Canonical Allele Identifier: CA1504935526
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569704C= , CM000666.2:g.154569704C= GRCh38
NC_000004.11:g.155490856C= , CM000666.1:g.155490856C= GRCh37
NC_000004.10:g.155710306C= NCBI36
NG_008833.1:g.11725C= , LRG_558:g.11725C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1149C= MANE Select ENSP00000306099.4:p.Leu383=
ENST00000302068.8:c.1149C= ENSP00000306099.4:p.Leu383=
ENST00000502545.5:n.939+397C=
ENST00000509493.1:c.492C= ENSP00000426757.1:p.Leu164=
NM_001184741.1:c.972C= NP_001171670.1:p.Leu324=
NM_005141.4:c.1149C= , LRG_558t1:c.1149C= NP_005132.2:p.Leu383=
NM_001382759.1:c.1017C= NP_001369688.1:p.Leu339=
NM_001382760.1:c.1149C= NP_001369689.1:p.Leu383=
NM_001382761.1:c.1149C= NP_001369690.1:p.Leu383=
NM_001382762.1:c.849C= NP_001369691.1:p.Leu283=
NM_001382763.1:c.1140C= NP_001369692.1:p.Leu380=
NM_001382764.1:c.1081-69C= NP_001369693.1:n.1081-69C=
NM_001382765.1:c.1149C= NP_001369694.1:p.Leu383=
NM_005141.5:c.1149C= MANE Select NP_005132.2:p.Leu383=