Canonical Allele Identifier: CA844515130

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1239020936
• gnomAD v3: 7-99769265-CCT-C
• gnomAD v4: 7-99769265-CCT-C
• MyVariant Identifiers: chr7:g.99366889_99366890del (hg19) ; chr7:g.99769266_99769267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769272_99769273del , CM000669.2:g.99769272_99769273del	GRCh38
NC_000007.13:g.99366895_99366896del , CM000669.1:g.99366895_99366896del	GRCh37
NC_000007.12:g.99204831_99204832del	NCBI36
NG_008421.1:g.19919_19920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.521+501_521+502del	ENSP00000337915.3:n.521+501_521+502del
ENST00000651514.1:c.521+501_521+502del MANE Select	ENSP00000498939.1:n.521+501_521+502del
ENST00000651783.1:c.58-760_58-759del	ENSP00000498924.1:n.58-760_58-759del
ENST00000652018.1:c.374+501_374+502del	ENSP00000498733.1:n.374+501_374+502del
ENST00000336411.6:c.521+501_521+502del	ENSP00000337915.2:n.521+501_521+502del
ENST00000354593.6:c.72-765_72-764del	ENSP00000346607.2:n.72-765_72-764del
NM_001202855.2:c.521+501_521+502del	NP_001189784.1:n.521+501_521+502del
NM_017460.5:c.521+501_521+502del	NP_059488.2:n.521+501_521+502del
XM_011515841.1:c.521+501_521+502del	XP_011514143.1:n.521+501_521+502del
XM_011515842.1:c.521+501_521+502del	XP_011514144.1:n.521+501_521+502del
NM_017460.6:c.521+501_521+502del MANE Select	NP_059488.2:n.521+501_521+502del
NM_001202855.3:c.521+501_521+502del	NP_001189784.1:n.521+501_521+502del