Canonical Allele Identifier: CA4369689

Gene: CYP3A4

Linked Data

• dbSNP Id: rs769451221
• ExAC: 7:99365999 C / A
• gnomAD v2: 7-99365999-C-A
• MyVariant Identifiers: chr7:g.99365999C>A (hg19) ; chr7:g.99768376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768376C>A , CM000669.2:g.99768376C>A	GRCh38
NC_000007.13:g.99365999C>A , CM000669.1:g.99365999C>A	GRCh37
NC_000007.12:g.99203935C>A	NCBI36
NG_008421.1:g.20810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.648G>T	ENSP00000337915.3:p.Leu216Phe
ENST00000651514.1:c.648G>T MANE Select	ENSP00000498939.1:p.Leu216Phe
ENST00000651783.1:c.189G>T	ENSP00000498924.1:p.Leu63Phe
ENST00000652018.1:c.501G>T	ENSP00000498733.1:p.Leu167Phe
ENST00000336411.6:c.648G>T	ENSP00000337915.2:p.Leu216Phe
ENST00000354593.6:c.198G>T	ENSP00000346607.2:p.Leu66Phe
NM_001202855.2:c.648G>T	NP_001189784.1:p.Leu216Phe
NM_017460.5:c.648G>T	NP_059488.2:p.Leu216Phe
XM_011515841.1:c.648G>T	XP_011514143.1:p.Leu216Phe
XM_011515842.1:c.648G>T	XP_011514144.1:p.Leu216Phe
NM_017460.6:c.648G>T MANE Select	NP_059488.2:p.Leu216Phe
NM_001202855.3:c.648G>T	NP_001189784.1:p.Leu216Phe