Canonical Allele Identifier: CA126408
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 16370
ClinVar RCV Id: RCV000017790
dbSNP Id: rs121913094
MyVariant Identifiers: chr4:g.155527919T>A (hg19) chr4:g.154606767T>A (hg38)
PubMed: PMID:3563970 PMID:11071644
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154606767T>A , CM000666.2:g.154606767T>A GRCh38
NC_000004.11:g.155527919T>A , CM000666.1:g.155527919T>A GRCh37
NC_000004.10:g.155747369T>A NCBI36
NG_008834.1:g.10984A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336098.8:c.1067A>T MANE Select ENSP00000336829.3:p.Asp356Val
ENST00000336098.7:c.1067A>T ENSP00000336829.3:p.Asp356Val
ENST00000404648.7:c.1067A>T ENSP00000384860.3:p.Asp356Val
ENST00000405164.5:c.1091A>T ENSP00000384101.1:p.Asp364Val
ENST00000407946.5:c.1091A>T ENSP00000384552.1:p.Asp364Val
ENST00000465913.1:n.615A>T
ENST00000492082.5:n.1609A>T
NM_000509.4:c.1067A>T NP_000500.2:p.Asp356Val
NM_000509.5:c.1067A>T NP_000500.2:p.Asp356Val
NM_021870.2:c.1067A>T NP_068656.2:p.Asp356Val
NM_021870.3:c.1067A>T MANE Select NP_068656.2:p.Asp356Val
NM_000509.6:c.1067A>T NP_000500.2:p.Asp356Val
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