Canonical Allele Identifier: CA12568751
Gene: PON1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.95324637T>C
GRCh37 chr7:g.94953949T>C
gnomAD v2:
7:94953949 T / C
gnomAD v3:
7:95324637 T / C
gnomAD v4:
chr7-95324637-T-C
Joint Max Group AF 0.87422638 (EAS)
Genomes Max Group AF 0.84917395 (EAS)
Exomes Max Group AF 0.87551835 (EAS)
ClinVar Allele:
1258391
ClinVar RCV:
RCV001685810
ClinVar Variation:
1268484
dbSNP:
705381
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324637T>C , CM000669.2:g.95324637T>C GRCh38
NC_000007.13:g.94953949T>C , CM000669.1:g.94953949T>C GRCh37
NC_000007.12:g.94791885T>C NCBI36
NG_008779.1:g.4936A>G
NG_008779.2:g.5070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.7:c.-162A>G ENSP00000222381.3:n.-162A>G
NM_000446.6:c.-162A>G NP_000437.3:n.-162A>G
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