Canonical Allele Identifier: CA860207641

Gene: FPGS

Linked Data

• dbSNP Id: rs1434346119
• gnomAD v3: 9-127800263-G-C
• gnomAD v4: 9-127800263-G-C
• MyVariant Identifiers: chr9:g.130562542G>C (hg19) ; chr9:g.127800263G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800263G>C , CM000671.2:g.127800263G>C	GRCh38
NC_000009.11:g.130562542G>C , CM000671.1:g.130562542G>C	GRCh37
NC_000009.10:g.129602363G>C	NCBI36
NG_023245.1:g.2389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-4022G>C
ENST00000479375.6:n.132-4022G>C