Canonical Allele Identifier: CA126421

Gene: FGG

Linked Data

• ClinVar Variation Id: 16378
• ClinVar RCV Id: RCV000017800 ; RCV000791084 ; RCV000851827 ; RCV000963143 ; RCV001144043 ; RCV002222000
• dbSNP Id: rs6063
• ExAC: 4:155530877 C / T
• gnomAD v2: 4-155530877-C-T
• gnomAD v3: 4-154609725-C-T
• gnomAD v4: 4-154609725-C-T
• MyVariant Identifiers: chr4:g.155530877C>T (hg19) ; chr4:g.154609725C>T (hg38)
• PubMed: PMID:11435303

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154609725C>T , CM000666.2:g.154609725C>T	GRCh38
NC_000004.11:g.155530877C>T , CM000666.1:g.155530877C>T	GRCh37
NC_000004.10:g.155750327C>T	NCBI36
NG_008834.1:g.8026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.571G>A MANE Select	ENSP00000336829.3:p.Gly191Arg
ENST00000336098.7:c.571G>A	ENSP00000336829.3:p.Gly191Arg
ENST00000393846.6:c.262G>A	ENSP00000377429.2:p.Gly88Arg
ENST00000404648.7:c.571G>A	ENSP00000384860.3:p.Gly191Arg
ENST00000405164.5:c.595G>A	ENSP00000384101.1:p.Gly199Arg
ENST00000407946.5:c.595G>A	ENSP00000384552.1:p.Gly199Arg
ENST00000443553.5:c.262G>A	ENSP00000407562.1:p.Gly88Arg
ENST00000465913.1:n.119G>A
ENST00000492082.5:n.1113G>A
NM_000509.4:c.571G>A	NP_000500.2:p.Gly191Arg
NM_000509.5:c.571G>A	NP_000500.2:p.Gly191Arg
NM_021870.2:c.571G>A	NP_068656.2:p.Gly191Arg
NM_021870.3:c.571G>A MANE Select	NP_068656.2:p.Gly191Arg
NM_000509.6:c.571G>A	NP_000500.2:p.Gly191Arg