Canonical Allele Identifier: CA590597108

Gene: FPGS

Linked Data

• dbSNP Id: rs1254043146
• gnomAD v2: 9-130562745-A-C
• gnomAD v3: 9-127800466-A-C
• gnomAD v4: 9-127800466-A-C
• MyVariant Identifiers: chr9:g.130562745A>C (hg19) ; chr9:g.127800466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800466A>C , CM000671.2:g.127800466A>C	GRCh38
NC_000009.11:g.130562745A>C , CM000671.1:g.130562745A>C	GRCh37
NC_000009.10:g.129602566A>C	NCBI36
NG_023245.1:g.2592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3819A>C
ENST00000479375.6:n.132-3819A>C