Canonical Allele Identifier: CA4369497

Gene: CYP3A4

Linked Data

• dbSNP Id: rs750555967
• ExAC: 7:99358513 G / A
• gnomAD v2: 7-99358513-G-A
• gnomAD v4: 7-99760890-G-A
• MyVariant Identifiers: chr7:g.99358513G>A (hg19) ; chr7:g.99760890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99760890G>A , CM000669.2:g.99760890G>A	GRCh38
NC_000007.13:g.99358513G>A , CM000669.1:g.99358513G>A	GRCh37
NC_000007.12:g.99196449G>A	NCBI36
NG_008421.1:g.28296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1438C>T	ENSP00000337915.3:p.Leu480Phe
ENST00000651162.1:n.780C>T
ENST00000651514.1:c.1345C>T MANE Select	ENSP00000498939.1:p.Leu449Phe
ENST00000651783.1:c.886C>T	ENSP00000498924.1:p.Leu296Phe
ENST00000652018.1:c.1198C>T	ENSP00000498733.1:p.Leu400Phe
ENST00000336411.6:c.1345C>T	ENSP00000337915.2:p.Leu449Phe
ENST00000354593.6:c.895C>T	ENSP00000346607.2:p.Leu299Phe
NM_001202855.2:c.1342C>T	NP_001189784.1:p.Leu448Phe
NM_017460.5:c.1345C>T	NP_059488.2:p.Leu449Phe
XM_011515841.1:c.1438C>T	XP_011514143.1:p.Leu480Phe
XM_011515842.1:c.1435C>T	XP_011514144.1:p.Leu479Phe
NM_017460.6:c.1345C>T MANE Select	NP_059488.2:p.Leu449Phe
NM_001202855.3:c.1342C>T	NP_001189784.1:p.Leu448Phe