Canonical Allele Identifier: CA245688
Gene: FLNB HGNC NCBI
FLNB-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197500
dbSNP Id: rs563382903
gnomAD v2: 3-58154222-C-T
gnomAD v3: 3-58168495-C-T
gnomAD v4: 3-58168495-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58168495C>T , CM000665.2:g.58168495C>T GRCh38
NC_000003.11:g.58154222C>T , CM000665.1:g.58154222C>T GRCh37
NC_000003.10:g.58129262C>T NCBI36
NG_012801.1:g.165096C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000419752.4:n.3923C>T (FLNB)
ENST00000682297.1:n.2606C>T (FLNB)
ENST00000682503.1:n.1454C>T (FLNB)
ENST00000682871.1:c.7134C>T (FLNB) ENSP00000507805.1:p.Ser2378=
ENST00000683114.1:n.1925C>T (FLNB)
ENST00000684439.1:n.3565C>T (FLNB)
ENST00000684506.1:c.*5807C>T (FLNB) ENSP00000507728.1:n.*5807C>T
ENST00000684607.1:c.*346C>T (FLNB) ENSP00000508224.1:n.*346C>T
ENST00000295956.9:c.7254C>T (FLNB) MANE Select ENSP00000295956.5:p.Ser2418=
ENST00000295956.8:c.7254C>T (FLNB) ENSP00000295956.4:p.Ser2418=
ENST00000358537.7:c.7182C>T (FLNB) ENSP00000351339.3:p.Ser2394=
ENST00000419752.3:c.-67C>T (FLNB) ENSP00000414532.3:n.-67C>T
ENST00000429972.6:c.7221C>T (FLNB) ENSP00000415599.2:p.Ser2407=
ENST00000481470.5:n.3522C>T (FLNB)
ENST00000484981.1:n.161C>T (FLNB)
ENST00000490882.5:c.7347C>T (FLNB) ENSP00000420213.1:p.Ser2449=
ENST00000493452.5:c.6675C>T (FLNB) ENSP00000418510.1:p.Ser2225=
NM_001164317.1:c.7347C>T (FLNB) NP_001157789.1:p.Ser2449=
NM_001164318.1:c.7221C>T (FLNB) NP_001157790.1:p.Ser2407=
NM_001164319.1:c.7182C>T (FLNB) NP_001157791.1:p.Ser2394=
NM_001457.3:c.7254C>T (FLNB) NP_001448.2:p.Ser2418=
XM_005264977.1:c.7314C>T (FLNB) XP_005265034.1:p.Ser2438=
XM_005264978.1:c.7275C>T (FLNB) XP_005265035.1:p.Ser2425=
XR_940875.1:n.139+2002G>A (FLNB-AS1)
NR_135534.1:n.139+2002G>A (FLNB-AS1)
XM_005264978.2:c.7275C>T (FLNB) XP_005265035.1:p.Ser2425=
XR_001740065.1:n.7562C>T (FLNB)
NM_001164317.2:c.7347C>T (FLNB) NP_001157789.1:p.Ser2449=
NM_001164318.2:c.7221C>T (FLNB) NP_001157790.1:p.Ser2407=
NM_001164319.2:c.7182C>T (FLNB) NP_001157791.1:p.Ser2394=
NM_001457.4:c.7254C>T (FLNB) MANE Select NP_001448.2:p.Ser2418=