Canonical Allele Identifier: CA200280791
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs759174408
gnomAD v2: 9-130562738-C-T
gnomAD v3: 9-127800459-C-T
gnomAD v4: 9-127800459-C-T
MyVariant Identifiers: chr9:g.130562738C>T (hg19) chr9:g.127800459C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127800459C>T , CM000671.2:g.127800459C>T GRCh38
NC_000009.11:g.130562738C>T , CM000671.1:g.130562738C>T GRCh37
NC_000009.10:g.129602559C>T NCBI36
NG_023245.1:g.2585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479147.6:n.217-3826C>T
ENST00000479375.6:n.132-3826C>T
Search 100 bp 5'
Search 100 bp 3'