Canonical Allele Identifier: CA368368594
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1187705485
gnomAD v2: 7-99358523-C-G
gnomAD v4: 7-99760900-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760900C>G , CM000669.2:g.99760900C>G GRCh38
NC_000007.13:g.99358523C>G , CM000669.1:g.99358523C>G GRCh37
NC_000007.12:g.99196459C>G NCBI36
NG_008421.1:g.28286G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1428G>C ENSP00000337915.3:p.Met476Ile
ENST00000651162.1:n.770G>C
ENST00000651514.1:c.1335G>C MANE Select ENSP00000498939.1:p.Met445Ile
ENST00000651783.1:c.876G>C ENSP00000498924.1:p.Met292Ile
ENST00000652018.1:c.1188G>C ENSP00000498733.1:p.Met396Ile
ENST00000336411.6:c.1335G>C ENSP00000337915.2:p.Met445Ile
ENST00000354593.6:c.885G>C ENSP00000346607.2:p.Met295Ile
NM_001202855.2:c.1332G>C NP_001189784.1:p.Met444Ile
NM_017460.5:c.1335G>C NP_059488.2:p.Met445Ile
XM_011515841.1:c.1428G>C XP_011514143.1:p.Met476Ile
XM_011515842.1:c.1425G>C XP_011514144.1:p.Met475Ile
NM_017460.6:c.1335G>C MANE Select NP_059488.2:p.Met445Ile
NM_001202855.3:c.1332G>C NP_001189784.1:p.Met444Ile