Canonical Allele Identifier: CA162899944
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1009794708
gnomAD v2: 7-94937270-G-T
gnomAD v3: 7-95307958-G-T
gnomAD v4: 7-95307958-G-T
MyVariant Identifiers: chr7:g.94937270G>T (hg19) chr7:g.95307958G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95307958G>T , CM000669.2:g.95307958G>T GRCh38
NC_000007.13:g.94937270G>T , CM000669.1:g.94937270G>T GRCh37
NC_000007.12:g.94775206G>T NCBI36
NG_008779.1:g.21615C>A
NG_008779.2:g.21749C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.698+53C>A MANE Select ENSP00000222381.3:n.698+53C>A
ENST00000222381.7:c.698+53C>A ENSP00000222381.3:n.698+53C>A
ENST00000433729.1:c.*423+53C>A ENSP00000407359.1:n.*423+53C>A
NM_000446.5:c.698+53C>A NP_000437.3:n.698+53C>A
NM_000446.6:c.698+53C>A NP_000437.3:n.698+53C>A
NM_000446.7:c.698+53C>A MANE Select NP_000437.3:n.698+53C>A
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