Canonical Allele Identifier: CA368367634
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1291353683
gnomAD v2: 7-99358472-G-T
gnomAD v3: 7-99760849-G-T
gnomAD v4: 7-99760849-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760849G>T , CM000669.2:g.99760849G>T GRCh38
NC_000007.13:g.99358472G>T , CM000669.1:g.99358472G>T GRCh37
NC_000007.12:g.99196408G>T NCBI36
NG_008421.1:g.28337C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1479C>A ENSP00000337915.3:p.Asn493Lys
ENST00000651162.1:n.821C>A
ENST00000651514.1:c.1386C>A MANE Select ENSP00000498939.1:p.Asn462Lys
ENST00000651783.1:c.927C>A ENSP00000498924.1:p.Asn309Lys
ENST00000652018.1:c.1239C>A ENSP00000498733.1:p.Asn413Lys
ENST00000336411.6:c.1386C>A ENSP00000337915.2:p.Asn462Lys
ENST00000354593.6:c.936C>A ENSP00000346607.2:p.Asn312Lys
NM_001202855.2:c.1383C>A NP_001189784.1:p.Asn461Lys
NM_017460.5:c.1386C>A NP_059488.2:p.Asn462Lys
XM_011515841.1:c.1479C>A XP_011514143.1:p.Asn493Lys
XM_011515842.1:c.1476C>A XP_011514144.1:p.Asn492Lys
NM_017460.6:c.1386C>A MANE Select NP_059488.2:p.Asn462Lys
NM_001202855.3:c.1383C>A NP_001189784.1:p.Asn461Lys