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.99760819C>A | CA368367503 | CYP3A4 | c.1509G>T (p.Gln503His) n.851G>T c.1416G>T (p.Gln472His) c.957G>T (p.Gln319His) c.1269G>T (p.Gln423His) c.966G>T (p.Gln322His) c.1413G>T (p.Gln471His) c.1506G>T (p.Gln502His) | |
| 7 | g.99760819C= | CA1729176729 | CYP3A4 | c.1509G= (p.Gln503=) n.851G= c.1416G= (p.Gln472=) c.957G= (p.Gln319=) c.1269G= (p.Gln423=) c.966G= (p.Gln322=) c.1413G= (p.Gln471=) c.1506G= (p.Gln502=) | |
| 7 | g.99760819C>G | CA368367505 | CYP3A4 | c.1509G>C (p.Gln503His) n.851G>C c.1416G>C (p.Gln472His) c.957G>C (p.Gln319His) c.1269G>C (p.Gln423His) c.966G>C (p.Gln322His) c.1413G>C (p.Gln471His) c.1506G>C (p.Gln502His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760819C>T | CA456686415 | CYP3A4 | c.1509G>A (p.Gln503=) n.851G>A c.1416G>A (p.Gln472=) c.957G>A (p.Gln319=) c.1269G>A (p.Gln423=) c.966G>A (p.Gln322=) c.1413G>A (p.Gln471=) c.1506G>A (p.Gln502=) | |
| 7 | g.99760820T>A | CA368367508 | CYP3A4 | c.1508A>T (p.Gln503Leu) n.850A>T c.1415A>T (p.Gln472Leu) c.956A>T (p.Gln319Leu) c.1268A>T (p.Gln423Leu) c.965A>T (p.Gln322Leu) c.1412A>T (p.Gln471Leu) c.1505A>T (p.Gln502Leu) | gnomAD v4 |
| 7 | g.99760820T>C | CA4369479 | CYP3A4 | c.1508A>G (p.Gln503Arg) n.850A>G c.1415A>G (p.Gln472Arg) c.956A>G (p.Gln319Arg) c.1268A>G (p.Gln423Arg) c.965A>G (p.Gln322Arg) c.1412A>G (p.Gln471Arg) c.1505A>G (p.Gln502Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760820T>G | CA368367510 | CYP3A4 | c.1508A>C (p.Gln503Pro) n.850A>C c.1415A>C (p.Gln472Pro) c.956A>C (p.Gln319Pro) c.1268A>C (p.Gln423Pro) c.965A>C (p.Gln322Pro) c.1412A>C (p.Gln471Pro) c.1505A>C (p.Gln502Pro) | |
| 7 | g.99760820T= | CA1729176730 | CYP3A4 | c.1508A= (p.Gln503=) n.850A= c.1415A= (p.Gln472=) c.956A= (p.Gln319=) c.1268A= (p.Gln423=) c.965A= (p.Gln322=) c.1412A= (p.Gln471=) c.1505A= (p.Gln502=) | |
| 7 | g.99760821G>A | CA4369480 | CYP3A4 | c.1507C>T (p.Gln503Ter) n.849C>T c.1414C>T (p.Gln472Ter) c.955C>T (p.Gln319Ter) c.1267C>T (p.Gln423Ter) c.964C>T (p.Gln322Ter) c.1411C>T (p.Gln471Ter) c.1504C>T (p.Gln502Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.99760821G>C | CA368367512 | CYP3A4 | c.1507C>G (p.Gln503Glu) n.849C>G c.1414C>G (p.Gln472Glu) c.955C>G (p.Gln319Glu) c.1267C>G (p.Gln423Glu) c.964C>G (p.Gln322Glu) c.1411C>G (p.Gln471Glu) c.1504C>G (p.Gln502Glu) | |
