Canonical Allele Identifier: CA163153389

Gene: CYP3A4

Linked Data

• dbSNP Id: rs763492754
• gnomAD v4: 7-99768423-C-CT
• MyVariant Identifiers: chr7:g.99366046_99366047insT (hg19) ; chr7:g.99768423_99768424insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768425dup , CM000669.2:g.99768425dup	GRCh38
NC_000007.13:g.99366048dup , CM000669.1:g.99366048dup	GRCh37
NC_000007.12:g.99203984dup	NCBI36
NG_008421.1:g.20762dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000336411.7:c.600dup	ENSP00000337915.3:p.Asp201ArgfsTer14
ENST00000651514.1:c.600dup MANE Select	ENSP00000498939.1:p.Asp201ArgfsTer14
ENST00000651783.1:c.141dup	ENSP00000498924.1:p.Asp48ArgfsTer14
ENST00000652018.1:c.453dup	ENSP00000498733.1:p.Asp152ArgfsTer14
ENST00000336411.6:c.600dup	ENSP00000337915.2:p.Asp201ArgfsTer14
ENST00000354593.6:c.150dup	ENSP00000346607.2:p.Asp51ArgfsTer14
NM_001202855.2:c.600dup	NP_001189784.1:p.Asp201ArgfsTer14
NM_017460.5:c.600dup	NP_059488.2:p.Asp201ArgfsTer14
XM_011515841.1:c.600dup	XP_011514143.1:p.Asp201ArgfsTer14
XM_011515842.1:c.600dup	XP_011514144.1:p.Asp201ArgfsTer14
NM_017460.6:c.600dup MANE Select	NP_059488.2:p.Asp201ArgfsTer14
NM_001202855.3:c.600dup	NP_001189784.1:p.Asp201ArgfsTer14