Canonical Allele Identifier: CA4350806

Gene: PON3

Linked Data

• ClinVar Variation Id: 488870
• ClinVar RCV Id: RCV000579077 ; RCV000766322 ; RCV001095523
• dbSNP Id: rs147006695
• ExAC: 7:95024007 G / A
• gnomAD v2: 7-95024007-G-A
• gnomAD v3: 7-95394695-G-A
• gnomAD v4: 7-95394695-G-A
• MyVariant Identifiers: chr7:g.95024007G>A (hg19) ; chr7:g.95394695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.95394695G>A , CM000669.2:g.95394695G>A	GRCh38
NC_000007.13:g.95024007G>A , CM000669.1:g.95024007G>A	GRCh37
NC_000007.12:g.94861943G>A	NCBI36
NG_008726.1:g.6681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265627.10:c.94C>T MANE Select	ENSP00000265627.5:p.Arg32Ter
ENST00000265627.9:c.94C>T	ENSP00000265627.5:p.Arg32Ter
ENST00000418617.5:c.116C>T	ENSP00000393174.1:p.Ser39Leu
ENST00000427422.5:c.94C>T	ENSP00000413276.1:p.Arg32Ter
ENST00000442770.5:c.116C>T	ENSP00000390253.1:p.Ser39Leu
ENST00000451904.5:c.94C>T	ENSP00000403850.1:p.Arg32Ter
ENST00000456855.5:c.94C>T	ENSP00000391072.1:p.Arg32Ter
ENST00000475439.1:n.282C>T
ENST00000482624.5:n.112C>T
NM_000940.2:c.94C>T	NP_000931.1:p.Arg32Ter
NM_000940.3:c.94C>T MANE Select	NP_000931.1:p.Arg32Ter