| 7 | g.99760821G= | CA1729176731 | CYP3A4 | c.1507C= (p.Gln503=) n.849C= c.1414C= (p.Gln472=) c.955C= (p.Gln319=) c.1267C= (p.Gln423=) c.964C= (p.Gln322=) c.1411C= (p.Gln471=) c.1504C= (p.Gln502=) | |
| 7 | g.99760821G>T | CA368367513 | CYP3A4 | c.1507C>A (p.Gln503Lys) n.849C>A c.1414C>A (p.Gln472Lys) c.955C>A (p.Gln319Lys) c.1267C>A (p.Gln423Lys) c.964C>A (p.Gln322Lys) c.1411C>A (p.Gln471Lys) c.1504C>A (p.Gln502Lys) | |
| 7 | g.99760822T>A | CA456686416 | CYP3A4 | c.1506A>T (p.Thr502=) n.848A>T c.1413A>T (p.Thr471=) c.954A>T (p.Thr318=) c.1266A>T (p.Thr422=) c.963A>T (p.Thr321=) c.1410A>T (p.Thr470=) c.1503A>T (p.Thr501=) | |
| 7 | g.99760822T>C | CA456686417 | CYP3A4 | c.1506A>G (p.Thr502=) n.848A>G c.1413A>G (p.Thr471=) c.954A>G (p.Thr318=) c.1266A>G (p.Thr422=) c.963A>G (p.Thr321=) c.1410A>G (p.Thr470=) c.1503A>G (p.Thr501=) | |
| 7 | g.99760822T>G | CA456686418 | CYP3A4 | c.1506A>C (p.Thr502=) n.848A>C c.1413A>C (p.Thr471=) c.954A>C (p.Thr318=) c.1266A>C (p.Thr422=) c.963A>C (p.Thr321=) c.1410A>C (p.Thr470=) c.1503A>C (p.Thr501=) | |
| 7 | g.99760823G>A | CA368367516 | CYP3A4 | c.1505C>T (p.Thr502Ile) n.847C>T c.1412C>T (p.Thr471Ile) c.953C>T (p.Thr318Ile) c.1265C>T (p.Thr422Ile) c.962C>T (p.Thr321Ile) c.1409C>T (p.Thr470Ile) c.1502C>T (p.Thr501Ile) | |
| 7 | g.99760823G>C | CA368367518 | CYP3A4 | c.1505C>G (p.Thr502Arg) n.847C>G c.1412C>G (p.Thr471Arg) c.953C>G (p.Thr318Arg) c.1265C>G (p.Thr422Arg) c.962C>G (p.Thr321Arg) c.1409C>G (p.Thr470Arg) c.1502C>G (p.Thr501Arg) | |
| 7 | g.99760823G>T | CA368367519 | CYP3A4 | c.1505C>A (p.Thr502Lys) n.847C>A c.1412C>A (p.Thr471Lys) c.953C>A (p.Thr318Lys) c.1265C>A (p.Thr422Lys) c.962C>A (p.Thr321Lys) c.1409C>A (p.Thr470Lys) c.1502C>A (p.Thr501Lys) | |
| 7 | g.99760823_99760827delinsGTTTC | CA1729176732 | CYP3A4 | c.1501_1505delinsGAAAC (p.Glu501=) n.843_847delinsGAAAC c.1408_1412delinsGAAAC (p.Glu470=) c.949_953delinsGAAAC (p.Glu317=) c.1261_1265delinsGAAAC (p.Glu421=) c.958_962delinsGAAAC (p.Glu320=) c.1405_1409delinsGAAAC (p.Glu469=) c.1498_1502delinsGAAAC (p.Glu500=) | |
| 7 | g.99760824T>A | CA368367525 | CYP3A4 | c.1504A>T (p.Thr502Ser) n.846A>T c.1411A>T (p.Thr471Ser) c.952A>T (p.Thr318Ser) c.1264A>T (p.Thr422Ser) c.961A>T (p.Thr321Ser) c.1408A>T (p.Thr470Ser) c.1501A>T (p.Thr501Ser) | |
