Canonical Allele Identifier: CA15253424

Gene: FLNB

Linked Data

• ClinVar Variation Id: 1228972
• ClinVar RCV Id: RCV001616603
• dbSNP Id: rs2708317
• gnomAD v2: 3-58094519-G-A
• gnomAD v3: 3-58108792-G-A
• gnomAD v4: 3-58108792-G-A
• MyVariant Identifiers: chr3:g.58094519G>A (hg19) ; chr3:g.58108792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58108792G>A , CM000665.2:g.58108792G>A	GRCh38
NC_000003.11:g.58094519G>A , CM000665.1:g.58094519G>A	GRCh37
NC_000003.10:g.58069559G>A	NCBI36
NG_012801.1:g.105393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682868.1:n.2198+221G>A
ENST00000682871.1:c.2055+221G>A	ENSP00000507805.1:n.2055+221G>A
ENST00000684107.1:c.*587+221G>A	ENSP00000507440.1:n.*587+221G>A
ENST00000684506.1:c.*587+221G>A	ENSP00000507728.1:n.*587+221G>A
ENST00000684517.1:c.*587+221G>A	ENSP00000507828.1:n.*587+221G>A
ENST00000684607.1:c.2055+221G>A	ENSP00000508224.1:n.2055+221G>A
ENST00000295956.9:c.2055+221G>A MANE Select	ENSP00000295956.5:n.2055+221G>A
ENST00000295956.8:c.2055+221G>A	ENSP00000295956.4:n.2055+221G>A
ENST00000358537.7:c.2055+221G>A	ENSP00000351339.3:n.2055+221G>A
ENST00000429972.6:c.2055+221G>A	ENSP00000415599.2:n.2055+221G>A
ENST00000490882.5:c.2055+221G>A	ENSP00000420213.1:n.2055+221G>A
ENST00000493452.5:c.1548+221G>A	ENSP00000418510.1:n.1548+221G>A
NM_001164317.1:c.2055+221G>A	NP_001157789.1:n.2055+221G>A
NM_001164318.1:c.2055+221G>A	NP_001157790.1:n.2055+221G>A
NM_001164319.1:c.2055+221G>A	NP_001157791.1:n.2055+221G>A
NM_001457.3:c.2055+221G>A	NP_001448.2:n.2055+221G>A
XM_005264977.1:c.2055+221G>A	XP_005265034.1:n.2055+221G>A
XM_005264978.1:c.2055+221G>A	XP_005265035.1:n.2055+221G>A
XM_005264981.1:c.2055+221G>A	XP_005265038.1:n.2055+221G>A
XR_940396.1:n.2200+221G>A
XM_005264978.2:c.2055+221G>A	XP_005265035.1:n.2055+221G>A
XR_001740065.1:n.2200+221G>A
XR_940396.2:n.2200+221G>A
NM_001164317.2:c.2055+221G>A	NP_001157789.1:n.2055+221G>A
NM_001164318.2:c.2055+221G>A	NP_001157790.1:n.2055+221G>A
NM_001164319.2:c.2055+221G>A	NP_001157791.1:n.2055+221G>A
NM_001457.4:c.2055+221G>A MANE Select	NP_001448.2:n.2055+221G>A