Canonical Allele Identifier: CA3114436

Gene: FGB

Linked Data

• ClinVar Variation Id: 347768
• ClinVar RCV Id: RCV000364371 ; RCV001844136
• dbSNP Id: rs779228767
• ExAC: 4:155484289 AT / A
• gnomAD v2: 4-155484289-AT-A
• gnomAD v3: 4-154563137-AT-A
• gnomAD v4: 4-154563137-AT-A
• MyVariant Identifiers: chr4:g.155484295del (hg19) ; chr4:g.155484290del (hg19) ; chr4:g.154563143del (hg38) ; chr4:g.154563139del (hg38) ; chr4:g.154563138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154563143del , CM000666.2:g.154563143del	GRCh38
NC_000004.11:g.155484295del , CM000666.1:g.155484295del	GRCh37
NC_000004.10:g.155703745del	NCBI36
NG_008833.1:g.5164del , LRG_558:g.5164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.114+11del MANE Select	ENSP00000306099.4:n.114+11del
ENST00000302068.8:c.114+11del	ENSP00000306099.4:n.114+11del
ENST00000425838.5:c.114+11del	ENSP00000398719.1:n.114+11del
ENST00000497097.5:n.121+11del
ENST00000498375.2:n.122+11del
ENST00000502545.5:n.95+11del
ENST00000509493.1:c.-168+11del	ENSP00000426757.1:n.-168+11del
NM_001184741.1:c.114+11del	NP_001171670.1:n.114+11del
NM_005141.4:c.114+11del , LRG_558t1:c.114+11del	NP_005132.2:n.114+11del
NM_001382759.1:c.114+11del	NP_001369688.1:n.114+11del
NM_001382760.1:c.114+11del	NP_001369689.1:n.114+11del
NM_001382761.1:c.114+11del	NP_001369690.1:n.114+11del
NM_001382762.1:c.114+11del	NP_001369691.1:n.114+11del
NM_001382763.1:c.114+11del	NP_001369692.1:n.114+11del
NM_001382764.1:c.114+11del	NP_001369693.1:n.114+11del
NM_001382765.1:c.114+11del	NP_001369694.1:n.114+11del
NM_005141.5:c.114+11del MANE Select	NP_005132.2:n.114+11del