Canonical Allele Identifier: CA163153090

Gene: CYP3A4

Linked Data

• dbSNP Id: rs945611939
• gnomAD v2: 7-99364830-AAC-A
• gnomAD v3: 7-99767207-AAC-A
• gnomAD v4: 7-99767207-AAC-A
• MyVariant Identifiers: chr7:g.99364831_99364832del (hg19) ; chr7:g.99767208_99767209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99767213_99767214del , CM000669.2:g.99767213_99767214del	GRCh38
NC_000007.13:g.99364836_99364837del , CM000669.1:g.99364836_99364837del	GRCh37
NC_000007.12:g.99202772_99202773del	NCBI36
NG_008421.1:g.21977_21978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.720_721del	ENSP00000337915.3:p.Phe241SerfsTer?
ENST00000651162.1:n.155_156del
ENST00000651514.1:c.720_721del MANE Select	ENSP00000498939.1:p.Phe241SerfsTer?
ENST00000651783.1:c.261_262del	ENSP00000498924.1:p.Phe88SerfsTer?
ENST00000652018.1:c.573_574del	ENSP00000498733.1:p.Phe192SerfsTer?
ENST00000336411.6:c.720_721del	ENSP00000337915.2:p.Phe241SerfsTer?
ENST00000354593.6:c.270_271del	ENSP00000346607.2:p.Phe91SerfsTer?
NM_001202855.2:c.717_718del	NP_001189784.1:p.Phe240SerfsTer?
NM_017460.5:c.720_721del	NP_059488.2:p.Phe241SerfsTer?
XM_011515841.1:c.720_721del	XP_011514143.1:p.Phe241SerfsTer?
XM_011515842.1:c.717_718del	XP_011514144.1:p.Phe240SerfsTer?
NM_017460.6:c.720_721del MANE Select	NP_059488.2:p.Phe241SerfsTer?
NM_001202855.3:c.717_718del	NP_001189784.1:p.Phe240SerfsTer?