Canonical Allele Identifier: CA4369548

Gene: CYP3A4

Linked Data

• dbSNP Id: rs776413992
• ExAC: 7:99359751 G / A
• gnomAD v2: 7-99359751-G-A
• gnomAD v4: 7-99762128-G-A
• MyVariant Identifiers: chr7:g.99359751G>A (hg19) ; chr7:g.99762128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99762128G>A , CM000669.2:g.99762128G>A	GRCh38
NC_000007.13:g.99359751G>A , CM000669.1:g.99359751G>A	GRCh37
NC_000007.12:g.99197687G>A	NCBI36
NG_008421.1:g.27058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1166C>T	ENSP00000337915.3:p.Pro389Leu
ENST00000651162.1:n.601C>T
ENST00000651514.1:c.1166C>T MANE Select	ENSP00000498939.1:p.Pro389Leu
ENST00000651783.1:c.707C>T	ENSP00000498924.1:p.Pro236Leu
ENST00000652018.1:c.1019C>T	ENSP00000498733.1:p.Pro340Leu
ENST00000336411.6:c.1166C>T	ENSP00000337915.2:p.Pro389Leu
ENST00000354593.6:c.716C>T	ENSP00000346607.2:p.Pro239Leu
NM_001202855.2:c.1163C>T	NP_001189784.1:p.Pro388Leu
NM_017460.5:c.1166C>T	NP_059488.2:p.Pro389Leu
XM_011515841.1:c.1166C>T	XP_011514143.1:p.Pro389Leu
XM_011515842.1:c.1163C>T	XP_011514144.1:p.Pro388Leu
NM_017460.6:c.1166C>T MANE Select	NP_059488.2:p.Pro389Leu
NM_001202855.3:c.1163C>T	NP_001189784.1:p.Pro388Leu