Canonical Allele Identifier: CA368368957

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1481942841
• gnomAD v2: 7-99359727-G-A
• gnomAD v4: 7-99762104-G-A
• COSMIC: COSM5596559
• MyVariant Identifiers: chr7:g.99359727G>A (hg19) ; chr7:g.99762104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99762104G>A , CM000669.2:g.99762104G>A	GRCh38
NC_000007.13:g.99359727G>A , CM000669.1:g.99359727G>A	GRCh37
NC_000007.12:g.99197663G>A	NCBI36
NG_008421.1:g.27082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.1190C>T	ENSP00000337915.3:p.Pro397Leu
ENST00000651162.1:n.625C>T
ENST00000651514.1:c.1190C>T MANE Select	ENSP00000498939.1:p.Pro397Leu
ENST00000651783.1:c.731C>T	ENSP00000498924.1:p.Pro244Leu
ENST00000652018.1:c.1043C>T	ENSP00000498733.1:p.Pro348Leu
ENST00000336411.6:c.1190C>T	ENSP00000337915.2:p.Pro397Leu
ENST00000354593.6:c.740C>T	ENSP00000346607.2:p.Pro247Leu
NM_001202855.2:c.1187C>T	NP_001189784.1:p.Pro396Leu
NM_017460.5:c.1190C>T	NP_059488.2:p.Pro397Leu
XM_011515841.1:c.1190C>T	XP_011514143.1:p.Pro397Leu
XM_011515842.1:c.1187C>T	XP_011514144.1:p.Pro396Leu
NM_017460.6:c.1190C>T MANE Select	NP_059488.2:p.Pro397Leu
NM_001202855.3:c.1187C>T	NP_001189784.1:p.Pro396Leu