Canonical Allele Identifier: CA860207652
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1431841873
gnomAD v3: 9-127800283-T-C
gnomAD v4: 9-127800283-T-C
MyVariant Identifiers: chr9:g.130562562T>C (hg19) chr9:g.127800283T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127800283T>C , CM000671.2:g.127800283T>C GRCh38
NC_000009.11:g.130562562T>C , CM000671.1:g.130562562T>C GRCh37
NC_000009.10:g.129602383T>C NCBI36
NG_023245.1:g.2409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479147.6:n.217-4002T>C
ENST00000479375.6:n.132-4002T>C
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