Canonical Allele Identifier: CA10620302
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 347827
ClinVar RCV Id: RCV000333369
dbSNP Id: rs886059154

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604959T>C , CM000666.2:g.154604959T>C GRCh38
NC_000004.11:g.155526111T>C , CM000666.1:g.155526111T>C GRCh37
NC_000004.10:g.155745561T>C NCBI36
NG_008834.1:g.12792A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1237A>G MANE Select ENSP00000336829.3:p.Ile413Val
ENST00000336098.7:c.1237A>G ENSP00000336829.3:p.Ile413Val
ENST00000404648.7:c.1237A>G ENSP00000384860.3:p.Ile413Val
ENST00000405164.5:c.1261A>G ENSP00000384101.1:p.Ile421Val
ENST00000407946.5:c.1261A>G ENSP00000384552.1:p.Ile421Val
ENST00000465913.1:n.785A>G
ENST00000492082.5:n.1779A>G
NM_000509.4:c.1237A>G NP_000500.2:p.Ile413Val
NM_000509.5:c.1237A>G NP_000500.2:p.Ile413Val
NM_021870.2:c.1237A>G NP_068656.2:p.Ile413Val
NM_021870.3:c.1237A>G MANE Select NP_068656.2:p.Ile413Val
NM_000509.6:c.1237A>G NP_000500.2:p.Ile413Val