Canonical Allele Identifier: CA353364638
Gene: FLNB HGNC NCBI
FLNB-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2830849
ClinVar RCV Id: RCV003678880

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58163243T>A , CM000665.2:g.58163243T>A GRCh38
NC_000003.11:g.58148970T>A , CM000665.1:g.58148970T>A GRCh37
NC_000003.10:g.58124010T>A NCBI36
NG_012801.1:g.159844T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.2463T>A (FLNB)
ENST00000682503.1:n.1311T>A (FLNB)
ENST00000682871.1:c.6991T>A (FLNB) ENSP00000507805.1:p.Phe2331Ile
ENST00000683114.1:n.1782T>A (FLNB)
ENST00000684439.1:n.3422T>A (FLNB)
ENST00000684506.1:c.*5664T>A (FLNB) ENSP00000507728.1:n.*5664T>A
ENST00000684607.1:c.*203T>A (FLNB) ENSP00000508224.1:n.*203T>A
ENST00000295956.9:c.7111T>A (FLNB) MANE Select ENSP00000295956.5:p.Phe2371Ile
ENST00000295956.8:c.7111T>A (FLNB) ENSP00000295956.4:p.Phe2371Ile
ENST00000358537.7:c.7039T>A (FLNB) ENSP00000351339.3:p.Phe2347Ile
ENST00000429972.6:c.7078T>A (FLNB) ENSP00000415599.2:p.Phe2360Ile
ENST00000475487.1:n.272T>A (FLNB)
ENST00000481470.5:n.3379T>A (FLNB)
ENST00000490882.5:c.7204T>A (FLNB) ENSP00000420213.1:p.Phe2402Ile
ENST00000493452.5:c.6532T>A (FLNB) ENSP00000418510.1:p.Phe2178Ile
NM_001164317.1:c.7204T>A (FLNB) NP_001157789.1:p.Phe2402Ile
NM_001164318.1:c.7078T>A (FLNB) NP_001157790.1:p.Phe2360Ile
NM_001164319.1:c.7039T>A (FLNB) NP_001157791.1:p.Phe2347Ile
NM_001457.3:c.7111T>A (FLNB) NP_001448.2:p.Phe2371Ile
XM_005264977.1:c.7171T>A (FLNB) XP_005265034.1:p.Phe2391Ile
XM_005264978.1:c.7132T>A (FLNB) XP_005265035.1:p.Phe2378Ile
XR_940875.1:n.3012A>T (FLNB-AS1)
NR_135534.1:n.3012A>T (FLNB-AS1)
XM_005264978.2:c.7132T>A (FLNB) XP_005265035.1:p.Phe2378Ile
XR_001740065.1:n.7419T>A (FLNB)
NM_001164317.2:c.7204T>A (FLNB) NP_001157789.1:p.Phe2402Ile
NM_001164318.2:c.7078T>A (FLNB) NP_001157790.1:p.Phe2360Ile
NM_001164319.2:c.7039T>A (FLNB) NP_001157791.1:p.Phe2347Ile
NM_001457.4:c.7111T>A (FLNB) MANE Select NP_001448.2:p.Phe2371Ile