Canonical Allele Identifier: CA353352084

Gene: FLNB

Linked Data

• ClinVar Variation Id: 1312992
• ClinVar RCV Id: RCV001774446
• dbSNP Id: rs2107224656
• MyVariant Identifiers: chr3:g.58121783C>G (hg19) ; chr3:g.58136056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58136056C>G , CM000665.2:g.58136056C>G	GRCh38
NC_000003.11:g.58121783C>G , CM000665.1:g.58121783C>G	GRCh37
NC_000003.10:g.58096823C>G	NCBI36
NG_012801.1:g.132657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.173C>G
ENST00000682868.1:n.6791C>G
ENST00000682871.1:c.4842C>G	ENSP00000507805.1:p.Asp1614Glu
ENST00000684506.1:c.*3374C>G	ENSP00000507728.1:n.*3374C>G
ENST00000684607.1:c.4842C>G	ENSP00000508224.1:p.Asp1614Glu
ENST00000295956.9:c.4749C>G MANE Select	ENSP00000295956.5:p.Asp1583Glu
ENST00000295956.8:c.4749C>G	ENSP00000295956.4:p.Asp1583Glu
ENST00000358537.7:c.4749C>G	ENSP00000351339.3:p.Asp1583Glu
ENST00000429972.6:c.4749C>G	ENSP00000415599.2:p.Asp1583Glu
ENST00000481470.5:n.1089C>G
ENST00000490882.5:c.4842C>G	ENSP00000420213.1:p.Asp1614Glu
ENST00000493452.5:c.4242C>G	ENSP00000418510.1:p.Asp1414Glu
NM_001164317.1:c.4842C>G	NP_001157789.1:p.Asp1614Glu
NM_001164318.1:c.4749C>G	NP_001157790.1:p.Asp1583Glu
NM_001164319.1:c.4749C>G	NP_001157791.1:p.Asp1583Glu
NM_001457.3:c.4749C>G	NP_001448.2:p.Asp1583Glu
XM_005264977.1:c.4842C>G	XP_005265034.1:p.Asp1614Glu
XM_005264978.1:c.4842C>G	XP_005265035.1:p.Asp1614Glu
XM_005264981.1:c.4842C>G	XP_005265038.1:p.Asp1614Glu
XR_940396.1:n.4987C>G
XM_005264978.2:c.4842C>G	XP_005265035.1:p.Asp1614Glu
XR_001740065.1:n.4987C>G
XR_940396.2:n.4987C>G
NM_001164317.2:c.4842C>G	NP_001157789.1:p.Asp1614Glu
NM_001164318.2:c.4749C>G	NP_001157790.1:p.Asp1583Glu
NM_001164319.2:c.4749C>G	NP_001157791.1:p.Asp1583Glu
NM_001457.4:c.4749C>G MANE Select	NP_001448.2:p.Asp1583Glu