Canonical Allele Identifier: CA860207704
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs193193853
gnomAD v3: 9-127800396-C-A
gnomAD v4: 9-127800396-C-A
MyVariant Identifiers: chr9:g.130562675C>A (hg19) chr9:g.127800396C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127800396C>A , CM000671.2:g.127800396C>A GRCh38
NC_000009.11:g.130562675C>A , CM000671.1:g.130562675C>A GRCh37
NC_000009.10:g.129602496C>A NCBI36
NG_023245.1:g.2522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000479147.6:n.217-3889C>A
ENST00000479375.6:n.132-3889C>A
Search 100 bp 5'
Search 100 bp 3'