Canonical Allele Identifier: CA2467489

Gene: FLNB

Linked Data

• ClinVar Variation Id: 258102
• ClinVar RCV Id: RCV000244732 ; RCV001145703 ; RCV001812706
• dbSNP Id: rs200721532
• ExAC: 3:57994597 C / G
• gnomAD v2: 3-57994597-C-G
• gnomAD v3: 3-58008870-C-G
• gnomAD v4: 3-58008870-C-G
• MyVariant Identifiers: chr3:g.57994597C>G (hg19) ; chr3:g.58008870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58008870C>G , CM000665.2:g.58008870C>G	GRCh38
NC_000003.11:g.57994597C>G , CM000665.1:g.57994597C>G	GRCh37
NC_000003.10:g.57969637C>G	NCBI36
NG_012801.1:g.5471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682097.1:c.292+14C>G	ENSP00000508183.1:n.292+14C>G
ENST00000682868.1:n.435+14C>G
ENST00000682871.1:c.292+14C>G	ENSP00000507805.1:n.292+14C>G
ENST00000682987.1:n.435+14C>G
ENST00000683511.1:n.451+14C>G
ENST00000684107.1:c.292+14C>G	ENSP00000507440.1:n.292+14C>G
ENST00000684506.1:c.292+14C>G	ENSP00000507728.1:n.292+14C>G
ENST00000684517.1:c.292+14C>G	ENSP00000507828.1:n.292+14C>G
ENST00000684607.1:c.292+14C>G	ENSP00000508224.1:n.292+14C>G
ENST00000295956.9:c.292+14C>G MANE Select	ENSP00000295956.5:n.292+14C>G
ENST00000295956.8:c.292+14C>G	ENSP00000295956.4:n.292+14C>G
ENST00000358537.7:c.292+14C>G	ENSP00000351339.3:n.292+14C>G
ENST00000429972.6:c.292+14C>G	ENSP00000415599.2:n.292+14C>G
ENST00000490882.5:c.292+14C>G	ENSP00000420213.1:n.292+14C>G
NM_001164317.1:c.292+14C>G	NP_001157789.1:n.292+14C>G
NM_001164318.1:c.292+14C>G	NP_001157790.1:n.292+14C>G
NM_001164319.1:c.292+14C>G	NP_001157791.1:n.292+14C>G
NM_001457.3:c.292+14C>G	NP_001448.2:n.292+14C>G
XM_005264977.1:c.292+14C>G	XP_005265034.1:n.292+14C>G
XM_005264978.1:c.292+14C>G	XP_005265035.1:n.292+14C>G
XM_005264981.1:c.292+14C>G	XP_005265038.1:n.292+14C>G
XR_940396.1:n.437+14C>G
XM_005264978.2:c.292+14C>G	XP_005265035.1:n.292+14C>G
XR_001740065.1:n.437+14C>G
XR_940396.2:n.437+14C>G
NM_001164317.2:c.292+14C>G	NP_001157789.1:n.292+14C>G
NM_001164318.2:c.292+14C>G	NP_001157790.1:n.292+14C>G
NM_001164319.2:c.292+14C>G	NP_001157791.1:n.292+14C>G
NM_001457.4:c.292+14C>G MANE Select	NP_001448.2:n.292+14C>G