Canonical Allele Identifier: CA1104651909
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1807574581
gnomAD v3: 7-95307942-A-C
gnomAD v4: 7-95307942-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95307942A>C , CM000669.2:g.95307942A>C GRCh38
NC_000007.13:g.94937254A>C , CM000669.1:g.94937254A>C GRCh37
NC_000007.12:g.94775190A>C NCBI36
NG_008779.1:g.21631T>G
NG_008779.2:g.21765T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.698+69T>G MANE Select ENSP00000222381.3:n.698+69T>G
ENST00000222381.7:c.698+69T>G ENSP00000222381.3:n.698+69T>G
ENST00000433729.1:c.*423+69T>G ENSP00000407359.1:n.*423+69T>G
NM_000446.5:c.698+69T>G NP_000437.3:n.698+69T>G
NM_000446.6:c.698+69T>G NP_000437.3:n.698+69T>G
NM_000446.7:c.698+69T>G MANE Select NP_000437.3:n.698+69T>G