Canonical Allele Identifier: CA4369456

Gene: CYP3A4

Linked Data

• dbSNP Id: rs67666821
• ExAC: 7:99355806 GT / G
• gnomAD v2: 7-99355806-GT-G
• gnomAD v3: 7-99758183-GT-G
• gnomAD v4: 7-99758183-GT-G
• MyVariant Identifiers: chr7:g.99355807del (hg19) ; chr7:g.99758184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99758188del , CM000669.2:g.99758188del	GRCh38
NC_000007.13:g.99355811del , CM000669.1:g.99355811del	GRCh37
NC_000007.12:g.99193747del	NCBI36
NG_008421.1:g.31002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336411.7:c.1554del	ENSP00000337915.3:p.Lys518AsnfsTer5
ENST00000651162.1:n.896del
ENST00000651514.1:c.1461del MANE Select	ENSP00000498939.1:p.Lys487AsnfsTer5
ENST00000651783.1:c.1002del	ENSP00000498924.1:p.Lys334AsnfsTer5
ENST00000652018.1:c.1314del	ENSP00000498733.1:p.Lys438AsnfsTer5
ENST00000336411.6:c.1461del	ENSP00000337915.2:p.Lys487AsnfsTer5
ENST00000354593.6:c.1011del	ENSP00000346607.2:p.Lys337AsnfsTer5
NM_001202855.2:c.1458del	NP_001189784.1:p.Lys486AsnfsTer5
NM_017460.5:c.1461del	NP_059488.2:p.Lys487AsnfsTer5
XM_011515841.1:c.1554del	XP_011514143.1:p.Lys518AsnfsTer5
XM_011515842.1:c.1551del	XP_011514144.1:p.Lys517AsnfsTer5
NM_017460.6:c.1461del MANE Select	NP_059488.2:p.Lys487AsnfsTer5
NM_001202855.3:c.1458del	NP_001189784.1:p.Lys486AsnfsTer5