Canonical Allele Identifier: CA126393
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 16363
ClinVar RCV Id: RCV000017783 RCV003944828
dbSNP Id: rs121913089
MyVariant Identifiers: chr4:g.155528033C>A (hg19) chr4:g.154606881C>A (hg38)
PubMed: PMID:1133167 PMID:2257302 PMID:4956920
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154606881C>A , CM000666.2:g.154606881C>A GRCh38
NC_000004.11:g.155528033C>A , CM000666.1:g.155528033C>A GRCh37
NC_000004.10:g.155747483C>A NCBI36
NG_008834.1:g.10870G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336098.8:c.953G>T MANE Select ENSP00000336829.3:p.Gly318Val
ENST00000336098.7:c.953G>T ENSP00000336829.3:p.Gly318Val
ENST00000404648.7:c.953G>T ENSP00000384860.3:p.Gly318Val
ENST00000405164.5:c.977G>T ENSP00000384101.1:p.Gly326Val
ENST00000407946.5:c.977G>T ENSP00000384552.1:p.Gly326Val
ENST00000465913.1:n.501G>T
ENST00000492082.5:n.1495G>T
NM_000509.4:c.953G>T NP_000500.2:p.Gly318Val
NM_000509.5:c.953G>T NP_000500.2:p.Gly318Val
NM_021870.2:c.953G>T NP_068656.2:p.Gly318Val
NM_021870.3:c.953G>T MANE Select NP_068656.2:p.Gly318Val
NM_000509.6:c.953G>T NP_000500.2:p.Gly318Val
Search 100 bp 5'
Search 100 bp 3'