Canonical Allele Identifier: CA358514889
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569596G>C , CM000666.2:g.154569596G>C GRCh38
NC_000004.11:g.155490748G>C , CM000666.1:g.155490748G>C GRCh37
NC_000004.10:g.155710198G>C NCBI36
NG_008833.1:g.11617G>C , LRG_558:g.11617G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1041G>C MANE Select ENSP00000306099.4:p.Trp347Cys
ENST00000302068.8:c.1041G>C ENSP00000306099.4:p.Trp347Cys
ENST00000502545.5:n.939+289G>C
ENST00000509493.1:c.384G>C ENSP00000426757.1:p.Trp128Cys
NM_001184741.1:c.864G>C NP_001171670.1:p.Trp288Cys
NM_005141.4:c.1041G>C , LRG_558t1:c.1041G>C NP_005132.2:p.Trp347Cys
NM_001382759.1:c.909G>C NP_001369688.1:p.Trp303Cys
NM_001382760.1:c.1041G>C NP_001369689.1:p.Trp347Cys
NM_001382761.1:c.1041G>C NP_001369690.1:p.Trp347Cys
NM_001382762.1:c.746-5G>C NP_001369691.1:n.746-5G>C
NM_001382763.1:c.1032G>C NP_001369692.1:p.Trp344Cys
NM_001382764.1:c.1041G>C NP_001369693.1:p.Trp347Cys
NM_001382765.1:c.1041G>C NP_001369694.1:p.Trp347Cys
NM_005141.5:c.1041G>C MANE Select NP_005132.2:p.Trp347Cys