Canonical Allele Identifier: CA4350367
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs370074771
gnomAD v2: 7-94946010-G-A
gnomAD v3: 7-95316698-G-A
gnomAD v4: 7-95316698-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95316698G>A , CM000669.2:g.95316698G>A GRCh38
NC_000007.13:g.94946010G>A , CM000669.1:g.94946010G>A GRCh37
NC_000007.12:g.94783946G>A NCBI36
NG_008779.1:g.12875C>T
NG_008779.2:g.13009C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.201+36C>T MANE Select ENSP00000222381.3:n.201+36C>T
ENST00000222381.7:c.201+36C>T ENSP00000222381.3:n.201+36C>T
ENST00000433729.1:c.201+36C>T ENSP00000407359.1:n.201+36C>T
ENST00000470502.1:n.321+36C>T
NM_000446.5:c.201+36C>T NP_000437.3:n.201+36C>T
NM_000446.6:c.201+36C>T NP_000437.3:n.201+36C>T
NM_000446.7:c.201+36C>T MANE Select NP_000437.3:n.201+36C>T