Canonical Allele Identifier: CA441809363
Community Standard Title: NM_005141.5(FGB):c.139C>A (p.Arg47=)
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154565832C>A , CM000666.2:g.154565832C>A GRCh38
NC_000004.11:g.155486984C>A , CM000666.1:g.155486984C>A GRCh37
NC_000004.10:g.155706434C>A NCBI36
NG_008833.1:g.7853C>A , LRG_558:g.7853C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005141.5:c.139C>A MANE Select NP_005132.2:p.Arg47=
ENST00000302068.9:c.139C>A MANE Select ENSP00000306099.4:p.Arg47=
NM_001184741.1:c.139C>A NP_001171670.1:p.Arg47=
NM_001382759.1:c.139C>A NP_001369688.1:p.Arg47=
NM_001382760.1:c.139C>A NP_001369689.1:p.Arg47=
NM_001382761.1:c.139C>A NP_001369690.1:p.Arg47=
NM_001382762.1:c.139C>A NP_001369691.1:p.Arg47=
NM_001382763.1:c.139C>A NP_001369692.1:p.Arg47=
NM_001382764.1:c.139C>A NP_001369693.1:p.Arg47=
NM_001382765.1:c.139C>A NP_001369694.1:p.Arg47=
NM_005141.4:c.139C>A , LRG_558t1:c.139C>A NP_005132.2:p.Arg47=
ENST00000302068.8:c.139C>A ENSP00000306099.4:p.Arg47=
ENST00000425838.5:c.*51C>A ENSP00000398719.1:n.*51C>A
ENST00000473984.1:n.52C>A
ENST00000497097.5:n.146C>A
ENST00000498375.2:n.769C>A
ENST00000502545.5:n.120C>A
ENST00000509493.1:c.-167-1761C>A ENSP00000426757.1:n.-167-1761C>A