Canonical Allele Identifier: CA368373289
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99770129-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99770129A>G , CM000669.2:g.99770129A>G GRCh38
NC_000007.13:g.99367752A>G , CM000669.1:g.99367752A>G GRCh37
NC_000007.12:g.99205688A>G NCBI36
NG_008421.1:g.19057T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.425T>C ENSP00000337915.3:p.Leu142Pro
ENST00000651514.1:c.425T>C MANE Select ENSP00000498939.1:p.Leu142Pro
ENST00000651783.1:c.58-1622T>C ENSP00000498924.1:n.58-1622T>C
ENST00000652018.1:c.278T>C ENSP00000498733.1:p.Leu93Pro
ENST00000336411.6:c.425T>C ENSP00000337915.2:p.Leu142Pro
ENST00000354593.6:c.72-1627T>C ENSP00000346607.2:n.72-1627T>C
ENST00000480043.1:n.322T>C
NM_001202855.2:c.425T>C NP_001189784.1:p.Leu142Pro
NM_017460.5:c.425T>C NP_059488.2:p.Leu142Pro
XM_011515841.1:c.425T>C XP_011514143.1:p.Leu142Pro
XM_011515842.1:c.425T>C XP_011514144.1:p.Leu142Pro
NM_017460.6:c.425T>C MANE Select NP_059488.2:p.Leu142Pro
NM_001202855.3:c.425T>C NP_001189784.1:p.Leu142Pro