1085C>A (p.Thr362Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99762207T>A | CA368369453 | CYP3A4 | c.1087A>T (p.Thr363Ser) n.522A>T c.628A>T (p.Thr210Ser) c.940A>T (p.Thr314Ser) c.637A>T (p.Thr213Ser) c.1084A>T (p.Thr362Ser) | |
| 7 | g.99762207T>C | CA368369455 | CYP3A4 | c.1087A>G (p.Thr363Ala) n.522A>G c.628A>G (p.Thr210Ala) c.940A>G (p.Thr314Ala) c.637A>G (p.Thr213Ala) c.1084A>G (p.Thr362Ala) | |
| 7 | g.99762207T>G | CA368369457 | CYP3A4 | c.1087A>C (p.Thr363Pro) n.522A>C c.628A>C (p.Thr210Pro) c.940A>C (p.Thr314Pro) c.637A>C (p.Thr213Pro) c.1084A>C (p.Thr362Pro) | |
| 7 | g.99762208T>A | CA368369460 | CYP3A4 | c.1086A>T (p.Glu362Asp) n.521A>T c.627A>T (p.Glu209Asp) c.939A>T (p.Glu313Asp) c.636A>T (p.Glu212Asp) c.1083A>T (p.Glu361Asp) | |
| 7 | g.99762208T>C | CA456687221 | CYP3A4 | c.1086A>G (p.Glu362=) n.521A>G c.627A>G (p.Glu209=) c.939A>G (p.Glu313=) c.636A>G (p.Glu212=) c.1083A>G (p.Glu361=) | |
| 7 | g.99762208T>G | CA368369462 | CYP3A4 | c.1086A>C (p.Glu362Asp) n.521A>C c.627A>C (p.Glu209Asp) c.939A>C (p.Glu313Asp) c.636A>C (p.Glu212Asp) c.1083A>C (p.Glu361Asp) | |
| 7 | g.99762209T>A | CA368369470 | CYP3A4 | c.1085A>T (p.Glu362Val) n.520A>T c.626A>T (p.Glu209Val) c.938A>T (p.Glu313Val) c.635A>T (p.Glu212Val) c.1082A>T (p.Glu361Val) | |
| 7 | g.99762209T>C | CA368369465 | CYP3A4 | c.1085A>G (p.Glu362Gly) n.520A>G c.626A>G (p.Glu209Gly) c.938A>G (p.Glu313Gly) c.635A>G (p.Glu212Gly) c.1082A>G (p.Glu361Gly) | |
| 7 | g.99762209T>G | CA368369468 | CYP3A4 | c.1085A>C (p.Glu362Ala) n.520A>C c.626A>C (p.Glu209Ala) c.938A>C (p.Glu313Ala) c.635A>C (p.Glu212Ala) c.1082A>C (p.Glu361Ala) | |
| 7 | g.99762210C>A | CA368369473 | CYP3A4 | c.1084G>T (p.Glu362Ter) n.519G>T c.625G>T (p.Glu209Ter) c.937G>T (p.Glu313Ter) c.634G>T (p.Glu212Ter) c.1081G>T (p.Glu361Ter) | |
| 7 | g.99762210C>G | CA368369475 | CYP3A4 | c.1084G>C (p.Glu362Gln) n.519G>C c.625G>C (p.Glu209Gln) c.937G>C (p.Glu313Gln) c.634G>C (p.Glu212Gln) c.1081G>C (p.Glu361Gln) | |
| 7 | g.99762210C>T | CA368369477 | CYP3A4 | c.1084G>A (p.Glu362Lys) n.519G>A c.625G>A (p.Glu209Lys) c.937G>A (p.Glu313Lys) c.634G>A (p.Glu212Lys) c.1081G>A (p.Glu361Lys) | |
| 7 | g.99762211A= | CA1729177355 | CYP3A4 | c.1083T= (p.Asn361=) n.518T= c.624T= (p.Asn208=) c.936T= (p.Asn312=) c.633T= (p.Asn211=) c.1080T= (p.Asn360=) | |
| 7 | g.99762211A>C | CA368369479 | CYP3A4 | c.1083T>G (p.Asn361Lys) n.518T>G c.624T>G (p.Asn208Lys) c.936T>G (p.Asn312Lys) c.633T>G (p.Asn211Lys) c.1080T>G (p.Asn360Lys) | |
| 7 | g.99762211A>G | CA456687222 | CYP3A4 | c.1083T>C (p.Asn361=) n.518T>C c.624T>C (p.Asn208=) c.936T>C (p.Asn312=) c.633T>C (p.Asn211=) c.1080T>C (p.Asn360=) | dbSNP |
