Canonical Allele Identifier: CA4350424
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs374658672
gnomAD v2: 7-94953671-T-G
gnomAD v3: 7-95324359-T-G
gnomAD v4: 7-95324359-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95324359T>G , CM000669.2:g.95324359T>G GRCh38
NC_000007.13:g.94953671T>G , CM000669.1:g.94953671T>G GRCh37
NC_000007.12:g.94791607T>G NCBI36
NG_008779.1:g.5214A>C
NG_008779.2:g.5348A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222381.8:c.74+43A>C MANE Select ENSP00000222381.3:n.74+43A>C
ENST00000222381.7:c.74+43A>C ENSP00000222381.3:n.74+43A>C
ENST00000433729.1:c.74+43A>C ENSP00000407359.1:n.74+43A>C
NM_000446.5:c.74+43A>C NP_000437.3:n.74+43A>C
NM_000446.6:c.74+43A>C NP_000437.3:n.74+43A>C
NM_000446.7:c.74+43A>C MANE Select NP_000437.3:n.74+43A>C