Canonical Allele Identifier: CA358535392
Gene: FGG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154605016T>A , CM000666.2:g.154605016T>A GRCh38
NC_000004.11:g.155526168T>A , CM000666.1:g.155526168T>A GRCh37
NC_000004.10:g.155745618T>A NCBI36
NG_008834.1:g.12735A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1180A>T MANE Select ENSP00000336829.3:p.Ile394Phe
ENST00000336098.7:c.1180A>T ENSP00000336829.3:p.Ile394Phe
ENST00000404648.7:c.1180A>T ENSP00000384860.3:p.Ile394Phe
ENST00000405164.5:c.1204A>T ENSP00000384101.1:p.Ile402Phe
ENST00000407946.5:c.1204A>T ENSP00000384552.1:p.Ile402Phe
ENST00000465913.1:n.728A>T
ENST00000492082.5:n.1722A>T
NM_000509.4:c.1180A>T NP_000500.2:p.Ile394Phe
NM_000509.5:c.1180A>T NP_000500.2:p.Ile394Phe
NM_021870.2:c.1180A>T NP_068656.2:p.Ile394Phe
NM_021870.3:c.1180A>T MANE Select NP_068656.2:p.Ile394Phe
NM_000509.6:c.1180A>T NP_000500.2:p.Ile394Phe