Canonical Allele Identifier: CA3115481

Gene: FGG

Linked Data

• ClinVar Variation Id: 2573605
• ClinVar RCV Id: RCV003317941
• dbSNP Id: rs369271819
• ExAC: 4:155526218 C / A
• gnomAD v2: 4-155526218-C-A
• gnomAD v3: 4-154605066-C-A
• gnomAD v4: 4-154605066-C-A
• MyVariant Identifiers: chr4:g.155526218C>A (hg19) ; chr4:g.154605066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154605066C>A , CM000666.2:g.154605066C>A	GRCh38
NC_000004.11:g.155526218C>A , CM000666.1:g.155526218C>A	GRCh37
NC_000004.10:g.155745668C>A	NCBI36
NG_008834.1:g.12685G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.1130G>T MANE Select	ENSP00000336829.3:p.Gly377Val
ENST00000336098.7:c.1130G>T	ENSP00000336829.3:p.Gly377Val
ENST00000404648.7:c.1130G>T	ENSP00000384860.3:p.Gly377Val
ENST00000405164.5:c.1154G>T	ENSP00000384101.1:p.Gly385Val
ENST00000407946.5:c.1154G>T	ENSP00000384552.1:p.Gly385Val
ENST00000465913.1:n.678G>T
ENST00000492082.5:n.1672G>T
NM_000509.4:c.1130G>T	NP_000500.2:p.Gly377Val
NM_000509.5:c.1130G>T	NP_000500.2:p.Gly377Val
NM_021870.2:c.1130G>T	NP_068656.2:p.Gly377Val
NM_021870.3:c.1130G>T MANE Select	NP_068656.2:p.Gly377Val
NM_000509.6:c.1130G>T	NP_000500.2:p.Gly377Val