Canonical Allele Identifier: CA4350639
Gene: PON3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418423
ClinVar RCV Id: RCV000483277 RCV000766622
dbSNP Id: rs201544566
ExAC: 7:94993374 C / T
gnomAD v2: 7-94993374-C-T
gnomAD v3: 7-95364062-C-T
gnomAD v4: 7-95364062-C-T
MyVariant Identifiers: chr7:g.94993374C>T (hg19) chr7:g.95364062C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95364062C>T , CM000669.2:g.95364062C>T GRCh38
NC_000007.13:g.94993374C>T , CM000669.1:g.94993374C>T GRCh37
NC_000007.12:g.94831310C>T NCBI36
NG_008726.1:g.37314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265627.10:c.496G>A MANE Select ENSP00000265627.5:p.Val166Met
ENST00000265627.9:c.496G>A ENSP00000265627.5:p.Val166Met
ENST00000418617.5:c.*250G>A ENSP00000393174.1:n.*250G>A
ENST00000427422.5:c.496G>A ENSP00000413276.1:p.Val166Met
ENST00000442770.5:c.*377G>A ENSP00000390253.1:n.*377G>A
ENST00000451904.5:c.496G>A ENSP00000403850.1:p.Val166Met
ENST00000456855.5:c.*254G>A ENSP00000391072.1:n.*254G>A
ENST00000482624.5:n.658G>A
ENST00000492800.1:n.1852G>A
NM_000940.2:c.496G>A NP_000931.1:p.Val166Met
NM_000940.3:c.496G>A MANE Select NP_000931.1:p.Val166Met
Search 100 bp 5'
Search 100 bp 3'