Canonical Allele Identifier: CA368370253

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1371185080
• gnomAD v2: 7-99364800-T-G
• MyVariant Identifiers: chr7:g.99364800T>G (hg19) ; chr7:g.99767177T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767177T>G , CM000669.2:g.99767177T>G	GRCh38
NC_000007.13:g.99364800T>G , CM000669.1:g.99364800T>G	GRCh37
NC_000007.12:g.99202736T>G	NCBI36
NG_008421.1:g.22009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.752A>C	ENSP00000337915.3:p.Lys251Thr
ENST00000651162.1:n.187A>C
ENST00000651514.1:c.752A>C MANE Select	ENSP00000498939.1:p.Lys251Thr
ENST00000651783.1:c.293A>C	ENSP00000498924.1:p.Lys98Thr
ENST00000652018.1:c.605A>C	ENSP00000498733.1:p.Lys202Thr
ENST00000336411.6:c.752A>C	ENSP00000337915.2:p.Lys251Thr
ENST00000354593.6:c.302A>C	ENSP00000346607.2:p.Lys101Thr
NM_001202855.2:c.749A>C	NP_001189784.1:p.Lys250Thr
NM_017460.5:c.752A>C	NP_059488.2:p.Lys251Thr
XM_011515841.1:c.752A>C	XP_011514143.1:p.Lys251Thr
XM_011515842.1:c.749A>C	XP_011514144.1:p.Lys250Thr
NM_017460.6:c.752A>C MANE Select	NP_059488.2:p.Lys251Thr
NM_001202855.3:c.749A>C	NP_001189784.1:p.Lys250Thr