Canonical Allele Identifier: CA4369654

Gene: CYP3A4

Linked Data

• dbSNP Id: rs777836175
• ExAC: 7:99364824 C / G
• gnomAD v4: 7-99767201-C-G
• MyVariant Identifiers: chr7:g.99364824C>G (hg19) ; chr7:g.99767201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767201C>G , CM000669.2:g.99767201C>G	GRCh38
NC_000007.13:g.99364824C>G , CM000669.1:g.99364824C>G	GRCh37
NC_000007.12:g.99202760C>G	NCBI36
NG_008421.1:g.21985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.728G>C	ENSP00000337915.3:p.Arg243Thr
ENST00000651162.1:n.163G>C
ENST00000651514.1:c.728G>C MANE Select	ENSP00000498939.1:p.Arg243Thr
ENST00000651783.1:c.269G>C	ENSP00000498924.1:p.Arg90Thr
ENST00000652018.1:c.581G>C	ENSP00000498733.1:p.Arg194Thr
ENST00000336411.6:c.728G>C	ENSP00000337915.2:p.Arg243Thr
ENST00000354593.6:c.278G>C	ENSP00000346607.2:p.Arg93Thr
NM_001202855.2:c.725G>C	NP_001189784.1:p.Arg242Thr
NM_017460.5:c.728G>C	NP_059488.2:p.Arg243Thr
XM_011515841.1:c.728G>C	XP_011514143.1:p.Arg243Thr
XM_011515842.1:c.725G>C	XP_011514144.1:p.Arg242Thr
NM_017460.6:c.728G>C MANE Select	NP_059488.2:p.Arg243Thr
NM_001202855.3:c.725G>C	NP_001189784.1:p.Arg242Thr