Canonical Allele Identifier: CA576402055

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1173767427
• gnomAD v2: 7-99367342-TGGA-T
• gnomAD v4: 7-99769719-TGGA-T
• MyVariant Identifiers: chr7:g.99367343_99367345del (hg19) ; chr7:g.99769720_99769722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769722_99769724del , CM000669.2:g.99769722_99769724del	GRCh38
NC_000007.13:g.99367345_99367347del , CM000669.1:g.99367345_99367347del	GRCh37
NC_000007.12:g.99205281_99205283del	NCBI36
NG_008421.1:g.19464_19466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.521+46_521+48del	ENSP00000337915.3:n.521+46_521+48del
ENST00000651514.1:c.521+46_521+48del MANE Select	ENSP00000498939.1:n.521+46_521+48del
ENST00000651783.1:c.58-1215_58-1213del	ENSP00000498924.1:n.58-1215_58-1213del
ENST00000652018.1:c.374+46_374+48del	ENSP00000498733.1:n.374+46_374+48del
ENST00000336411.6:c.521+46_521+48del	ENSP00000337915.2:n.521+46_521+48del
ENST00000354593.6:c.72-1220_72-1218del	ENSP00000346607.2:n.72-1220_72-1218del
ENST00000480043.1:n.464_466del
NM_001202855.2:c.521+46_521+48del	NP_001189784.1:n.521+46_521+48del
NM_017460.5:c.521+46_521+48del	NP_059488.2:n.521+46_521+48del
XM_011515841.1:c.521+46_521+48del	XP_011514143.1:n.521+46_521+48del
XM_011515842.1:c.521+46_521+48del	XP_011514144.1:n.521+46_521+48del
NM_017460.6:c.521+46_521+48del MANE Select	NP_059488.2:n.521+46_521+48del
NM_001202855.3:c.521+46_521+48del	NP_001189784.1:n.521+46_521+48del