Canonical Allele Identifier: CA368369201
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99762149-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99762149T>G , CM000669.2:g.99762149T>G GRCh38
NC_000007.13:g.99359772T>G , CM000669.1:g.99359772T>G GRCh37
NC_000007.12:g.99197708T>G NCBI36
NG_008421.1:g.27037A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1145A>C ENSP00000337915.3:p.Glu382Ala
ENST00000651162.1:n.580A>C
ENST00000651514.1:c.1145A>C MANE Select ENSP00000498939.1:p.Glu382Ala
ENST00000651783.1:c.686A>C ENSP00000498924.1:p.Glu229Ala
ENST00000652018.1:c.998A>C ENSP00000498733.1:p.Glu333Ala
ENST00000336411.6:c.1145A>C ENSP00000337915.2:p.Glu382Ala
ENST00000354593.6:c.695A>C ENSP00000346607.2:p.Glu232Ala
NM_001202855.2:c.1142A>C NP_001189784.1:p.Glu381Ala
NM_017460.5:c.1145A>C NP_059488.2:p.Glu382Ala
XM_011515841.1:c.1145A>C XP_011514143.1:p.Glu382Ala
XM_011515842.1:c.1142A>C XP_011514144.1:p.Glu381Ala
NM_017460.6:c.1145A>C MANE Select NP_059488.2:p.Glu382Ala
NM_001202855.3:c.1142A>C NP_001189784.1:p.Glu381Ala