| 7 | g.99760824T>C | CA368367523 | CYP3A4 | c.1504A>G (p.Thr502Ala) n.846A>G c.1411A>G (p.Thr471Ala) c.952A>G (p.Thr318Ala) c.1264A>G (p.Thr422Ala) c.961A>G (p.Thr321Ala) c.1408A>G (p.Thr470Ala) c.1501A>G (p.Thr501Ala) | |
| 7 | g.99760824T>G | CA368367521 | CYP3A4 | c.1504A>C (p.Thr502Pro) n.846A>C c.1411A>C (p.Thr471Pro) c.952A>C (p.Thr318Pro) c.1264A>C (p.Thr422Pro) c.961A>C (p.Thr321Pro) c.1408A>C (p.Thr470Pro) c.1501A>C (p.Thr501Pro) | |
| 7 | g.99760827_99760830del | CA576400238 | CYP3A4 | c.1501_1504del (p.Glu501HisfsTer5) n.843_846del c.1408_1411del (p.Glu470HisfsTer5) c.949_952del (p.Glu317HisfsTer5) c.1261_1264del (p.Glu421HisfsTer5) c.958_961del (p.Glu320HisfsTer5) c.1405_1408del (p.Glu469HisfsTer5) c.1498_1501del (p.Glu500HisfsTer5) | dbSNP gnomAD v2 |
| 7 | g.99760825T>A | CA368367526 | CYP3A4 | c.1503A>T (p.Glu501Asp) n.845A>T c.1410A>T (p.Glu470Asp) c.951A>T (p.Glu317Asp) c.1263A>T (p.Glu421Asp) c.960A>T (p.Glu320Asp) c.1407A>T (p.Glu469Asp) c.1500A>T (p.Glu500Asp) | |
| 7 | g.99760825T>C | CA456686420 | CYP3A4 | c.1503A>G (p.Glu501=) n.845A>G c.1410A>G (p.Glu470=) c.951A>G (p.Glu317=) c.1263A>G (p.Glu421=) c.960A>G (p.Glu320=) c.1407A>G (p.Glu469=) c.1500A>G (p.Glu500=) | |
| 7 | g.99760825T>G | CA368367528 | CYP3A4 | c.1503A>C (p.Glu501Asp) n.845A>C c.1410A>C (p.Glu470Asp) c.951A>C (p.Glu317Asp) c.1263A>C (p.Glu421Asp) c.960A>C (p.Glu320Asp) c.1407A>C (p.Glu469Asp) c.1500A>C (p.Glu500Asp) | |
| 7 | g.99760826T>A | CA368367530 | CYP3A4 | c.1502A>T (p.Glu501Val) n.844A>T c.1409A>T (p.Glu470Val) c.950A>T (p.Glu317Val) c.1262A>T (p.Glu421Val) c.959A>T (p.Glu320Val) c.1406A>T (p.Glu469Val) c.1499A>T (p.Glu500Val) | |
| 7 | g.99760826T>C | CA368367532 | CYP3A4 | c.1502A>G (p.Glu501Gly) n.844A>G c.1409A>G (p.Glu470Gly) c.950A>G (p.Glu317Gly) c.1262A>G (p.Glu421Gly) c.959A>G (p.Glu320Gly) c.1406A>G (p.Glu469Gly) c.1499A>G (p.Glu500Gly) | |
| 7 | g.99760826T>G | CA368367533 | CYP3A4 | c.1502A>C (p.Glu501Ala) n.844A>C c.1409A>C (p.Glu470Ala) c.950A>C (p.Glu317Ala) c.1262A>C (p.Glu421Ala) c.959A>C (p.Glu320Ala) c.1406A>C (p.Glu469Ala) c.1499A>C (p.Glu500Ala) | |
| 7 | g.99760827C>A | CA368367535 | CYP3A4 | c.1501G>T (p.Glu501Ter) n.843G>T c.1408G>T (p.Glu470Ter) c.949G>T (p.Glu317Ter) c.1261G>T (p.Glu421Ter) c.958G>T (p.Glu320Ter) c.1405G>T (p.Glu469Ter) c.1498G>T (p.Glu500Ter) | |
