Canonical Allele Identifier: CA368370809
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1214652492
gnomAD v2: 7-99366018-A-G
gnomAD v4: 7-99768395-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768395A>G , CM000669.2:g.99768395A>G GRCh38
NC_000007.13:g.99366018A>G , CM000669.1:g.99366018A>G GRCh37
NC_000007.12:g.99203954A>G NCBI36
NG_008421.1:g.20791T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.629T>C ENSP00000337915.3:p.Leu210Pro
ENST00000651514.1:c.629T>C MANE Select ENSP00000498939.1:p.Leu210Pro
ENST00000651783.1:c.170T>C ENSP00000498924.1:p.Leu57Pro
ENST00000652018.1:c.482T>C ENSP00000498733.1:p.Leu161Pro
ENST00000336411.6:c.629T>C ENSP00000337915.2:p.Leu210Pro
ENST00000354593.6:c.179T>C ENSP00000346607.2:p.Leu60Pro
NM_001202855.2:c.629T>C NP_001189784.1:p.Leu210Pro
NM_017460.5:c.629T>C NP_059488.2:p.Leu210Pro
XM_011515841.1:c.629T>C XP_011514143.1:p.Leu210Pro
XM_011515842.1:c.629T>C XP_011514144.1:p.Leu210Pro
NM_017460.6:c.629T>C MANE Select NP_059488.2:p.Leu210Pro
NM_001202855.3:c.629T>C NP_001189784.1:p.Leu210Pro