Canonical Allele Identifier: CA358535463
Gene: FGG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154605049C>T , CM000666.2:g.154605049C>T GRCh38
NC_000004.11:g.155526201C>T , CM000666.1:g.155526201C>T GRCh37
NC_000004.10:g.155745651C>T NCBI36
NG_008834.1:g.12702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1147G>A MANE Select ENSP00000336829.3:p.Ala383Thr
ENST00000336098.7:c.1147G>A ENSP00000336829.3:p.Ala383Thr
ENST00000404648.7:c.1147G>A ENSP00000384860.3:p.Ala383Thr
ENST00000405164.5:c.1171G>A ENSP00000384101.1:p.Ala391Thr
ENST00000407946.5:c.1171G>A ENSP00000384552.1:p.Ala391Thr
ENST00000465913.1:n.695G>A
ENST00000492082.5:n.1689G>A
NM_000509.4:c.1147G>A NP_000500.2:p.Ala383Thr
NM_000509.5:c.1147G>A NP_000500.2:p.Ala383Thr
NM_021870.2:c.1147G>A NP_068656.2:p.Ala383Thr
NM_021870.3:c.1147G>A MANE Select NP_068656.2:p.Ala383Thr
NM_000509.6:c.1147G>A NP_000500.2:p.Ala383Thr