Canonical Allele Identifier: CA368370240

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1478486627
• gnomAD v2: 7-99364794-A-G
• gnomAD v3: 7-99767171-A-G
• gnomAD v4: 7-99767171-A-G
• MyVariant Identifiers: chr7:g.99364794A>G (hg19) ; chr7:g.99767171A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767171A>G , CM000669.2:g.99767171A>G	GRCh38
NC_000007.13:g.99364794A>G , CM000669.1:g.99364794A>G	GRCh37
NC_000007.12:g.99202730A>G	NCBI36
NG_008421.1:g.22015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.758T>C	ENSP00000337915.3:p.Val253Ala
ENST00000651162.1:n.193T>C
ENST00000651514.1:c.758T>C MANE Select	ENSP00000498939.1:p.Val253Ala
ENST00000651783.1:c.299T>C	ENSP00000498924.1:p.Val100Ala
ENST00000652018.1:c.611T>C	ENSP00000498733.1:p.Val204Ala
ENST00000336411.6:c.758T>C	ENSP00000337915.2:p.Val253Ala
ENST00000354593.6:c.308T>C	ENSP00000346607.2:p.Val103Ala
NM_001202855.2:c.755T>C	NP_001189784.1:p.Val252Ala
NM_017460.5:c.758T>C	NP_059488.2:p.Val253Ala
XM_011515841.1:c.758T>C	XP_011514143.1:p.Val253Ala
XM_011515842.1:c.755T>C	XP_011514144.1:p.Val252Ala
NM_017460.6:c.758T>C MANE Select	NP_059488.2:p.Val253Ala
NM_001202855.3:c.755T>C	NP_001189784.1:p.Val252Ala