Canonical Allele Identifier: CA368373184
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1416086132
gnomAD v2: 7-99367479-T-C
gnomAD v3: 7-99769856-T-C
gnomAD v4: 7-99769856-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99769856T>C , CM000669.2:g.99769856T>C GRCh38
NC_000007.13:g.99367479T>C , CM000669.1:g.99367479T>C GRCh37
NC_000007.12:g.99205415T>C NCBI36
NG_008421.1:g.19330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.433A>G ENSP00000337915.3:p.Met145Val
ENST00000651514.1:c.433A>G MANE Select ENSP00000498939.1:p.Met145Val
ENST00000651783.1:c.58-1349A>G ENSP00000498924.1:n.58-1349A>G
ENST00000652018.1:c.286A>G ENSP00000498733.1:p.Met96Val
ENST00000336411.6:c.433A>G ENSP00000337915.2:p.Met145Val
ENST00000354593.6:c.72-1354A>G ENSP00000346607.2:n.72-1354A>G
ENST00000480043.1:n.330A>G
NM_001202855.2:c.433A>G NP_001189784.1:p.Met145Val
NM_017460.5:c.433A>G NP_059488.2:p.Met145Val
XM_011515841.1:c.433A>G XP_011514143.1:p.Met145Val
XM_011515842.1:c.433A>G XP_011514144.1:p.Met145Val
NM_017460.6:c.433A>G MANE Select NP_059488.2:p.Met145Val
NM_001202855.3:c.433A>G NP_001189784.1:p.Met145Val