Canonical Allele Identifier: CA368367680

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1386756324
• gnomAD v2: 7-99358483-C-G
• gnomAD v3: 7-99760860-C-G
• gnomAD v4: 7-99760860-C-G
• MyVariant Identifiers: chr7:g.99358483C>G (hg19) ; chr7:g.99760860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760860C>G , CM000669.2:g.99760860C>G	GRCh38
NC_000007.13:g.99358483C>G , CM000669.1:g.99358483C>G	GRCh37
NC_000007.12:g.99196419C>G	NCBI36
NG_008421.1:g.28326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1468G>C	ENSP00000337915.3:p.Val490Leu
ENST00000651162.1:n.810G>C
ENST00000651514.1:c.1375G>C MANE Select	ENSP00000498939.1:p.Val459Leu
ENST00000651783.1:c.916G>C	ENSP00000498924.1:p.Val306Leu
ENST00000652018.1:c.1228G>C	ENSP00000498733.1:p.Val410Leu
ENST00000336411.6:c.1375G>C	ENSP00000337915.2:p.Val459Leu
ENST00000354593.6:c.925G>C	ENSP00000346607.2:p.Val309Leu
NM_001202855.2:c.1372G>C	NP_001189784.1:p.Val458Leu
NM_017460.5:c.1375G>C	NP_059488.2:p.Val459Leu
XM_011515841.1:c.1468G>C	XP_011514143.1:p.Val490Leu
XM_011515842.1:c.1465G>C	XP_011514144.1:p.Val489Leu
NM_017460.6:c.1375G>C MANE Select	NP_059488.2:p.Val459Leu
NM_001202855.3:c.1372G>C	NP_001189784.1:p.Val458Leu