Canonical Allele Identifier: CA543252844

Gene: FLNB

Linked Data

• ClinVar Variation Id: 2959245
• ClinVar RCV Id: RCV003819444
• dbSNP Id: rs1423232013
• gnomAD v2: 3-58131643-C-T
• gnomAD v4: 3-58145916-C-T
• MyVariant Identifiers: chr3:g.58131643C>T (hg19) ; chr3:g.58145916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58145916C>T , CM000665.2:g.58145916C>T	GRCh38
NC_000003.11:g.58131643C>T , CM000665.1:g.58131643C>T	GRCh37
NC_000003.10:g.58106683C>T	NCBI36
NG_012801.1:g.142517C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682297.1:n.778-5C>T
ENST00000682871.1:c.5306-5C>T	ENSP00000507805.1:n.5306-5C>T
ENST00000683925.1:n.1519C>T
ENST00000684439.1:n.1737-5C>T
ENST00000684506.1:c.*3979-5C>T	ENSP00000507728.1:n.*3979-5C>T
ENST00000684607.1:c.5447-5C>T	ENSP00000508224.1:n.5447-5C>T
ENST00000295956.9:c.5426-5C>T MANE Select	ENSP00000295956.5:n.5426-5C>T
ENST00000295956.8:c.5426-5C>T	ENSP00000295956.4:n.5426-5C>T
ENST00000358537.7:c.5354-5C>T	ENSP00000351339.3:n.5354-5C>T
ENST00000429972.6:c.5393-5C>T	ENSP00000415599.2:n.5393-5C>T
ENST00000481470.5:n.1694-5C>T
ENST00000490882.5:c.5519-5C>T	ENSP00000420213.1:n.5519-5C>T
ENST00000493452.5:c.4847-5C>T	ENSP00000418510.1:n.4847-5C>T
NM_001164317.1:c.5519-5C>T	NP_001157789.1:n.5519-5C>T
NM_001164318.1:c.5393-5C>T	NP_001157790.1:n.5393-5C>T
NM_001164319.1:c.5354-5C>T	NP_001157791.1:n.5354-5C>T
NM_001457.3:c.5426-5C>T	NP_001448.2:n.5426-5C>T
XM_005264977.1:c.5486-5C>T	XP_005265034.1:n.5486-5C>T
XM_005264978.1:c.5447-5C>T	XP_005265035.1:n.5447-5C>T
XM_005264981.1:c.5519-5C>T	XP_005265038.1:n.5519-5C>T
XR_940396.1:n.5664-5C>T
XM_005264978.2:c.5447-5C>T	XP_005265035.1:n.5447-5C>T
XR_001740065.1:n.5664-5C>T
XR_940396.2:n.5664-5C>T
NM_001164317.2:c.5519-5C>T	NP_001157789.1:n.5519-5C>T
NM_001164318.2:c.5393-5C>T	NP_001157790.1:n.5393-5C>T
NM_001164319.2:c.5354-5C>T	NP_001157791.1:n.5354-5C>T
NM_001457.4:c.5426-5C>T MANE Select	NP_001448.2:n.5426-5C>T