Canonical Allele Identifier: CA4350439
Gene: PON1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2657689
ClinVar RCV Id: RCV003433941
dbSNP Id: rs141948033
ExAC: 7:94953733 T / C
gnomAD v2: 7-94953733-T-C
gnomAD v3: 7-95324421-T-C
gnomAD v4: 7-95324421-T-C
MyVariant Identifiers: chr7:g.94953733T>C (hg19) chr7:g.95324421T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324421T>C , CM000669.2:g.95324421T>C GRCh38
NC_000007.13:g.94953733T>C , CM000669.1:g.94953733T>C GRCh37
NC_000007.12:g.94791669T>C NCBI36
NG_008779.1:g.5152A>G
NG_008779.2:g.5286A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.55A>G MANE Select ENSP00000222381.3:p.Asn19Asp
ENST00000222381.7:c.55A>G ENSP00000222381.3:p.Asn19Asp
ENST00000433729.1:c.55A>G ENSP00000407359.1:p.Asn19Asp
NM_000446.5:c.55A>G NP_000437.3:p.Asn19Asp
NM_000446.6:c.55A>G NP_000437.3:p.Asn19Asp
NM_000446.7:c.55A>G MANE Select NP_000437.3:p.Asn19Asp
Search 100 bp 5'
Search 100 bp 3'