Canonical Allele Identifier: CA108750012

Gene: FGB

Linked Data

• dbSNP Id: rs571624045
• gnomAD v2: 4-155487066-G-A
• gnomAD v3: 4-154565914-G-A
• gnomAD v4: 4-154565914-G-A
• COSMIC: COSM4122943
• MyVariant Identifiers: chr4:g.155487066G>A (hg19) ; chr4:g.154565914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154565914G>A , CM000666.2:g.154565914G>A	GRCh38
NC_000004.11:g.155487066G>A , CM000666.1:g.155487066G>A	GRCh37
NC_000004.10:g.155706516G>A	NCBI36
NG_008833.1:g.7935G>A , LRG_558:g.7935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.221G>A MANE Select	ENSP00000306099.4:p.Arg74His
ENST00000302068.8:c.221G>A	ENSP00000306099.4:p.Arg74His
ENST00000425838.5:c.*133G>A	ENSP00000398719.1:n.*133G>A
ENST00000473984.1:n.134G>A
ENST00000497097.5:n.228G>A
ENST00000498375.2:n.851G>A
ENST00000502545.5:n.202G>A
ENST00000509493.1:c.-167-1679G>A	ENSP00000426757.1:n.-167-1679G>A
NM_001184741.1:c.165+56G>A	NP_001171670.1:n.165+56G>A
NM_005141.4:c.221G>A , LRG_558t1:c.221G>A	NP_005132.2:p.Arg74His
NM_001382759.1:c.221G>A	NP_001369688.1:p.Arg74His
NM_001382760.1:c.221G>A	NP_001369689.1:p.Arg74His
NM_001382761.1:c.221G>A	NP_001369690.1:p.Arg74His
NM_001382762.1:c.221G>A	NP_001369691.1:p.Arg74His
NM_001382763.1:c.221G>A	NP_001369692.1:p.Arg74His
NM_001382764.1:c.221G>A	NP_001369693.1:p.Arg74His
NM_001382765.1:c.221G>A	NP_001369694.1:p.Arg74His
NM_005141.5:c.221G>A MANE Select	NP_005132.2:p.Arg74His