Canonical Allele Identifier: CA126391

Gene: FGG

Linked Data

• ClinVar Variation Id: 16362
• ClinVar RCV Id: RCV000017777 ; RCV000851952 ; RCV002225266 ; RCV003151729
• dbSNP Id: rs121913088
• ExAC: 4:155528084 C / T
• gnomAD v2: 4-155528084-C-T
• gnomAD v3: 4-154606932-C-T
• gnomAD v4: 4-154606932-C-T
• COSMIC: COSM242526
• MyVariant Identifiers: chr4:g.155528084C>T (hg19) ; chr4:g.154606932C>T (hg38)
• PubMed: PMID:1733971 ; PMID:2512677 ; PMID:2976995 ; PMID:3563970 ; PMID:6654188

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154606932C>T , CM000666.2:g.154606932C>T	GRCh38
NC_000004.11:g.155528084C>T , CM000666.1:g.155528084C>T	GRCh37
NC_000004.10:g.155747534C>T	NCBI36
NG_008834.1:g.10819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.902G>A MANE Select	ENSP00000336829.3:p.Arg301His
ENST00000336098.7:c.902G>A	ENSP00000336829.3:p.Arg301His
ENST00000404648.7:c.902G>A	ENSP00000384860.3:p.Arg301His
ENST00000405164.5:c.926G>A	ENSP00000384101.1:p.Arg309His
ENST00000407946.5:c.926G>A	ENSP00000384552.1:p.Arg309His
ENST00000465913.1:n.450G>A
ENST00000492082.5:n.1444G>A
NM_000509.4:c.902G>A	NP_000500.2:p.Arg301His
NM_000509.5:c.902G>A	NP_000500.2:p.Arg301His
NM_021870.2:c.902G>A	NP_068656.2:p.Arg301His
NM_021870.3:c.902G>A MANE Select	NP_068656.2:p.Arg301His
NM_000509.6:c.902G>A	NP_000500.2:p.Arg301His