Canonical Allele Identifier: CA126413
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 16374
ClinVar RCV Id: RCV000017796
dbSNP Id: rs121913095
MyVariant Identifiers: chr4:g.155526180C>G (hg19) chr4:g.154605028C>G (hg38)
PubMed: PMID:8822581 PMID:9368024
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154605028C>G , CM000666.2:g.154605028C>G GRCh38
NC_000004.11:g.155526180C>G , CM000666.1:g.155526180C>G GRCh37
NC_000004.10:g.155745630C>G NCBI36
NG_008834.1:g.12723G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336098.8:c.1168G>C MANE Select ENSP00000336829.3:p.Asp390His
ENST00000336098.7:c.1168G>C ENSP00000336829.3:p.Asp390His
ENST00000404648.7:c.1168G>C ENSP00000384860.3:p.Asp390His
ENST00000405164.5:c.1192G>C ENSP00000384101.1:p.Asp398His
ENST00000407946.5:c.1192G>C ENSP00000384552.1:p.Asp398His
ENST00000465913.1:n.716G>C
ENST00000492082.5:n.1710G>C
NM_000509.4:c.1168G>C NP_000500.2:p.Asp390His
NM_000509.5:c.1168G>C NP_000500.2:p.Asp390His
NM_021870.2:c.1168G>C NP_068656.2:p.Asp390His
NM_021870.3:c.1168G>C MANE Select NP_068656.2:p.Asp390His
NM_000509.6:c.1168G>C NP_000500.2:p.Asp390His
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