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.99760836G>A | CA4369481 | CYP3A4 | c.1492C>T (p.Pro498Ser) n.834C>T c.1399C>T (p.Pro467Ser) c.940C>T (p.Pro314Ser) c.1252C>T (p.Pro418Ser) c.949C>T (p.Pro317Ser) c.1396C>T (p.Pro466Ser) c.1489C>T (p.Pro497Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760836G>C | CA368367575 | CYP3A4 | c.1492C>G (p.Pro498Ala) n.834C>G c.1399C>G (p.Pro467Ala) c.940C>G (p.Pro314Ala) c.1252C>G (p.Pro418Ala) c.949C>G (p.Pro317Ala) c.1396C>G (p.Pro466Ala) c.1489C>G (p.Pro497Ala) | dbSNP gnomAD v2 |
| 7 | g.99760836G= | CA1729176737 | CYP3A4 | c.1492C= (p.Pro498=) n.834C= c.1399C= (p.Pro467=) c.940C= (p.Pro314=) c.1252C= (p.Pro418=) c.949C= (p.Pro317=) c.1396C= (p.Pro466=) c.1489C= (p.Pro497=) | |
| 7 | g.99760836G>T | CA368367577 | CYP3A4 | c.1492C>A (p.Pro498Thr) n.834C>A c.1399C>A (p.Pro467Thr) c.940C>A (p.Pro314Thr) c.1252C>A (p.Pro418Thr) c.949C>A (p.Pro317Thr) c.1396C>A (p.Pro466Thr) c.1489C>A (p.Pro497Thr) | |
| 7 | g.99760837T>A | CA368367578 | CYP3A4 | c.1491A>T (p.Lys497Asn) n.833A>T c.1398A>T (p.Lys466Asn) c.939A>T (p.Lys313Asn) c.1251A>T (p.Lys417Asn) c.948A>T (p.Lys316Asn) c.1395A>T (p.Lys465Asn) c.1488A>T (p.Lys496Asn) | |
| 7 | g.99760837T>C | CA456686435 | CYP3A4 | c.1491A>G (p.Lys497=) n.833A>G c.1398A>G (p.Lys466=) c.939A>G (p.Lys313=) c.1251A>G (p.Lys417=) c.948A>G (p.Lys316=) c.1395A>G (p.Lys465=) c.1488A>G (p.Lys496=) | |
| 7 | g.99760837T>G | CA368367580 | CYP3A4 | c.1491A>C (p.Lys497Asn) n.833A>C c.1398A>C (p.Lys466Asn) c.939A>C (p.Lys313Asn) c.1251A>C (p.Lys417Asn) c.948A>C (p.Lys316Asn) c.1395A>C (p.Lys465Asn) c.1488A>C (p.Lys496Asn) | |
| 7 | g.99760838T>A | CA368367581 | CYP3A4 | c.1490A>T (p.Lys497Ile) n.832A>T c.1397A>T (p.Lys466Ile) c.938A>T (p.Lys313Ile) c.1250A>T (p.Lys417Ile) c.947A>T (p.Lys316Ile) c.1394A>T (p.Lys465Ile) c.1487A>T (p.Lys496Ile) | |
| 7 | g.99760838T>C | CA368367583 | CYP3A4 | c.1490A>G (p.Lys497Arg) n.832A>G c.1397A>G (p.Lys466Arg) c.938A>G (p.Lys313Arg) c.1250A>G (p.Lys417Arg) c.947A>G (p.Lys316Arg) c.1394A>G (p.Lys465Arg) c.1487A>G (p.Lys496Arg) | dbSNP |
| 7 | g.99760838T>G | CA368367585 | CYP3A4 | c.1490A>C (p.Lys497Thr) n.832A>C c.1397A>C (p.Lys466Thr) c.938A>C (p.Lys313Thr) c.1250A>C (p.Lys417Thr) c.947A>C (p.Lys316Thr) c.1394A>C (p.Lys465Thr) c.1487A>C (p.Lys496Thr) | |
