Canonical Allele Identifier: CA576400468

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1475210798
• gnomAD v2: 7-99358589-GTTC-G
• gnomAD v4: 7-99760966-GTTC-G
• COSMIC: COSM453676
• MyVariant Identifiers: chr7:g.99358590_99358592del (hg19) ; chr7:g.99760967_99760969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760972_99760974del , CM000669.2:g.99760972_99760974del	GRCh38
NC_000007.13:g.99358595_99358597del , CM000669.1:g.99358595_99358597del	GRCh37
NC_000007.12:g.99196531_99196533del	NCBI36
NG_008421.1:g.28217_28219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1359_1361del	ENSP00000337915.3:p.Lys453del
ENST00000651162.1:n.701_703del
ENST00000651514.1:c.1266_1268del MANE Select	ENSP00000498939.1:p.Lys422del
ENST00000651783.1:c.807_809del	ENSP00000498924.1:p.Lys269del
ENST00000652018.1:c.1119_1121del	ENSP00000498733.1:p.Lys373del
ENST00000336411.6:c.1266_1268del	ENSP00000337915.2:p.Lys422del
ENST00000354593.6:c.816_818del	ENSP00000346607.2:p.Lys272del
NM_001202855.2:c.1263_1265del	NP_001189784.1:p.Lys421del
NM_017460.5:c.1266_1268del	NP_059488.2:p.Lys422del
XM_011515841.1:c.1359_1361del	XP_011514143.1:p.Lys453del
XM_011515842.1:c.1356_1358del	XP_011514144.1:p.Lys452del
NM_017460.6:c.1266_1268del MANE Select	NP_059488.2:p.Lys422del
NM_001202855.3:c.1263_1265del	NP_001189784.1:p.Lys421del