Canonical Allele Identifier: CA163153382

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1053900027
• gnomAD v2: 7-99366033-TC-T
• gnomAD v3: 7-99768410-TC-T
• gnomAD v4: 7-99768410-TC-T
• MyVariant Identifiers: chr7:g.99366034del (hg19) ; chr7:g.99768411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768412del , CM000669.2:g.99768412del	GRCh38
NC_000007.13:g.99366035del , CM000669.1:g.99366035del	GRCh37
NC_000007.12:g.99203971del	NCBI36
NG_008421.1:g.20775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.613del	ENSP00000337915.3:p.Glu205LysfsTer7
ENST00000651514.1:c.613del MANE Select	ENSP00000498939.1:p.Glu205LysfsTer7
ENST00000651783.1:c.154del	ENSP00000498924.1:p.Glu52LysfsTer7
ENST00000652018.1:c.466del	ENSP00000498733.1:p.Glu156LysfsTer7
ENST00000336411.6:c.613del	ENSP00000337915.2:p.Glu205LysfsTer7
ENST00000354593.6:c.163del	ENSP00000346607.2:p.Glu55LysfsTer7
NM_001202855.2:c.613del	NP_001189784.1:p.Glu205LysfsTer7
NM_017460.5:c.613del	NP_059488.2:p.Glu205LysfsTer7
XM_011515841.1:c.613del	XP_011514143.1:p.Glu205LysfsTer7
XM_011515842.1:c.613del	XP_011514144.1:p.Glu205LysfsTer7
NM_017460.6:c.613del MANE Select	NP_059488.2:p.Glu205LysfsTer7
NM_001202855.3:c.613del	NP_001189784.1:p.Glu205LysfsTer7