Canonical Allele Identifier: CA12593406
Gene: PON1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.95298183G>A
GRCh37 chr7:g.94927495G>A
gnomAD v2:
7:94927495 G / A
gnomAD v3:
7:95298183 G / A
gnomAD v4:
chr7-95298183-G-A
Joint Max Group AF 0.28993214 (AFR)
Genomes Max Group AF 0.28993214 (AFR)
Exomes Max Group AF 0.02627505 (AMR)
dbSNP:
3735590
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95298183G>A , CM000669.2:g.95298183G>A GRCh38
NC_000007.13:g.94927495G>A , CM000669.1:g.94927495G>A GRCh37
NC_000007.12:g.94765431G>A NCBI36
NG_008779.1:g.31390C>T
NG_015803.1:g.395547G>A
NG_008779.2:g.31524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.*761C>T MANE Select ENSP00000222381.3:n.*761C>T
ENST00000222381.7:c.*761C>T ENSP00000222381.3:n.*761C>T
NM_000446.6:c.*761C>T NP_000437.3:n.*761C>T
NM_000446.7:c.*761C>T MANE Select NP_000437.3:n.*761C>T
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