Canonical Allele Identifier: CA368368612
Gene: CYP3A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3079615
ClinVar RCV Id: RCV004370459
gnomAD v4: 7-99760908-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760908T>C , CM000669.2:g.99760908T>C GRCh38
NC_000007.13:g.99358531T>C , CM000669.1:g.99358531T>C GRCh37
NC_000007.12:g.99196467T>C NCBI36
NG_008421.1:g.28278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1420A>G ENSP00000337915.3:p.Ile474Val
ENST00000651162.1:n.762A>G
ENST00000651514.1:c.1327A>G MANE Select ENSP00000498939.1:p.Ile443Val
ENST00000651783.1:c.868A>G ENSP00000498924.1:p.Ile290Val
ENST00000652018.1:c.1180A>G ENSP00000498733.1:p.Ile394Val
ENST00000336411.6:c.1327A>G ENSP00000337915.2:p.Ile443Val
ENST00000354593.6:c.877A>G ENSP00000346607.2:p.Ile293Val
NM_001202855.2:c.1324A>G NP_001189784.1:p.Ile442Val
NM_017460.5:c.1327A>G NP_059488.2:p.Ile443Val
XM_011515841.1:c.1420A>G XP_011514143.1:p.Ile474Val
XM_011515842.1:c.1417A>G XP_011514144.1:p.Ile473Val
NM_017460.6:c.1327A>G MANE Select NP_059488.2:p.Ile443Val
NM_001202855.3:c.1324A>G NP_001189784.1:p.Ile442Val