Canonical Allele Identifier: CA368368651
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1393894592
gnomAD v2: 7-99358548-C-G
gnomAD v3: 7-99760925-C-G
gnomAD v4: 7-99760925-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760925C>G , CM000669.2:g.99760925C>G GRCh38
NC_000007.13:g.99358548C>G , CM000669.1:g.99358548C>G GRCh37
NC_000007.12:g.99196484C>G NCBI36
NG_008421.1:g.28261G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1403G>C ENSP00000337915.3:p.Ser468Thr
ENST00000651162.1:n.745G>C
ENST00000651514.1:c.1310G>C MANE Select ENSP00000498939.1:p.Ser437Thr
ENST00000651783.1:c.851G>C ENSP00000498924.1:p.Ser284Thr
ENST00000652018.1:c.1163G>C ENSP00000498733.1:p.Ser388Thr
ENST00000336411.6:c.1310G>C ENSP00000337915.2:p.Ser437Thr
ENST00000354593.6:c.860G>C ENSP00000346607.2:p.Ser287Thr
NM_001202855.2:c.1307G>C NP_001189784.1:p.Ser436Thr
NM_017460.5:c.1310G>C NP_059488.2:p.Ser437Thr
XM_011515841.1:c.1403G>C XP_011514143.1:p.Ser468Thr
XM_011515842.1:c.1400G>C XP_011514144.1:p.Ser467Thr
NM_017460.6:c.1310G>C MANE Select NP_059488.2:p.Ser437Thr
NM_001202855.3:c.1307G>C NP_001189784.1:p.Ser436Thr