| 7 | g.99760838T= | CA1729176738 | CYP3A4 | c.1490A= (p.Lys497=) n.832A= c.1397A= (p.Lys466=) c.938A= (p.Lys313=) c.1250A= (p.Lys417=) c.947A= (p.Lys316=) c.1394A= (p.Lys465=) c.1487A= (p.Lys496=) | |
| 7 | g.99760839T>A | CA368367586 | CYP3A4 | c.1489A>T (p.Lys497Ter) n.831A>T c.1396A>T (p.Lys466Ter) c.937A>T (p.Lys313Ter) c.1249A>T (p.Lys417Ter) c.946A>T (p.Lys316Ter) c.1393A>T (p.Lys465Ter) c.1486A>T (p.Lys496Ter) | |
| 7 | g.99760839T>C | CA368367588 | CYP3A4 | c.1489A>G (p.Lys497Glu) n.831A>G c.1396A>G (p.Lys466Glu) c.937A>G (p.Lys313Glu) c.1249A>G (p.Lys417Glu) c.946A>G (p.Lys316Glu) c.1393A>G (p.Lys465Glu) c.1486A>G (p.Lys496Glu) | |
| 7 | g.99760839T>G | CA368367590 | CYP3A4 | c.1489A>C (p.Lys497Gln) n.831A>C c.1396A>C (p.Lys466Gln) c.937A>C (p.Lys313Gln) c.1249A>C (p.Lys417Gln) c.946A>C (p.Lys316Gln) c.1393A>C (p.Lys465Gln) c.1486A>C (p.Lys496Gln) | |
| 7 | g.99760840G>A | CA456686437 | CYP3A4 | c.1488C>T (p.Phe496=) n.830C>T c.1395C>T (p.Phe465=) c.936C>T (p.Phe312=) c.1248C>T (p.Phe416=) c.945C>T (p.Phe315=) c.1392C>T (p.Phe464=) c.1485C>T (p.Phe495=) | |
| 7 | g.99760840G>C | CA368367592 | CYP3A4 | c.1488C>G (p.Phe496Leu) n.830C>G c.1395C>G (p.Phe465Leu) c.936C>G (p.Phe312Leu) c.1248C>G (p.Phe416Leu) c.945C>G (p.Phe315Leu) c.1392C>G (p.Phe464Leu) c.1485C>G (p.Phe495Leu) | |
| 7 | g.99760840G>T | CA368367593 | CYP3A4 | c.1488C>A (p.Phe496Leu) n.830C>A c.1395C>A (p.Phe465Leu) c.936C>A (p.Phe312Leu) c.1248C>A (p.Phe416Leu) c.945C>A (p.Phe315Leu) c.1392C>A (p.Phe464Leu) c.1485C>A (p.Phe495Leu) | |
| 7 | g.99760841A>C | CA368367596 | CYP3A4 | c.1487T>G (p.Phe496Cys) n.829T>G c.1394T>G (p.Phe465Cys) c.935T>G (p.Phe312Cys) c.1247T>G (p.Phe416Cys) c.944T>G (p.Phe315Cys) c.1391T>G (p.Phe464Cys) c.1484T>G (p.Phe495Cys) | |
| 7 | g.99760841A>G | CA368367599 | CYP3A4 | c.1487T>C (p.Phe496Ser) n.829T>C c.1394T>C (p.Phe465Ser) c.935T>C (p.Phe312Ser) c.1247T>C (p.Phe416Ser) c.944T>C (p.Phe315Ser) c.1391T>C (p.Phe464Ser) c.1484T>C (p.Phe495Ser) | |
| 7 | g.99760841A>T | CA368367598 | CYP3A4 | c.1487T>A (p.Phe496Tyr) n.829T>A c.1394T>A (p.Phe465Tyr) c.935T>A (p.Phe312Tyr) c.1247T>A (p.Phe416Tyr) c.944T>A (p.Phe315Tyr) c.1391T>A (p.Phe464Tyr) c.1484T>A (p.Phe495Tyr) | |
