Canonical Allele Identifier: CA130016

Gene: FLNB

Linked Data

• ClinVar Variation Id: 6398
• ClinVar RCV Id: RCV000030660 ; RCV002276538
• dbSNP Id: rs80356506
• MyVariant Identifiers: chr3:g.58062962T>G (hg19) ; chr3:g.58077235T>G (hg38)
• PubMed: PMID:14991055 ; PMID:20301736

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58077235T>G , CM000665.2:g.58077235T>G	GRCh38
NC_000003.11:g.58062962T>G , CM000665.1:g.58062962T>G	GRCh37
NC_000003.10:g.58038002T>G	NCBI36
NG_012801.1:g.73836T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682097.1:c.482T>G	ENSP00000508183.1:p.Phe161Cys
ENST00000682868.1:n.625T>G
ENST00000682871.1:c.482T>G	ENSP00000507805.1:p.Phe161Cys
ENST00000682987.1:n.625T>G
ENST00000683511.1:n.641T>G
ENST00000684107.1:c.482T>G	ENSP00000507440.1:p.Phe161Cys
ENST00000684506.1:c.482T>G	ENSP00000507728.1:p.Phe161Cys
ENST00000684517.1:c.482T>G	ENSP00000507828.1:p.Phe161Cys
ENST00000684607.1:c.482T>G	ENSP00000508224.1:p.Phe161Cys
ENST00000295956.9:c.482T>G MANE Select	ENSP00000295956.5:p.Phe161Cys
ENST00000295956.8:c.482T>G	ENSP00000295956.4:p.Phe161Cys
ENST00000358537.7:c.482T>G	ENSP00000351339.3:p.Phe161Cys
ENST00000429972.6:c.482T>G	ENSP00000415599.2:p.Phe161Cys
ENST00000490882.5:c.482T>G	ENSP00000420213.1:p.Phe161Cys
NM_001164317.1:c.482T>G	NP_001157789.1:p.Phe161Cys
NM_001164318.1:c.482T>G	NP_001157790.1:p.Phe161Cys
NM_001164319.1:c.482T>G	NP_001157791.1:p.Phe161Cys
NM_001457.3:c.482T>G	NP_001448.2:p.Phe161Cys
XM_005264977.1:c.482T>G	XP_005265034.1:p.Phe161Cys
XM_005264978.1:c.482T>G	XP_005265035.1:p.Phe161Cys
XM_005264981.1:c.482T>G	XP_005265038.1:p.Phe161Cys
XR_940396.1:n.627T>G
XM_005264978.2:c.482T>G	XP_005265035.1:p.Phe161Cys
XR_001740065.1:n.627T>G
XR_940396.2:n.627T>G
NM_001164317.2:c.482T>G	NP_001157789.1:p.Phe161Cys
NM_001164318.2:c.482T>G	NP_001157790.1:p.Phe161Cys
NM_001164319.2:c.482T>G	NP_001157791.1:p.Phe161Cys
NM_001457.4:c.482T>G MANE Select	NP_001448.2:p.Phe161Cys