Canonical Allele Identifier: CA4369490

Gene: CYP3A4

Linked Data

• dbSNP Id: rs750735864
• ExAC: 7:99358498 G / GT
• gnomAD v2: 7-99358498-G-GT
• gnomAD v3: 7-99760875-G-GT
• gnomAD v4: 7-99760875-G-GT
• MyVariant Identifiers: chr7:g.99358498_99358499insT (hg19) ; chr7:g.99760875_99760876insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760878dup , CM000669.2:g.99760878dup	GRCh38
NC_000007.13:g.99358501dup , CM000669.1:g.99358501dup	GRCh37
NC_000007.12:g.99196437dup	NCBI36
NG_008421.1:g.28310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1452dup	ENSP00000337915.3:p.Leu485ThrfsTer16
ENST00000651162.1:n.794dup
ENST00000651514.1:c.1359dup MANE Select	ENSP00000498939.1:p.Leu454ThrfsTer16
ENST00000651783.1:c.900dup	ENSP00000498924.1:p.Leu301ThrfsTer16
ENST00000652018.1:c.1212dup	ENSP00000498733.1:p.Leu405ThrfsTer16
ENST00000336411.6:c.1359dup	ENSP00000337915.2:p.Leu454ThrfsTer16
ENST00000354593.6:c.909dup	ENSP00000346607.2:p.Leu304ThrfsTer16
NM_001202855.2:c.1356dup	NP_001189784.1:p.Leu453ThrfsTer16
NM_017460.5:c.1359dup	NP_059488.2:p.Leu454ThrfsTer16
XM_011515841.1:c.1452dup	XP_011514143.1:p.Leu485ThrfsTer16
XM_011515842.1:c.1449dup	XP_011514144.1:p.Leu484ThrfsTer16
NM_017460.6:c.1359dup MANE Select	NP_059488.2:p.Leu454ThrfsTer16
NM_001202855.3:c.1356dup	NP_001189784.1:p.Leu453ThrfsTer16