Canonical Allele Identifier: CA368370998
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99768428-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768428G>A , CM000669.2:g.99768428G>A GRCh38
NC_000007.13:g.99366051G>A , CM000669.1:g.99366051G>A GRCh37
NC_000007.12:g.99203987G>A NCBI36
NG_008421.1:g.20758C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336411.7:c.596C>T ENSP00000337915.3:p.Pro199Leu
ENST00000651514.1:c.596C>T MANE Select ENSP00000498939.1:p.Pro199Leu
ENST00000651783.1:c.137C>T ENSP00000498924.1:p.Pro46Leu
ENST00000652018.1:c.449C>T ENSP00000498733.1:p.Pro150Leu
ENST00000336411.6:c.596C>T ENSP00000337915.2:p.Pro199Leu
ENST00000354593.6:c.146C>T ENSP00000346607.2:p.Pro49Leu
NM_001202855.2:c.596C>T NP_001189784.1:p.Pro199Leu
NM_017460.5:c.596C>T NP_059488.2:p.Pro199Leu
XM_011515841.1:c.596C>T XP_011514143.1:p.Pro199Leu
XM_011515842.1:c.596C>T XP_011514144.1:p.Pro199Leu
NM_017460.6:c.596C>T MANE Select NP_059488.2:p.Pro199Leu
NM_001202855.3:c.596C>T NP_001189784.1:p.Pro199Leu