Canonical Allele Identifier: CA358515284
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569702C>T , CM000666.2:g.154569702C>T GRCh38
NC_000004.11:g.155490854C>T , CM000666.1:g.155490854C>T GRCh37
NC_000004.10:g.155710304C>T NCBI36
NG_008833.1:g.11723C>T , LRG_558:g.11723C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1147C>T MANE Select ENSP00000306099.4:p.Leu383Phe
ENST00000302068.8:c.1147C>T ENSP00000306099.4:p.Leu383Phe
ENST00000502545.5:n.939+395C>T
ENST00000509493.1:c.490C>T ENSP00000426757.1:p.Leu164Phe
NM_001184741.1:c.970C>T NP_001171670.1:p.Leu324Phe
NM_005141.4:c.1147C>T , LRG_558t1:c.1147C>T NP_005132.2:p.Leu383Phe
NM_001382759.1:c.1015C>T NP_001369688.1:p.Leu339Phe
NM_001382760.1:c.1147C>T NP_001369689.1:p.Leu383Phe
NM_001382761.1:c.1147C>T NP_001369690.1:p.Leu383Phe
NM_001382762.1:c.847C>T NP_001369691.1:p.Leu283Phe
NM_001382763.1:c.1138C>T NP_001369692.1:p.Leu380Phe
NM_001382764.1:c.1080+67C>T NP_001369693.1:n.1080+67C>T
NM_001382765.1:c.1147C>T NP_001369694.1:p.Leu383Phe
NM_005141.5:c.1147C>T MANE Select NP_005132.2:p.Leu383Phe