Canonical Allele Identifier: CA358515195
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569678T>C , CM000666.2:g.154569678T>C GRCh38
NC_000004.11:g.155490830T>C , CM000666.1:g.155490830T>C GRCh37
NC_000004.10:g.155710280T>C NCBI36
NG_008833.1:g.11699T>C , LRG_558:g.11699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1123T>C MANE Select ENSP00000306099.4:p.Tyr375His
ENST00000302068.8:c.1123T>C ENSP00000306099.4:p.Tyr375His
ENST00000502545.5:n.939+371T>C
ENST00000509493.1:c.466T>C ENSP00000426757.1:p.Tyr156His
NM_001184741.1:c.946T>C NP_001171670.1:p.Tyr316His
NM_005141.4:c.1123T>C , LRG_558t1:c.1123T>C NP_005132.2:p.Tyr375His
NM_001382759.1:c.991T>C NP_001369688.1:p.Tyr331His
NM_001382760.1:c.1123T>C NP_001369689.1:p.Tyr375His
NM_001382761.1:c.1123T>C NP_001369690.1:p.Tyr375His
NM_001382762.1:c.823T>C NP_001369691.1:p.Tyr275His
NM_001382763.1:c.1114T>C NP_001369692.1:p.Tyr372His
NM_001382764.1:c.1080+43T>C NP_001369693.1:n.1080+43T>C
NM_001382765.1:c.1123T>C NP_001369694.1:p.Tyr375His
NM_005141.5:c.1123T>C MANE Select NP_005132.2:p.Tyr375His