Canonical Allele Identifier: CA200280739

Gene: FPGS

Linked Data

• dbSNP Id: rs796737605
• gnomAD v3: 9-127800452-C-T
• gnomAD v4: 9-127800452-C-T
• MyVariant Identifiers: chr9:g.130562731C>T (hg19) ; chr9:g.127800452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800452C>T , CM000671.2:g.127800452C>T	GRCh38
NC_000009.11:g.130562731C>T , CM000671.1:g.130562731C>T	GRCh37
NC_000009.10:g.129602552C>T	NCBI36
NG_023245.1:g.2578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3833C>T
ENST00000479375.6:n.132-3833C>T