Canonical Allele Identifier: CA368368551
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs767370767
gnomAD v2: 7-99358504-T-C
gnomAD v4: 7-99760881-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760881T>C , CM000669.2:g.99760881T>C GRCh38
NC_000007.13:g.99358504T>C , CM000669.1:g.99358504T>C GRCh37
NC_000007.12:g.99196440T>C NCBI36
NG_008421.1:g.28305A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1447A>G ENSP00000337915.3:p.Met483Val
ENST00000651162.1:n.789A>G
ENST00000651514.1:c.1354A>G MANE Select ENSP00000498939.1:p.Met452Val
ENST00000651783.1:c.895A>G ENSP00000498924.1:p.Met299Val
ENST00000652018.1:c.1207A>G ENSP00000498733.1:p.Met403Val
ENST00000336411.6:c.1354A>G ENSP00000337915.2:p.Met452Val
ENST00000354593.6:c.904A>G ENSP00000346607.2:p.Met302Val
NM_001202855.2:c.1351A>G NP_001189784.1:p.Met451Val
NM_017460.5:c.1354A>G NP_059488.2:p.Met452Val
XM_011515841.1:c.1447A>G XP_011514143.1:p.Met483Val
XM_011515842.1:c.1444A>G XP_011514144.1:p.Met482Val
NM_017460.6:c.1354A>G MANE Select NP_059488.2:p.Met452Val
NM_001202855.3:c.1351A>G NP_001189784.1:p.Met451Val