Canonical Allele Identifier: CA358515282
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1147C>A MANE Select ENSP00000306099.4:p.Leu383Ile
ENST00000302068.8:c.1147C>A ENSP00000306099.4:p.Leu383Ile
ENST00000502545.5:n.939+395C>A
ENST00000509493.1:c.490C>A ENSP00000426757.1:p.Leu164Ile
NM_001184741.1:c.970C>A NP_001171670.1:p.Leu324Ile
NM_005141.4:c.1147C>A , LRG_558t1:c.1147C>A NP_005132.2:p.Leu383Ile
NM_001382759.1:c.1015C>A NP_001369688.1:p.Leu339Ile
NM_001382760.1:c.1147C>A NP_001369689.1:p.Leu383Ile
NM_001382761.1:c.1147C>A NP_001369690.1:p.Leu383Ile
NM_001382762.1:c.847C>A NP_001369691.1:p.Leu283Ile
NM_001382763.1:c.1138C>A NP_001369692.1:p.Leu380Ile
NM_001382764.1:c.1080+67C>A NP_001369693.1:n.1080+67C>A
NM_001382765.1:c.1147C>A NP_001369694.1:p.Leu383Ile
NM_005141.5:c.1147C>A MANE Select NP_005132.2:p.Leu383Ile