Canonical Allele Identifier: CA1104657764
Gene: PON1 HGNC NCBI

Linked Data

dbSNP Id: rs1807894409
gnomAD v3: 7-95321418-A-G
gnomAD v4: 7-95321418-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95321418A>G , CM000669.2:g.95321418A>G GRCh38
NC_000007.13:g.94950730A>G , CM000669.1:g.94950730A>G GRCh37
NC_000007.12:g.94788666A>G NCBI36
NG_008779.1:g.8155T>C
NG_008779.2:g.8289T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222381.8:c.74+2984T>C MANE Select ENSP00000222381.3:n.74+2984T>C
ENST00000222381.7:c.74+2984T>C ENSP00000222381.3:n.74+2984T>C
ENST00000433729.1:c.74+2984T>C ENSP00000407359.1:n.74+2984T>C
NM_000446.5:c.74+2984T>C NP_000437.3:n.74+2984T>C
NM_000446.6:c.74+2984T>C NP_000437.3:n.74+2984T>C
NM_000446.7:c.74+2984T>C MANE Select NP_000437.3:n.74+2984T>C