| 7 | g.99760827C= | CA1729176733 | CYP3A4 | c.1501G= (p.Glu501=) n.843G= c.1408G= (p.Glu470=) c.949G= (p.Glu317=) c.1261G= (p.Glu421=) c.958G= (p.Glu320=) c.1405G= (p.Glu469=) c.1498G= (p.Glu500=) | |
| 7 | g.99760827C>G | CA368367537 | CYP3A4 | c.1501G>C (p.Glu501Gln) n.843G>C c.1408G>C (p.Glu470Gln) c.949G>C (p.Glu317Gln) c.1261G>C (p.Glu421Gln) c.958G>C (p.Glu320Gln) c.1405G>C (p.Glu469Gln) c.1498G>C (p.Glu500Gln) | gnomAD v4 |
| 7 | g.99760827C>T | CA163151091 | CYP3A4 | c.1501G>A (p.Glu501Lys) n.843G>A c.1408G>A (p.Glu470Lys) c.949G>A (p.Glu317Lys) c.1261G>A (p.Glu421Lys) c.958G>A (p.Glu320Lys) c.1405G>A (p.Glu469Lys) c.1498G>A (p.Glu500Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99760828T>A | CA368367539 | CYP3A4 | c.1500A>T (p.Lys500Asn) n.842A>T c.1407A>T (p.Lys469Asn) c.948A>T (p.Lys316Asn) c.1260A>T (p.Lys420Asn) c.957A>T (p.Lys319Asn) c.1404A>T (p.Lys468Asn) c.1497A>T (p.Lys499Asn) | |
| 7 | g.99760828T>C | CA456686422 | CYP3A4 | c.1500A>G (p.Lys500=) n.842A>G c.1407A>G (p.Lys469=) c.948A>G (p.Lys316=) c.1260A>G (p.Lys420=) c.957A>G (p.Lys319=) c.1404A>G (p.Lys468=) c.1497A>G (p.Lys499=) | |
| 7 | g.99760828T>G | CA368367541 | CYP3A4 | c.1500A>C (p.Lys500Asn) n.842A>C c.1407A>C (p.Lys469Asn) c.948A>C (p.Lys316Asn) c.1260A>C (p.Lys420Asn) c.957A>C (p.Lys319Asn) c.1404A>C (p.Lys468Asn) c.1497A>C (p.Lys499Asn) | |
| 7 | g.99760829T>A | CA368367543 | CYP3A4 | c.1499A>T (p.Lys500Ile) n.841A>T c.1406A>T (p.Lys469Ile) c.947A>T (p.Lys316Ile) c.1259A>T (p.Lys420Ile) c.956A>T (p.Lys319Ile) c.1403A>T (p.Lys468Ile) c.1496A>T (p.Lys499Ile) | |
| 7 | g.99760829T>C | CA368367544 | CYP3A4 | c.1499A>G (p.Lys500Arg) n.841A>G c.1406A>G (p.Lys469Arg) c.947A>G (p.Lys316Arg) c.1259A>G (p.Lys420Arg) c.956A>G (p.Lys319Arg) c.1403A>G (p.Lys468Arg) c.1496A>G (p.Lys499Arg) | |
| 7 | g.99760829T>G | CA368367545 | CYP3A4 | c.1499A>C (p.Lys500Thr) n.841A>C c.1406A>C (p.Lys469Thr) c.947A>C (p.Lys316Thr) c.1259A>C (p.Lys420Thr) c.956A>C (p.Lys319Thr) c.1403A>C (p.Lys468Thr) c.1496A>C (p.Lys499Thr) | |
| 7 | g.99760830T>A | CA368367547 | CYP3A4 | c.1498A>T (p.Lys500Ter) n.840A>T c.1405A>T (p.Lys469Ter) c.946A>T (p.Lys316Ter) c.1258A>T (p.Lys420Ter) c.955A>T (p.Lys319Ter) c.1402A>T (p.Lys468Ter) c.1495A>T (p.Lys499Ter) | |
