Canonical Allele Identifier: CA253861

Gene: FLNB

Linked Data

• ClinVar Variation Id: 6407
• ClinVar RCV Id: RCV000006776
• dbSNP Id: rs121908897
• gnomAD v2: 3-58134498-C-T
• gnomAD v4: 3-58148771-C-T
• MyVariant Identifiers: chr3:g.58134498C>T (hg19) ; chr3:g.58148771C>T (hg38)
• PubMed: PMID:18257094

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58148771C>T , CM000665.2:g.58148771C>T	GRCh38
NC_000003.11:g.58134498C>T , CM000665.1:g.58134498C>T	GRCh37
NC_000003.10:g.58109538C>T	NCBI36
NG_012801.1:g.145372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.1362C>T
ENST00000682871.1:c.5890C>T	ENSP00000507805.1:p.Arg1964Ter
ENST00000683925.1:n.2108C>T
ENST00000684439.1:n.2321C>T
ENST00000684506.1:c.*4563C>T	ENSP00000507728.1:n.*4563C>T
ENST00000684607.1:c.6031C>T	ENSP00000508224.1:p.Arg2011Ter
ENST00000295956.9:c.6010C>T MANE Select	ENSP00000295956.5:p.Arg2004Ter
ENST00000295956.8:c.6010C>T	ENSP00000295956.4:p.Arg2004Ter
ENST00000358537.7:c.5938C>T	ENSP00000351339.3:p.Arg1980Ter
ENST00000429972.6:c.5977C>T	ENSP00000415599.2:p.Arg1993Ter
ENST00000481470.5:n.2278C>T
ENST00000490882.5:c.6103C>T	ENSP00000420213.1:p.Arg2035Ter
ENST00000493452.5:c.5431C>T	ENSP00000418510.1:p.Arg1811Ter
NM_001164317.1:c.6103C>T	NP_001157789.1:p.Arg2035Ter
NM_001164318.1:c.5977C>T	NP_001157790.1:p.Arg1993Ter
NM_001164319.1:c.5938C>T	NP_001157791.1:p.Arg1980Ter
NM_001457.3:c.6010C>T	NP_001448.2:p.Arg2004Ter
XM_005264977.1:c.6070C>T	XP_005265034.1:p.Arg2024Ter
XM_005264978.1:c.6031C>T	XP_005265035.1:p.Arg2011Ter
XM_005264981.1:c.6103C>T	XP_005265038.1:p.Arg2035Ter
XR_940396.1:n.6248C>T
XM_005264978.2:c.6031C>T	XP_005265035.1:p.Arg2011Ter
XR_001740065.1:n.6248C>T
XR_940396.2:n.6248C>T
NM_001164317.2:c.6103C>T	NP_001157789.1:p.Arg2035Ter
NM_001164318.2:c.5977C>T	NP_001157790.1:p.Arg1993Ter
NM_001164319.2:c.5938C>T	NP_001157791.1:p.Arg1980Ter
NM_001457.4:c.6010C>T MANE Select	NP_001448.2:p.Arg2004Ter