Canonical Allele Identifier: CA200280601

Gene: FPGS

Linked Data

• dbSNP Id: rs4338213
• gnomAD v2: 9-130562636-C-T
• gnomAD v3: 9-127800357-C-T
• gnomAD v4: 9-127800357-C-T
• MyVariant Identifiers: chr9:g.130562636C>T (hg19) ; chr9:g.127800357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800357C>T , CM000671.2:g.127800357C>T	GRCh38
NC_000009.11:g.130562636C>T , CM000671.1:g.130562636C>T	GRCh37
NC_000009.10:g.129602457C>T	NCBI36
NG_023245.1:g.2483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3928C>T
ENST00000479375.6:n.132-3928C>T