| 7 | g.99762211A>T | CA368369481 | CYP3A4 | c.1083T>A (p.Asn361Lys) n.518T>A c.624T>A (p.Asn208Lys) c.936T>A (p.Asn312Lys) c.633T>A (p.Asn211Lys) c.1080T>A (p.Asn360Lys) | |
| 7 | g.99762212T>A | CA368369484 | CYP3A4 | c.1082A>T (p.Asn361Ile) n.517A>T c.623A>T (p.Asn208Ile) c.935A>T (p.Asn312Ile) c.632A>T (p.Asn211Ile) c.1079A>T (p.Asn360Ile) | |
| 7 | g.99762212T>C | CA368369482 | CYP3A4 | c.1082A>G (p.Asn361Ser) n.517A>G c.623A>G (p.Asn208Ser) c.935A>G (p.Asn312Ser) c.632A>G (p.Asn211Ser) c.1079A>G (p.Asn360Ser) | |
| 7 | g.99762212T>G | CA368369483 | CYP3A4 | c.1082A>C (p.Asn361Thr) n.517A>C c.623A>C (p.Asn208Thr) c.935A>C (p.Asn312Thr) c.632A>C (p.Asn211Thr) c.1079A>C (p.Asn360Thr) | |
| 7 | g.99762213T>A | CA368369485 | CYP3A4 | c.1081A>T (p.Asn361Tyr) n.516A>T c.622A>T (p.Asn208Tyr) c.934A>T (p.Asn312Tyr) c.631A>T (p.Asn211Tyr) c.1078A>T (p.Asn360Tyr) | |
| 7 | g.99762213T>C | CA368369486 | CYP3A4 | c.1081A>G (p.Asn361Asp) n.516A>G c.622A>G (p.Asn208Asp) c.934A>G (p.Asn312Asp) c.631A>G (p.Asn211Asp) c.1078A>G (p.Asn360Asp) | gnomAD v4 |
| 7 | g.99762213T>G | CA368369487 | CYP3A4 | c.1081A>C (p.Asn361His) n.516A>C c.622A>C (p.Asn208His) c.934A>C (p.Asn312His) c.631A>C (p.Asn211His) c.1078A>C (p.Asn360His) | |
| 7 | g.99762213_99762216delinsTCAC | CA1729177356 | CYP3A4 | c.1078_1081delinsGTGA (p.Val360=) n.513_516delinsGTGA c.619_622delinsGTGA (p.Val207=) c.931_934delinsGTGA (p.Val311=) c.628_631delinsGTGA (p.Val210=) c.1075_1078delinsGTGA (p.Val359=) | |
| 7 | g.99762214C>A | CA456687223 | CYP3A4 | c.1080G>T (p.Val360=) n.515G>T c.621G>T (p.Val207=) c.933G>T (p.Val311=) c.630G>T (p.Val210=) c.1077G>T (p.Val359=) | |
| 7 | g.99762214C= | CA1729177357 | CYP3A4 | c.1080G= (p.Val360=) n.515G= c.621G= (p.Val207=) c.933G= (p.Val311=) c.630G= (p.Val210=) c.1077G= (p.Val359=) | |
| 7 | g.99762214C>G | CA456687224 | CYP3A4 | c.1080G>C (p.Val360=) n.515G>C c.621G>C (p.Val207=) c.933G>C (p.Val311=) c.630G>C (p.Val210=) c.1077G>C (p.Val359=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99762214C>T | CA456687225 | CYP3A4 | c.1080G>A (p.Val360=) n.515G>A c.621G>A (p.Val207=) c.933G>A (p.Val311=) c.630G>A (p.Val210=) c.1077G>A (p.Val359=) | |
| 7 | g.99762219_99762221del | CA576710251 | CYP3A4 | c.1078_1080del (p.Val360del) n.513_515del c.619_621del (p.Val207del) c.931_933del (p.Val311del) c.628_630del (p.Val210del) c.1075_1077del (p.Val359del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.99762215A>C | CA368369488 | CYP3A4 | c.1079T>G (p.Val360Gly) n.514T>G c.620T>G (p.Val207Gly) c.932T>G (p.Val311Gly) c.629T>G (p.Val210Gly) c.1076T>G (p.Val359Gly) | |
| 7 | g.99762215A>G | CA368369489 | CYP3A4 | c.1079T>C (p.Val360Ala) n.514T>C c.620T>C (p.Val207Ala) c.932T>C (p.Val311Ala) c.629T>C (p.Val210Ala) c.1076T>C (p.Val359Ala) | gnomAD v4 |
