Canonical Allele Identifier: CA4369482

Gene: CYP3A4

Linked Data

• dbSNP Id: rs767927619
• ExAC: 7:99358464 AAGG / A
• gnomAD v2: 7-99358464-AAGG-A
• gnomAD v3: 7-99760841-AAGG-A
• gnomAD v4: 7-99760841-AAGG-A
• MyVariant Identifiers: chr7:g.99358465_99358467del (hg19) ; chr7:g.99760843_99760845del (hg38) ; chr7:g.99760842_99760844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760844_99760846del , CM000669.2:g.99760844_99760846del	GRCh38
NC_000007.13:g.99358467_99358469del , CM000669.1:g.99358467_99358469del	GRCh37
NC_000007.12:g.99196403_99196405del	NCBI36
NG_008421.1:g.28342_28344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1484_1486del	ENSP00000337915.3:p.Ser495del
ENST00000651162.1:n.826_828del
ENST00000651514.1:c.1391_1393del MANE Select	ENSP00000498939.1:p.Ser464del
ENST00000651783.1:c.932_934del	ENSP00000498924.1:p.Ser311del
ENST00000652018.1:c.1244_1246del	ENSP00000498733.1:p.Ser415del
ENST00000336411.6:c.1391_1393del	ENSP00000337915.2:p.Ser464del
ENST00000354593.6:c.941_943del	ENSP00000346607.2:p.Ser314del
NM_001202855.2:c.1388_1390del	NP_001189784.1:p.Ser463del
NM_017460.5:c.1391_1393del	NP_059488.2:p.Ser464del
XM_011515841.1:c.1484_1486del	XP_011514143.1:p.Ser495del
XM_011515842.1:c.1481_1483del	XP_011514144.1:p.Ser494del
NM_017460.6:c.1391_1393del MANE Select	NP_059488.2:p.Ser464del
NM_001202855.3:c.1388_1390del	NP_001189784.1:p.Ser463del