Canonical Allele Identifier: CA358515361
Gene: FGB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569723C>G , CM000666.2:g.154569723C>G GRCh38
NC_000004.11:g.155490875C>G , CM000666.1:g.155490875C>G GRCh37
NC_000004.10:g.155710325C>G NCBI36
NG_008833.1:g.11744C>G , LRG_558:g.11744C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1168C>G MANE Select ENSP00000306099.4:p.Leu390Val
ENST00000302068.8:c.1168C>G ENSP00000306099.4:p.Leu390Val
ENST00000502545.5:n.939+416C>G
ENST00000509493.1:c.511C>G ENSP00000426757.1:p.Leu171Val
NM_001184741.1:c.991C>G NP_001171670.1:p.Leu331Val
NM_005141.4:c.1168C>G , LRG_558t1:c.1168C>G NP_005132.2:p.Leu390Val
NM_001382759.1:c.1036C>G NP_001369688.1:p.Leu346Val
NM_001382760.1:c.1168C>G NP_001369689.1:p.Leu390Val
NM_001382761.1:c.1168C>G NP_001369690.1:p.Leu390Val
NM_001382762.1:c.868C>G NP_001369691.1:p.Leu290Val
NM_001382763.1:c.1159C>G NP_001369692.1:p.Leu387Val
NM_001382764.1:c.1081-50C>G NP_001369693.1:n.1081-50C>G
NM_001382765.1:c.1168C>G NP_001369694.1:p.Leu390Val
NM_005141.5:c.1168C>G MANE Select NP_005132.2:p.Leu390Val