| 7 | g.99762215A>T | CA368369490 | CYP3A4 | c.1079T>A (p.Val360Glu) n.514T>A c.620T>A (p.Val207Glu) c.932T>A (p.Val311Glu) c.629T>A (p.Val210Glu) c.1076T>A (p.Val359Glu) | |
| 7 | g.99762216C>A | CA368369493 | CYP3A4 | c.1078G>T (p.Val360Leu) n.513G>T c.619G>T (p.Val207Leu) c.931G>T (p.Val311Leu) c.628G>T (p.Val210Leu) c.1075G>T (p.Val359Leu) | |
| 7 | g.99762216C>G | CA368369492 | CYP3A4 | c.1078G>C (p.Val360Leu) n.513G>C c.619G>C (p.Val207Leu) c.931G>C (p.Val311Leu) c.628G>C (p.Val210Leu) c.1075G>C (p.Val359Leu) | |
| 7 | g.99762216C>T | CA368369491 | CYP3A4 | c.1078G>A (p.Val360Met) n.513G>A c.619G>A (p.Val207Met) c.931G>A (p.Val311Met) c.628G>A (p.Val210Met) c.1075G>A (p.Val359Met) | |
| 7 | g.99762217C>A | CA456687226 | CYP3A4 | c.1077G>T (p.Val359=) n.512G>T c.618G>T (p.Val206=) c.930G>T (p.Val310=) c.627G>T (p.Val209=) c.1074G>T (p.Val358=) | |
| 7 | g.99762217C>G | CA456687227 | CYP3A4 | c.1077G>C (p.Val359=) n.512G>C c.618G>C (p.Val206=) c.930G>C (p.Val310=) c.627G>C (p.Val209=) c.1074G>C (p.Val358=) | |
| 7 | g.99762217C>T | CA456687228 | CYP3A4 | c.1077G>A (p.Val359=) n.512G>A c.618G>A (p.Val206=) c.930G>A (p.Val310=) c.627G>A (p.Val209=) c.1074G>A (p.Val358=) | gnomAD v4 |
| 7 | g.99762218A= | CA1729177358 | CYP3A4 | c.1076T= (p.Val359=) n.511T= c.617T= (p.Val206=) c.929T= (p.Val310=) c.626T= (p.Val209=) c.1073T= (p.Val358=) | |
| 7 | g.99762218A>C | CA368369494 | CYP3A4 | c.1076T>G (p.Val359Gly) n.511T>G c.617T>G (p.Val206Gly) c.929T>G (p.Val310Gly) c.626T>G (p.Val209Gly) c.1073T>G (p.Val358Gly) | |
| 7 | g.99762218A>G | CA16309262 | CYP3A4 | c.1076T>C (p.Val359Ala) n.511T>C c.617T>C (p.Val206Ala) c.929T>C (p.Val310Ala) c.626T>C (p.Val209Ala) c.1073T>C (p.Val358Ala) | dbSNP |
| 7 | g.99762218A>T | CA163151584 | CYP3A4 | c.1076T>A (p.Val359Glu) n.511T>A c.617T>A (p.Val206Glu) c.929T>A (p.Val310Glu) c.626T>A (p.Val209Glu) c.1073T>A (p.Val358Glu) | dbSNP |
| 7 | g.99762219C>A | CA368369495 | CYP3A4 | c.1075G>T (p.Val359Leu) n.510G>T c.616G>T (p.Val206Leu) c.928G>T (p.Val310Leu) c.625G>T (p.Val209Leu) c.1072G>T (p.Val358Leu) | |
| 7 | g.99762219C>G | CA368369496 | CYP3A4 | c.1075G>C (p.Val359Leu) n.510G>C c.616G>C (p.Val206Leu) c.928G>C (p.Val310Leu) c.625G>C (p.Val209Leu) c.1072G>C (p.Val358Leu) | |
| 7 | g.99762219C>T | CA368369497 | CYP3A4 | c.1075G>A (p.Val359Met) n.510G>A c.616G>A (p.Val206Met) c.928G>A (p.Val310Met) c.625G>A (p.Val209Met) c.1072G>A (p.Val358Met) | |
| 7 | g.99762220C>A | CA368369498 | CYP3A4 | c.1074G>T (p.Met358Ile) n.509G>T c.615G>T (p.Met205Ile) c.927G>T (p.Met309Ile) c.624G>T (p.Met208Ile) c.1071G>T (p.Met357Ile) |