Canonical Allele Identifier: CA4369492

Gene: CYP3A4

Linked Data

• dbSNP Id: rs759214314
• ExAC: 7:99358503 A / G
• gnomAD v2: 7-99358503-A-G
• gnomAD v3: 7-99760880-A-G
• gnomAD v4: 7-99760880-A-G
• MyVariant Identifiers: chr7:g.99358503A>G (hg19) ; chr7:g.99760880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760880A>G , CM000669.2:g.99760880A>G	GRCh38
NC_000007.13:g.99358503A>G , CM000669.1:g.99358503A>G	GRCh37
NC_000007.12:g.99196439A>G	NCBI36
NG_008421.1:g.28306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1448T>C	ENSP00000337915.3:p.Met483Thr
ENST00000651162.1:n.790T>C
ENST00000651514.1:c.1355T>C MANE Select	ENSP00000498939.1:p.Met452Thr
ENST00000651783.1:c.896T>C	ENSP00000498924.1:p.Met299Thr
ENST00000652018.1:c.1208T>C	ENSP00000498733.1:p.Met403Thr
ENST00000336411.6:c.1355T>C	ENSP00000337915.2:p.Met452Thr
ENST00000354593.6:c.905T>C	ENSP00000346607.2:p.Met302Thr
NM_001202855.2:c.1352T>C	NP_001189784.1:p.Met451Thr
NM_017460.5:c.1355T>C	NP_059488.2:p.Met452Thr
XM_011515841.1:c.1448T>C	XP_011514143.1:p.Met483Thr
XM_011515842.1:c.1445T>C	XP_011514144.1:p.Met482Thr
NM_017460.6:c.1355T>C MANE Select	NP_059488.2:p.Met452Thr
NM_001202855.3:c.1352T>C	NP_001189784.1:p.Met451Thr