| 7 | g.99760841_99760844delinsAAGG | CA1729176739 | CYP3A4 | c.1484_1487delinsCCTT (p.Ser495=) n.826_829delinsCCTT c.1391_1394delinsCCTT (p.Ser464=) c.932_935delinsCCTT (p.Ser311=) c.1244_1247delinsCCTT (p.Ser415=) c.941_944delinsCCTT (p.Ser314=) c.1388_1391delinsCCTT (p.Ser463=) c.1481_1484delinsCCTT (p.Ser494=) | |
| 7 | g.99760842A= | CA1729176740 | CYP3A4 | c.1486T= (p.Phe496=) n.828T= c.1393T= (p.Phe465=) c.934T= (p.Phe312=) c.1246T= (p.Phe416=) c.943T= (p.Phe315=) c.1390T= (p.Phe464=) c.1483T= (p.Phe495=) | |
| 7 | g.99760842A>C | CA368367603 | CYP3A4 | c.1486T>G (p.Phe496Val) n.828T>G c.1393T>G (p.Phe465Val) c.934T>G (p.Phe312Val) c.1246T>G (p.Phe416Val) c.943T>G (p.Phe315Val) c.1390T>G (p.Phe464Val) c.1483T>G (p.Phe495Val) | |
| 7 | g.99760842A>G | CA368367605 | CYP3A4 | c.1486T>C (p.Phe496Leu) n.828T>C c.1393T>C (p.Phe465Leu) c.934T>C (p.Phe312Leu) c.1246T>C (p.Phe416Leu) c.943T>C (p.Phe315Leu) c.1390T>C (p.Phe464Leu) c.1483T>C (p.Phe495Leu) | |
| 7 | g.99760842A>T | CA368367607 | CYP3A4 | c.1486T>A (p.Phe496Ile) n.828T>A c.1393T>A (p.Phe465Ile) c.934T>A (p.Phe312Ile) c.1246T>A (p.Phe416Ile) c.943T>A (p.Phe315Ile) c.1390T>A (p.Phe464Ile) c.1483T>A (p.Phe495Ile) | |
| 7 | g.99760844_99760846del | CA4369482 | CYP3A4 | c.1484_1486del (p.Ser495del) n.826_828del c.1391_1393del (p.Ser464del) c.932_934del (p.Ser311del) c.1244_1246del (p.Ser415del) c.941_943del (p.Ser314del) c.1388_1390del (p.Ser463del) c.1481_1483del (p.Ser494del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760843G>A | CA456686443 | CYP3A4 | c.1485C>T (p.Ser495=) n.827C>T c.1392C>T (p.Ser464=) c.933C>T (p.Ser311=) c.1245C>T (p.Ser415=) c.942C>T (p.Ser314=) c.1389C>T (p.Ser463=) c.1482C>T (p.Ser494=) | dbSNP gnomAD v4 |
| 7 | g.99760843G>C | CA456686442 | CYP3A4 | c.1485C>G (p.Ser495=) n.827C>G c.1392C>G (p.Ser464=) c.933C>G (p.Ser311=) c.1245C>G (p.Ser415=) c.942C>G (p.Ser314=) c.1389C>G (p.Ser463=) c.1482C>G (p.Ser494=) | |
| 7 | g.99760843G>T | CA456686441 | CYP3A4 | c.1485C>A (p.Ser495=) n.827C>A c.1392C>A (p.Ser464=) c.933C>A (p.Ser311=) c.1245C>A (p.Ser415=) c.942C>A (p.Ser314=) c.1389C>A (p.Ser463=) c.1482C>A (p.Ser494=) | |
| 7 | g.99760844dup | CA163151098 | CYP3A4 | c.1485dup (p.Phe496LeufsTer5) n.827dup c.1392dup (p.Phe465LeufsTer5) c.933dup (p.Phe312LeufsTer5) c.1245dup (p.Phe416LeufsTer5) c.942dup (p.Phe315LeufsTer5) c.1389dup (p.Phe464LeufsTer5) c.1482dup (p.Phe495LeufsTer5) | dbSNP |
