Canonical Allele Identifier: CA4350437
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs771886998
ExAC: 7:94953730 G / T
gnomAD v2: 7-94953730-G-T
gnomAD v4: 7-95324418-G-T
MyVariant Identifiers: chr7:g.94953730G>T (hg19) chr7:g.95324418G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324418G>T , CM000669.2:g.95324418G>T GRCh38
NC_000007.13:g.94953730G>T , CM000669.1:g.94953730G>T GRCh37
NC_000007.12:g.94791666G>T NCBI36
NG_008779.1:g.5155C>A
NG_008779.2:g.5289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.58C>A MANE Select ENSP00000222381.3:p.His20Asn
ENST00000222381.7:c.58C>A ENSP00000222381.3:p.His20Asn
ENST00000433729.1:c.58C>A ENSP00000407359.1:p.His20Asn
NM_000446.5:c.58C>A NP_000437.3:p.His20Asn
NM_000446.6:c.58C>A NP_000437.3:p.His20Asn
NM_000446.7:c.58C>A MANE Select NP_000437.3:p.His20Asn
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