Canonical Allele Identifier: CA4369778

Gene: CYP3A4

Linked Data

• dbSNP Id: rs776078249
• ExAC: 7:99367761 C / G
• gnomAD v2: 7-99367761-C-G
• gnomAD v3: 7-99770138-C-G
• gnomAD v4: 7-99770138-C-G
• MyVariant Identifiers: chr7:g.99367761C>G (hg19) ; chr7:g.99770138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99770138C>G , CM000669.2:g.99770138C>G	GRCh38
NC_000007.13:g.99367761C>G , CM000669.1:g.99367761C>G	GRCh37
NC_000007.12:g.99205697C>G	NCBI36
NG_008421.1:g.19048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.416G>C	ENSP00000337915.3:p.Ser139Thr
ENST00000651514.1:c.416G>C MANE Select	ENSP00000498939.1:p.Ser139Thr
ENST00000651783.1:c.58-1631G>C	ENSP00000498924.1:n.58-1631G>C
ENST00000652018.1:c.269G>C	ENSP00000498733.1:p.Ser90Thr
ENST00000336411.6:c.416G>C	ENSP00000337915.2:p.Ser139Thr
ENST00000354593.6:c.72-1636G>C	ENSP00000346607.2:n.72-1636G>C
ENST00000415003.1:c.455G>C	ENSP00000397208.1:p.Ser152Thr
ENST00000480043.1:n.313G>C
NM_001202855.2:c.416G>C	NP_001189784.1:p.Ser139Thr
NM_017460.5:c.416G>C	NP_059488.2:p.Ser139Thr
XM_011515841.1:c.416G>C	XP_011514143.1:p.Ser139Thr
XM_011515842.1:c.416G>C	XP_011514144.1:p.Ser139Thr
NM_017460.6:c.416G>C MANE Select	NP_059488.2:p.Ser139Thr
NM_001202855.3:c.416G>C	NP_001189784.1:p.Ser139Thr