Canonical Allele Identifier: CA3114483

Gene: FGB

Linked Data

• ClinVar Variation Id: 347771
• ClinVar RCV Id: RCV000367655 ; RCV000861396
• dbSNP Id: rs6060
• ExAC: 4:155487136 C / T
• gnomAD v2: 4-155487136-C-T
• gnomAD v3: 4-154565984-C-T
• gnomAD v4: 4-154565984-C-T
• MyVariant Identifiers: chr4:g.155487136C>T (hg19) ; chr4:g.154565984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154565984C>T , CM000666.2:g.154565984C>T	GRCh38
NC_000004.11:g.155487136C>T , CM000666.1:g.155487136C>T	GRCh37
NC_000004.10:g.155706586C>T	NCBI36
NG_008833.1:g.8005C>T , LRG_558:g.8005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.291C>T MANE Select	ENSP00000306099.4:p.His97=
ENST00000302068.8:c.291C>T	ENSP00000306099.4:p.His97=
ENST00000425838.5:c.*203C>T	ENSP00000398719.1:n.*203C>T
ENST00000473984.1:n.204C>T
ENST00000497097.5:n.298C>T
ENST00000498375.2:n.921C>T
ENST00000502545.5:n.272C>T
ENST00000509493.1:c.-167-1609C>T	ENSP00000426757.1:n.-167-1609C>T
NM_001184741.1:c.165+126C>T	NP_001171670.1:n.165+126C>T
NM_005141.4:c.291C>T , LRG_558t1:c.291C>T	NP_005132.2:p.His97=
NM_001382759.1:c.291C>T	NP_001369688.1:p.His97=
NM_001382760.1:c.291C>T	NP_001369689.1:p.His97=
NM_001382761.1:c.291C>T	NP_001369690.1:p.His97=
NM_001382762.1:c.291C>T	NP_001369691.1:p.His97=
NM_001382763.1:c.291C>T	NP_001369692.1:p.His97=
NM_001382764.1:c.291C>T	NP_001369693.1:p.His97=
NM_001382765.1:c.291C>T	NP_001369694.1:p.His97=
NM_005141.5:c.291C>T MANE Select	NP_005132.2:p.His97=