| 7 | g.99760844G>A | CA4369483 | CYP3A4 | c.1484C>T (p.Ser495Phe) n.826C>T c.1391C>T (p.Ser464Phe) c.932C>T (p.Ser311Phe) c.1244C>T (p.Ser415Phe) c.941C>T (p.Ser314Phe) c.1388C>T (p.Ser463Phe) c.1481C>T (p.Ser494Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760844G>C | CA368367611 | CYP3A4 | c.1484C>G (p.Ser495Cys) n.826C>G c.1391C>G (p.Ser464Cys) c.932C>G (p.Ser311Cys) c.1244C>G (p.Ser415Cys) c.941C>G (p.Ser314Cys) c.1388C>G (p.Ser463Cys) c.1481C>G (p.Ser494Cys) | |
| 7 | g.99760844G= | CA1729176741 | CYP3A4 | c.1484C= (p.Ser495=) n.826C= c.1391C= (p.Ser464=) c.932C= (p.Ser311=) c.1244C= (p.Ser415=) c.941C= (p.Ser314=) c.1388C= (p.Ser463=) c.1481C= (p.Ser494=) | |
| 7 | g.99760844G>T | CA368367613 | CYP3A4 | c.1484C>A (p.Ser495Tyr) n.826C>A c.1391C>A (p.Ser464Tyr) c.932C>A (p.Ser311Tyr) c.1244C>A (p.Ser415Tyr) c.941C>A (p.Ser314Tyr) c.1388C>A (p.Ser463Tyr) c.1481C>A (p.Ser494Tyr) | |
| 7 | g.99760845A= | CA1729176742 | CYP3A4 | c.1483T= (p.Ser495=) n.825T= c.1390T= (p.Ser464=) c.931T= (p.Ser311=) c.1243T= (p.Ser415=) c.940T= (p.Ser314=) c.1387T= (p.Ser463=) c.1480T= (p.Ser494=) | |
| 7 | g.99760845A>C | CA368367615 | CYP3A4 | c.1483T>G (p.Ser495Ala) n.825T>G c.1390T>G (p.Ser464Ala) c.931T>G (p.Ser311Ala) c.1243T>G (p.Ser415Ala) c.940T>G (p.Ser314Ala) c.1387T>G (p.Ser463Ala) c.1480T>G (p.Ser494Ala) | |
| 7 | g.99760845A>G | CA368367616 | CYP3A4 | c.1483T>C (p.Ser495Pro) n.825T>C c.1390T>C (p.Ser464Pro) c.931T>C (p.Ser311Pro) c.1243T>C (p.Ser415Pro) c.940T>C (p.Ser314Pro) c.1387T>C (p.Ser463Pro) c.1480T>C (p.Ser494Pro) | |
| 7 | g.99760845A>T | CA4369484 | CYP3A4 | c.1483T>A (p.Ser495Thr) n.825T>A c.1390T>A (p.Ser464Thr) c.931T>A (p.Ser311Thr) c.1243T>A (p.Ser415Thr) c.940T>A (p.Ser314Thr) c.1387T>A (p.Ser463Thr) c.1480T>A (p.Ser494Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99760846G>A | CA456686445 | CYP3A4 | c.1482C>T (p.Phe494=) n.824C>T c.1389C>T (p.Phe463=) c.930C>T (p.Phe310=) c.1242C>T (p.Phe414=) c.939C>T (p.Phe313=) c.1386C>T (p.Phe462=) c.1479C>T (p.Phe493=) | |
| 7 | g.99760846G>C | CA368367620 | CYP3A4 | c.1482C>G (p.Phe494Leu) n.824C>G c.1389C>G (p.Phe463Leu) c.930C>G (p.Phe310Leu) c.1242C>G (p.Phe414Leu) c.939C>G (p.Phe313Leu) c.1386C>G (p.Phe462Leu) c.1479C>G (p.Phe493Leu) | |
