Canonical Allele Identifier: CA253863

Gene: FLNB

Linked Data

• ClinVar Variation Id: 6408
• ClinVar RCV Id: RCV000006777
• dbSNP Id: rs121908898
• ExAC: 3:58131770 G / T
• gnomAD v2: 3-58131770-G-T
• gnomAD v4: 3-58146043-G-T
• MyVariant Identifiers: chr3:g.58131770G>T (hg19) ; chr3:g.58146043G>T (hg38)
• PubMed: PMID:18386804

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58146043G>T , CM000665.2:g.58146043G>T	GRCh38
NC_000003.11:g.58131770G>T , CM000665.1:g.58131770G>T	GRCh37
NC_000003.10:g.58106810G>T	NCBI36
NG_012801.1:g.142644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.900G>T
ENST00000682871.1:c.5428G>T	ENSP00000507805.1:p.Gly1810Ter
ENST00000683925.1:n.1646G>T
ENST00000684439.1:n.1859G>T
ENST00000684506.1:c.*4101G>T	ENSP00000507728.1:n.*4101G>T
ENST00000684607.1:c.5569G>T	ENSP00000508224.1:p.Gly1857Ter
ENST00000295956.9:c.5548G>T MANE Select	ENSP00000295956.5:p.Gly1850Ter
ENST00000295956.8:c.5548G>T	ENSP00000295956.4:p.Gly1850Ter
ENST00000358537.7:c.5476G>T	ENSP00000351339.3:p.Gly1826Ter
ENST00000429972.6:c.5515G>T	ENSP00000415599.2:p.Gly1839Ter
ENST00000481470.5:n.1816G>T
ENST00000490882.5:c.5641G>T	ENSP00000420213.1:p.Gly1881Ter
ENST00000493452.5:c.4969G>T	ENSP00000418510.1:p.Gly1657Ter
NM_001164317.1:c.5641G>T	NP_001157789.1:p.Gly1881Ter
NM_001164318.1:c.5515G>T	NP_001157790.1:p.Gly1839Ter
NM_001164319.1:c.5476G>T	NP_001157791.1:p.Gly1826Ter
NM_001457.3:c.5548G>T	NP_001448.2:p.Gly1850Ter
XM_005264977.1:c.5608G>T	XP_005265034.1:p.Gly1870Ter
XM_005264978.1:c.5569G>T	XP_005265035.1:p.Gly1857Ter
XM_005264981.1:c.5641G>T	XP_005265038.1:p.Gly1881Ter
XR_940396.1:n.5786G>T
XM_005264978.2:c.5569G>T	XP_005265035.1:p.Gly1857Ter
XR_001740065.1:n.5786G>T
XR_940396.2:n.5786G>T
NM_001164317.2:c.5641G>T	NP_001157789.1:p.Gly1881Ter
NM_001164318.2:c.5515G>T	NP_001157790.1:p.Gly1839Ter
NM_001164319.2:c.5476G>T	NP_001157791.1:p.Gly1826Ter
NM_001457.4:c.5548G>T MANE Select	NP_001448.2:p.Gly1850Ter