Canonical Allele Identifier: CA358514881
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569594T>C , CM000666.2:g.154569594T>C GRCh38
NC_000004.11:g.155490746T>C , CM000666.1:g.155490746T>C GRCh37
NC_000004.10:g.155710196T>C NCBI36
NG_008833.1:g.11615T>C , LRG_558:g.11615T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1039T>C MANE Select ENSP00000306099.4:p.Trp347Arg
ENST00000302068.8:c.1039T>C ENSP00000306099.4:p.Trp347Arg
ENST00000502545.5:n.939+287T>C
ENST00000509493.1:c.382T>C ENSP00000426757.1:p.Trp128Arg
NM_001184741.1:c.862T>C NP_001171670.1:p.Trp288Arg
NM_005141.4:c.1039T>C , LRG_558t1:c.1039T>C NP_005132.2:p.Trp347Arg
NM_001382759.1:c.907T>C NP_001369688.1:p.Trp303Arg
NM_001382760.1:c.1039T>C NP_001369689.1:p.Trp347Arg
NM_001382761.1:c.1039T>C NP_001369690.1:p.Trp347Arg
NM_001382762.1:c.746-7T>C NP_001369691.1:n.746-7T>C
NM_001382763.1:c.1030T>C NP_001369692.1:p.Trp344Arg
NM_001382764.1:c.1039T>C NP_001369693.1:p.Trp347Arg
NM_001382765.1:c.1039T>C NP_001369694.1:p.Trp347Arg
NM_005141.5:c.1039T>C MANE Select NP_005132.2:p.Trp347Arg