| 7 | g.99760846G>T | CA368367621 | CYP3A4 | c.1482C>A (p.Phe494Leu) n.824C>A c.1389C>A (p.Phe463Leu) c.930C>A (p.Phe310Leu) c.1242C>A (p.Phe414Leu) c.939C>A (p.Phe313Leu) c.1386C>A (p.Phe462Leu) c.1479C>A (p.Phe493Leu) | |
| 7 | g.99760847A= | CA1729176743 | CYP3A4 | c.1481T= (p.Phe494=) n.823T= c.1388T= (p.Phe463=) c.929T= (p.Phe310=) c.1241T= (p.Phe414=) c.938T= (p.Phe313=) c.1385T= (p.Phe462=) c.1478T= (p.Phe493=) | |
| 7 | g.99760847A>C | CA163151106 | CYP3A4 | c.1481T>G (p.Phe494Cys) n.823T>G c.1388T>G (p.Phe463Cys) c.929T>G (p.Phe310Cys) c.1241T>G (p.Phe414Cys) c.938T>G (p.Phe313Cys) c.1385T>G (p.Phe462Cys) c.1478T>G (p.Phe493Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.99760847A>G | CA368367624 | CYP3A4 | c.1481T>C (p.Phe494Ser) n.823T>C c.1388T>C (p.Phe463Ser) c.929T>C (p.Phe310Ser) c.1241T>C (p.Phe414Ser) c.938T>C (p.Phe313Ser) c.1385T>C (p.Phe462Ser) c.1478T>C (p.Phe493Ser) | |
| 7 | g.99760847A>T | CA368367626 | CYP3A4 | c.1481T>A (p.Phe494Tyr) n.823T>A c.1388T>A (p.Phe463Tyr) c.929T>A (p.Phe310Tyr) c.1241T>A (p.Phe414Tyr) c.938T>A (p.Phe313Tyr) c.1385T>A (p.Phe462Tyr) c.1478T>A (p.Phe493Tyr) | |
| 7 | g.99760848A>C | CA368367631 | CYP3A4 | c.1480T>G (p.Phe494Val) n.822T>G c.1387T>G (p.Phe463Val) c.928T>G (p.Phe310Val) c.1240T>G (p.Phe414Val) c.937T>G (p.Phe313Val) c.1384T>G (p.Phe462Val) c.1477T>G (p.Phe493Val) | |
| 7 | g.99760848A>G | CA368367630 | CYP3A4 | c.1480T>C (p.Phe494Leu) n.822T>C c.1387T>C (p.Phe463Leu) c.928T>C (p.Phe310Leu) c.1240T>C (p.Phe414Leu) c.937T>C (p.Phe313Leu) c.1384T>C (p.Phe462Leu) c.1477T>C (p.Phe493Leu) | |
| 7 | g.99760848A>T | CA368367628 | CYP3A4 | c.1480T>A (p.Phe494Ile) n.822T>A c.1387T>A (p.Phe463Ile) c.928T>A (p.Phe310Ile) c.1240T>A (p.Phe414Ile) c.937T>A (p.Phe313Ile) c.1384T>A (p.Phe462Ile) c.1477T>A (p.Phe493Ile) | |
| 7 | g.99760849G>A | CA456686448 | CYP3A4 | c.1479C>T (p.Asn493=) n.821C>T c.1386C>T (p.Asn462=) c.927C>T (p.Asn309=) c.1239C>T (p.Asn413=) c.936C>T (p.Asn312=) c.1383C>T (p.Asn461=) c.1476C>T (p.Asn492=) | |
| 7 | g.99760849G>C | CA368367636 | CYP3A4 | c.1479C>G (p.Asn493Lys) n.821C>G c.1386C>G (p.Asn462Lys) c.927C>G (p.Asn309Lys) c.1239C>G (p.Asn413Lys) c.936C>G (p.Asn312Lys) c.1383C>G (p.Asn461Lys) c.1476C>G (p.Asn492Lys) |