Canonical Allele Identifier: CA576710251

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1421686291
• gnomAD v2: 7-99359836-TCAC-T
• gnomAD v4: 7-99762213-TCAC-T
• MyVariant Identifiers: chr7:g.99359837_99359839del (hg19) ; chr7:g.99762214_99762216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99762219_99762221del , CM000669.2:g.99762219_99762221del	GRCh38
NC_000007.13:g.99359842_99359844del , CM000669.1:g.99359842_99359844del	GRCh37
NC_000007.12:g.99197778_99197780del	NCBI36
NG_008421.1:g.26970_26972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1078_1080del	ENSP00000337915.3:p.Val360del
ENST00000651162.1:n.513_515del
ENST00000651514.1:c.1078_1080del MANE Select	ENSP00000498939.1:p.Val360del
ENST00000651783.1:c.619_621del	ENSP00000498924.1:p.Val207del
ENST00000652018.1:c.931_933del	ENSP00000498733.1:p.Val311del
ENST00000336411.6:c.1078_1080del	ENSP00000337915.2:p.Val360del
ENST00000354593.6:c.628_630del	ENSP00000346607.2:p.Val210del
NM_001202855.2:c.1075_1077del	NP_001189784.1:p.Val359del
NM_017460.5:c.1078_1080del	NP_059488.2:p.Val360del
XM_011515841.1:c.1078_1080del	XP_011514143.1:p.Val360del
XM_011515842.1:c.1075_1077del	XP_011514144.1:p.Val359del
NM_017460.6:c.1078_1080del MANE Select	NP_059488.2:p.Val360del
NM_001202855.3:c.1075_1077del	NP_001189784.1:p.Val359del