Canonical Allele Identifier: CA368368570
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99760889-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760889A>G , CM000669.2:g.99760889A>G GRCh38
NC_000007.13:g.99358512A>G , CM000669.1:g.99358512A>G GRCh37
NC_000007.12:g.99196448A>G NCBI36
NG_008421.1:g.28297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1439T>C ENSP00000337915.3:p.Leu480Pro
ENST00000651162.1:n.781T>C
ENST00000651514.1:c.1346T>C MANE Select ENSP00000498939.1:p.Leu449Pro
ENST00000651783.1:c.887T>C ENSP00000498924.1:p.Leu296Pro
ENST00000652018.1:c.1199T>C ENSP00000498733.1:p.Leu400Pro
ENST00000336411.6:c.1346T>C ENSP00000337915.2:p.Leu449Pro
ENST00000354593.6:c.896T>C ENSP00000346607.2:p.Leu299Pro
NM_001202855.2:c.1343T>C NP_001189784.1:p.Leu448Pro
NM_017460.5:c.1346T>C NP_059488.2:p.Leu449Pro
XM_011515841.1:c.1439T>C XP_011514143.1:p.Leu480Pro
XM_011515842.1:c.1436T>C XP_011514144.1:p.Leu479Pro
NM_017460.6:c.1346T>C MANE Select NP_059488.2:p.Leu449Pro
NM_001202855.3:c.1343T>C NP_001189784.1:p.Leu448Pro