Canonical Allele Identifier: CA4369539
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs372231982
gnomAD v2: 7-99359709-C-G
gnomAD v4: 7-99762086-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99762086C>G , CM000669.2:g.99762086C>G GRCh38
NC_000007.13:g.99359709C>G , CM000669.1:g.99359709C>G GRCh37
NC_000007.12:g.99197645C>G NCBI36
NG_008421.1:g.27100G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1208G>C ENSP00000337915.3:p.Arg403Pro
ENST00000651162.1:n.643G>C
ENST00000651514.1:c.1208G>C MANE Select ENSP00000498939.1:p.Arg403Pro
ENST00000651783.1:c.749G>C ENSP00000498924.1:p.Arg250Pro
ENST00000652018.1:c.1061G>C ENSP00000498733.1:p.Arg354Pro
ENST00000336411.6:c.1208G>C ENSP00000337915.2:p.Arg403Pro
ENST00000354593.6:c.758G>C ENSP00000346607.2:p.Arg253Pro
NM_001202855.2:c.1205G>C NP_001189784.1:p.Arg402Pro
NM_017460.5:c.1208G>C NP_059488.2:p.Arg403Pro
XM_011515841.1:c.1208G>C XP_011514143.1:p.Arg403Pro
XM_011515842.1:c.1205G>C XP_011514144.1:p.Arg402Pro
NM_017460.6:c.1208G>C MANE Select NP_059488.2:p.Arg403Pro
NM_001202855.3:c.1205G>C NP_001189784.1:p.Arg402Pro