Canonical Allele Identifier: CA200280806

Gene: FPGS

Linked Data

• dbSNP Id: rs181251375
• gnomAD v2: 9-130562807-G-A
• gnomAD v3: 9-127800528-G-A
• gnomAD v4: 9-127800528-G-A
• MyVariant Identifiers: chr9:g.130562807G>A (hg19) ; chr9:g.127800528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800528G>A , CM000671.2:g.127800528G>A	GRCh38
NC_000009.11:g.130562807G>A , CM000671.1:g.130562807G>A	GRCh37
NC_000009.10:g.129602628G>A	NCBI36
NG_023245.1:g.2654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3757G>A
ENST00000479375.6:n.132-3757G>A