Canonical Allele Identifier: CA358508247

Gene: FGB

Linked Data

• ClinVar Variation Id: 1982341
• ClinVar RCV Id: RCV002766704
• dbSNP Id: rs773855571
• MyVariant Identifiers: chr4:g.155486970G>C (hg19) ; chr4:g.154565818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154565818G>C , CM000666.2:g.154565818G>C	GRCh38
NC_000004.11:g.155486970G>C , CM000666.1:g.155486970G>C	GRCh37
NC_000004.10:g.155706420G>C	NCBI36
NG_008833.1:g.7839G>C , LRG_558:g.7839G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302068.9:c.125G>C MANE Select	ENSP00000306099.4:p.Ser42Thr
ENST00000302068.8:c.125G>C	ENSP00000306099.4:p.Ser42Thr
ENST00000425838.5:c.*37G>C	ENSP00000398719.1:n.*37G>C
ENST00000473984.1:n.38G>C
ENST00000497097.5:n.132G>C
ENST00000498375.2:n.755G>C
ENST00000502545.5:n.106G>C
ENST00000509493.1:c.-167-1775G>C	ENSP00000426757.1:n.-167-1775G>C
NM_001184741.1:c.125G>C	NP_001171670.1:p.Ser42Thr
NM_005141.4:c.125G>C , LRG_558t1:c.125G>C	NP_005132.2:p.Ser42Thr
NM_001382759.1:c.125G>C	NP_001369688.1:p.Ser42Thr
NM_001382760.1:c.125G>C	NP_001369689.1:p.Ser42Thr
NM_001382761.1:c.125G>C	NP_001369690.1:p.Ser42Thr
NM_001382762.1:c.125G>C	NP_001369691.1:p.Ser42Thr
NM_001382763.1:c.125G>C	NP_001369692.1:p.Ser42Thr
NM_001382764.1:c.125G>C	NP_001369693.1:p.Ser42Thr
NM_001382765.1:c.125G>C	NP_001369694.1:p.Ser42Thr
NM_005141.5:c.125G>C MANE Select	NP_005132.2:p.Ser42Thr