Canonical Allele Identifier: CA4350440
Gene: PON1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2264451
ClinVar RCV Id: RCV004122454
dbSNP Id: rs201783178
ExAC: 7:94953736 T / C
gnomAD v2: 7-94953736-T-C
gnomAD v3: 7-95324424-T-C
gnomAD v4: 7-95324424-T-C
MyVariant Identifiers: chr7:g.94953736T>C (hg19) chr7:g.95324424T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324424T>C , CM000669.2:g.95324424T>C GRCh38
NC_000007.13:g.94953736T>C , CM000669.1:g.94953736T>C GRCh37
NC_000007.12:g.94791672T>C NCBI36
NG_008779.1:g.5149A>G
NG_008779.2:g.5283A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.52A>G MANE Select ENSP00000222381.3:p.Arg18Gly
ENST00000222381.7:c.52A>G ENSP00000222381.3:p.Arg18Gly
ENST00000433729.1:c.52A>G ENSP00000407359.1:p.Arg18Gly
NM_000446.5:c.52A>G NP_000437.3:p.Arg18Gly
NM_000446.6:c.52A>G NP_000437.3:p.Arg18Gly
NM_000446.7:c.52A>G MANE Select NP_000437.3:p.Arg18Gly
Search 100 bp 5'
Search 100 bp 3'