Canonical Allele Identifier: CA3114653
Community Standard Title: NM_005141.5(FGB):c.844A>T (p.Ile282Phe)
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569193A>T , CM000666.2:g.154569193A>T GRCh38
NC_000004.11:g.155490345A>T , CM000666.1:g.155490345A>T GRCh37
NC_000004.10:g.155709795A>T NCBI36
NG_008833.1:g.11214A>T , LRG_558:g.11214A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005141.5:c.844A>T MANE Select NP_005132.2:p.Ile282Phe
ENST00000302068.9:c.844A>T MANE Select ENSP00000306099.4:p.Ile282Phe
NM_001184741.1:c.667A>T NP_001171670.1:p.Ile223Phe
NM_001382759.1:c.712A>T NP_001369688.1:p.Ile238Phe
NM_001382760.1:c.844A>T NP_001369689.1:p.Ile282Phe
NM_001382761.1:c.844A>T NP_001369690.1:p.Ile282Phe
NM_001382762.1:c.746-408A>T NP_001369691.1:n.746-408A>T
NM_001382763.1:c.835A>T NP_001369692.1:p.Ile279Phe
NM_001382764.1:c.844A>T NP_001369693.1:p.Ile282Phe
NM_001382765.1:c.844A>T NP_001369694.1:p.Ile282Phe
NM_005141.4:c.844A>T , LRG_558t1:c.844A>T NP_005132.2:p.Ile282Phe
ENST00000302068.8:c.844A>T ENSP00000306099.4:p.Ile282Phe
ENST00000502545.5:n.825A>T
ENST00000509493.1:c.187A>T ENSP00000426757.1:p.Ile63Phe