Canonical Allele Identifier: CA358515287
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569703T>A , CM000666.2:g.154569703T>A GRCh38
NC_000004.11:g.155490855T>A , CM000666.1:g.155490855T>A GRCh37
NC_000004.10:g.155710305T>A NCBI36
NG_008833.1:g.11724T>A , LRG_558:g.11724T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302068.9:c.1148T>A MANE Select ENSP00000306099.4:p.Leu383His
ENST00000302068.8:c.1148T>A ENSP00000306099.4:p.Leu383His
ENST00000502545.5:n.939+396T>A
ENST00000509493.1:c.491T>A ENSP00000426757.1:p.Leu164His
NM_001184741.1:c.971T>A NP_001171670.1:p.Leu324His
NM_005141.4:c.1148T>A , LRG_558t1:c.1148T>A NP_005132.2:p.Leu383His
NM_001382759.1:c.1016T>A NP_001369688.1:p.Leu339His
NM_001382760.1:c.1148T>A NP_001369689.1:p.Leu383His
NM_001382761.1:c.1148T>A NP_001369690.1:p.Leu383His
NM_001382762.1:c.848T>A NP_001369691.1:p.Leu283His
NM_001382763.1:c.1139T>A NP_001369692.1:p.Leu380His
NM_001382764.1:c.1080+68T>A NP_001369693.1:n.1080+68T>A
NM_001382765.1:c.1148T>A NP_001369694.1:p.Leu383His
NM_005141.5:c.1148T>A MANE Select NP_005132.2:p.Leu383His