Canonical Allele Identifier: CA126434
Gene: FGB HGNC NCBI
COSMIC:
COSM4415223 (not active)
MyVariant.info:
GRCh38 chr4:g.154570607G>A
GRCh37 chr4:g.155491759G>A
Revel Score:
ENST00000302068 (MANE Select) 0.224
ENST00000537843 0.224
ENST00000509493 0.224
gnomAD v2:
4:155491759 G / A
gnomAD v3:
4:154570607 G / A
gnomAD v4:
chr4-154570607-G-A
Joint Max Group AF 0.20321705 (MID)
Genomes Max Group AF 0.207121 (EAS)
Exomes Max Group AF 0.20334314 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154570607G>A , CM000666.2:g.154570607G>A GRCh38
NC_000004.11:g.155491759G>A , CM000666.1:g.155491759G>A GRCh37
NC_000004.10:g.155711209G>A NCBI36
NG_008833.1:g.12628G>A , LRG_558:g.12628G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1433G>A MANE Select ENSP00000306099.4:p.Arg478Lys
ENST00000302068.8:c.1433G>A ENSP00000306099.4:p.Arg478Lys
ENST00000502545.5:n.1128G>A
ENST00000509493.1:c.776G>A ENSP00000426757.1:p.Arg259Lys
NM_001184741.1:c.1256G>A NP_001171670.1:p.Arg419Lys
NM_005141.4:c.1433G>A , LRG_558t1:c.1433G>A NP_005132.2:p.Arg478Lys
NM_001382759.1:c.1301G>A NP_001369688.1:p.Arg434Lys
NM_001382760.1:c.1245-10G>A NP_001369689.1:n.1245-10G>A
NM_001382761.1:c.*98G>A NP_001369690.1:n.*98G>A
NM_001382762.1:c.1133G>A NP_001369691.1:p.Arg378Lys
NM_001382763.1:c.1424G>A NP_001369692.1:p.Arg475Lys
NM_001382764.1:c.*207G>A NP_001369693.1:n.*207G>A
NM_001382765.1:c.1409G>A NP_001369694.1:p.Arg470Lys
NM_005141.5:c.1433G>A MANE Select NP_005132.2:p.Arg478Lys
Search 100 bp 5'
Search 100 bp 3'