| 7 | g.99760830T>C | CA368367549 | CYP3A4 | c.1498A>G (p.Lys500Glu) n.840A>G c.1405A>G (p.Lys469Glu) c.946A>G (p.Lys316Glu) c.1258A>G (p.Lys420Glu) c.955A>G (p.Lys319Glu) c.1402A>G (p.Lys468Glu) c.1495A>G (p.Lys499Glu) | |
| 7 | g.99760830T>G | CA368367551 | CYP3A4 | c.1498A>C (p.Lys500Gln) n.840A>C c.1405A>C (p.Lys469Gln) c.946A>C (p.Lys316Gln) c.1258A>C (p.Lys420Gln) c.955A>C (p.Lys319Gln) c.1402A>C (p.Lys468Gln) c.1495A>C (p.Lys499Gln) | |
| 7 | g.99760831A= | CA1729176734 | CYP3A4 | c.1497T= (p.Cys499=) n.839T= c.1404T= (p.Cys468=) c.945T= (p.Cys315=) c.1257T= (p.Cys419=) c.954T= (p.Cys318=) c.1401T= (p.Cys467=) c.1494T= (p.Cys498=) | |
| 7 | g.99760831A>C | CA368367552 | CYP3A4 | c.1497T>G (p.Cys499Trp) n.839T>G c.1404T>G (p.Cys468Trp) c.945T>G (p.Cys315Trp) c.1257T>G (p.Cys419Trp) c.954T>G (p.Cys318Trp) c.1401T>G (p.Cys467Trp) c.1494T>G (p.Cys498Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760831A>G | CA456686426 | CYP3A4 | c.1497T>C (p.Cys499=) n.839T>C c.1404T>C (p.Cys468=) c.945T>C (p.Cys315=) c.1257T>C (p.Cys419=) c.954T>C (p.Cys318=) c.1401T>C (p.Cys467=) c.1494T>C (p.Cys498=) | |
| 7 | g.99760831A>T | CA368367553 | CYP3A4 | c.1497T>A (p.Cys499Ter) n.839T>A c.1404T>A (p.Cys468Ter) c.945T>A (p.Cys315Ter) c.1257T>A (p.Cys419Ter) c.954T>A (p.Cys318Ter) c.1401T>A (p.Cys467Ter) c.1494T>A (p.Cys498Ter) | |
| 7 | g.99760832C>A | CA368367555 | CYP3A4 | c.1496G>T (p.Cys499Phe) n.838G>T c.1403G>T (p.Cys468Phe) c.944G>T (p.Cys315Phe) c.1256G>T (p.Cys419Phe) c.953G>T (p.Cys318Phe) c.1400G>T (p.Cys467Phe) c.1493G>T (p.Cys498Phe) | |
| 7 | g.99760832C= | CA1729176735 | CYP3A4 | c.1496G= (p.Cys499=) n.838G= c.1403G= (p.Cys468=) c.944G= (p.Cys315=) c.1256G= (p.Cys419=) c.953G= (p.Cys318=) c.1400G= (p.Cys467=) c.1493G= (p.Cys498=) | |
| 7 | g.99760832C>G | CA368367557 | CYP3A4 | c.1496G>C (p.Cys499Ser) n.838G>C c.1403G>C (p.Cys468Ser) c.944G>C (p.Cys315Ser) c.1256G>C (p.Cys419Ser) c.953G>C (p.Cys318Ser) c.1400G>C (p.Cys467Ser) c.1493G>C (p.Cys498Ser) | |
| 7 | g.99760832C>T | CA368367558 | CYP3A4 | c.1496G>A (p.Cys499Tyr) n.838G>A c.1403G>A (p.Cys468Tyr) c.944G>A (p.Cys315Tyr) c.1256G>A (p.Cys419Tyr) c.953G>A (p.Cys318Tyr) c.1400G>A (p.Cys467Tyr) c.1493G>A (p.Cys498Tyr) | dbSNP gnomAD v3 gnomAD v4 |