Canonical Allele Identifier: CA860207694

Gene: FPGS

Linked Data

• dbSNP Id: rs1481832925
• gnomAD v3: 9-127800342-G-C
• gnomAD v4: 9-127800342-G-C
• MyVariant Identifiers: chr9:g.130562621G>C (hg19) ; chr9:g.127800342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800342G>C , CM000671.2:g.127800342G>C	GRCh38
NC_000009.11:g.130562621G>C , CM000671.1:g.130562621G>C	GRCh37
NC_000009.10:g.129602442G>C	NCBI36
NG_023245.1:g.2468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3943G>C
ENST00000479375.6:n.132-3943G>C