Canonical Allele Identifier: CA2467477

Gene: FLNB

Linked Data

• ClinVar Variation Id: 346298
• ClinVar RCV Id: RCV000325786 ; RCV002520164
• dbSNP Id: rs756221503
• ExAC: 3:57994524 A / G
• gnomAD v2: 3-57994524-A-G
• gnomAD v3: 3-58008797-A-G
• gnomAD v4: 3-58008797-A-G
• MyVariant Identifiers: chr3:g.57994524A>G (hg19) ; chr3:g.58008797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58008797A>G , CM000665.2:g.58008797A>G	GRCh38
NC_000003.11:g.57994524A>G , CM000665.1:g.57994524A>G	GRCh37
NC_000003.10:g.57969564A>G	NCBI36
NG_012801.1:g.5398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682097.1:c.233A>G	ENSP00000508183.1:p.Glu78Gly
ENST00000682868.1:n.376A>G
ENST00000682871.1:c.233A>G	ENSP00000507805.1:p.Glu78Gly
ENST00000682987.1:n.376A>G
ENST00000683511.1:n.392A>G
ENST00000684107.1:c.233A>G	ENSP00000507440.1:p.Glu78Gly
ENST00000684506.1:c.233A>G	ENSP00000507728.1:p.Glu78Gly
ENST00000684517.1:c.233A>G	ENSP00000507828.1:p.Glu78Gly
ENST00000684607.1:c.233A>G	ENSP00000508224.1:p.Glu78Gly
ENST00000295956.9:c.233A>G MANE Select	ENSP00000295956.5:p.Glu78Gly
ENST00000295956.8:c.233A>G	ENSP00000295956.4:p.Glu78Gly
ENST00000358537.7:c.233A>G	ENSP00000351339.3:p.Glu78Gly
ENST00000429972.6:c.233A>G	ENSP00000415599.2:p.Glu78Gly
ENST00000490882.5:c.233A>G	ENSP00000420213.1:p.Glu78Gly
NM_001164317.1:c.233A>G	NP_001157789.1:p.Glu78Gly
NM_001164318.1:c.233A>G	NP_001157790.1:p.Glu78Gly
NM_001164319.1:c.233A>G	NP_001157791.1:p.Glu78Gly
NM_001457.3:c.233A>G	NP_001448.2:p.Glu78Gly
XM_005264977.1:c.233A>G	XP_005265034.1:p.Glu78Gly
XM_005264978.1:c.233A>G	XP_005265035.1:p.Glu78Gly
XM_005264981.1:c.233A>G	XP_005265038.1:p.Glu78Gly
XR_940396.1:n.378A>G
XM_005264978.2:c.233A>G	XP_005265035.1:p.Glu78Gly
XR_001740065.1:n.378A>G
XR_940396.2:n.378A>G
NM_001164317.2:c.233A>G	NP_001157789.1:p.Glu78Gly
NM_001164318.2:c.233A>G	NP_001157790.1:p.Glu78Gly
NM_001164319.2:c.233A>G	NP_001157791.1:p.Glu78Gly
NM_001457.4:c.233A>G MANE Select	NP_001448.2:p.Glu78Gly