Canonical Allele Identifier: CA368370792
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99768391-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768391T>G , CM000669.2:g.99768391T>G GRCh38
NC_000007.13:g.99366014T>G , CM000669.1:g.99366014T>G GRCh37
NC_000007.12:g.99203950T>G NCBI36
NG_008421.1:g.20795A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.633A>C ENSP00000337915.3:p.Leu211Phe
ENST00000651514.1:c.633A>C MANE Select ENSP00000498939.1:p.Leu211Phe
ENST00000651783.1:c.174A>C ENSP00000498924.1:p.Leu58Phe
ENST00000652018.1:c.486A>C ENSP00000498733.1:p.Leu162Phe
ENST00000336411.6:c.633A>C ENSP00000337915.2:p.Leu211Phe
ENST00000354593.6:c.183A>C ENSP00000346607.2:p.Leu61Phe
NM_001202855.2:c.633A>C NP_001189784.1:p.Leu211Phe
NM_017460.5:c.633A>C NP_059488.2:p.Leu211Phe
XM_011515841.1:c.633A>C XP_011514143.1:p.Leu211Phe
XM_011515842.1:c.633A>C XP_011514144.1:p.Leu211Phe
NM_017460.6:c.633A>C MANE Select NP_059488.2:p.Leu211Phe
NM_001202855.3:c.633A>C NP_001189784.1:p.Leu211Phe