Canonical Allele Identifier: CA2469211

Gene: FLNB

Linked Data

• ClinVar Variation Id: 346353
• ClinVar RCV Id: RCV000370591 ; RCV002487523 ; RCV003546541
• dbSNP Id: rs368965386
• ExAC: 3:58134405 G / A
• gnomAD v2: 3-58134405-G-A
• gnomAD v3: 3-58148678-G-A
• gnomAD v4: 3-58148678-G-A
• COSMIC: COSM4119633 ; COSM4119634 ; COSM4119635
• MyVariant Identifiers: chr3:g.58134405G>A (hg19) ; chr3:g.58148678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58148678G>A , CM000665.2:g.58148678G>A	GRCh38
NC_000003.11:g.58134405G>A , CM000665.1:g.58134405G>A	GRCh37
NC_000003.10:g.58109445G>A	NCBI36
NG_012801.1:g.145279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.1269G>A
ENST00000682871.1:c.5797G>A	ENSP00000507805.1:p.Glu1933Lys
ENST00000683925.1:n.2015G>A
ENST00000684439.1:n.2228G>A
ENST00000684506.1:c.*4470G>A	ENSP00000507728.1:n.*4470G>A
ENST00000684607.1:c.5938G>A	ENSP00000508224.1:p.Glu1980Lys
ENST00000295956.9:c.5917G>A MANE Select	ENSP00000295956.5:p.Glu1973Lys
ENST00000295956.8:c.5917G>A	ENSP00000295956.4:p.Glu1973Lys
ENST00000358537.7:c.5845G>A	ENSP00000351339.3:p.Glu1949Lys
ENST00000429972.6:c.5884G>A	ENSP00000415599.2:p.Glu1962Lys
ENST00000481470.5:n.2185G>A
ENST00000490882.5:c.6010G>A	ENSP00000420213.1:p.Glu2004Lys
ENST00000493452.5:c.5338G>A	ENSP00000418510.1:p.Glu1780Lys
NM_001164317.1:c.6010G>A	NP_001157789.1:p.Glu2004Lys
NM_001164318.1:c.5884G>A	NP_001157790.1:p.Glu1962Lys
NM_001164319.1:c.5845G>A	NP_001157791.1:p.Glu1949Lys
NM_001457.3:c.5917G>A	NP_001448.2:p.Glu1973Lys
XM_005264977.1:c.5977G>A	XP_005265034.1:p.Glu1993Lys
XM_005264978.1:c.5938G>A	XP_005265035.1:p.Glu1980Lys
XM_005264981.1:c.6010G>A	XP_005265038.1:p.Glu2004Lys
XR_940396.1:n.6155G>A
XM_005264978.2:c.5938G>A	XP_005265035.1:p.Glu1980Lys
XR_001740065.1:n.6155G>A
XR_940396.2:n.6155G>A
NM_001164317.2:c.6010G>A	NP_001157789.1:p.Glu2004Lys
NM_001164318.2:c.5884G>A	NP_001157790.1:p.Glu1962Lys
NM_001164319.2:c.5845G>A	NP_001157791.1:p.Glu1949Lys
NM_001457.4:c.5917G>A MANE Select	NP_001448.2:p.Glu1973Lys