Canonical Allele Identifier: CA130017

Gene: FLNB

Linked Data

• ClinVar Variation Id: 6399
• ClinVar RCV Id: RCV000030661
• dbSNP Id: rs80356513
• MyVariant Identifiers: chr3:g.58121790G>A (hg19) ; chr3:g.58136063G>A (hg38)
• PubMed: PMID:14991055 ; PMID:20301736

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58136063G>A , CM000665.2:g.58136063G>A	GRCh38
NC_000003.11:g.58121790G>A , CM000665.1:g.58121790G>A	GRCh37
NC_000003.10:g.58096830G>A	NCBI36
NG_012801.1:g.132664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.180G>A
ENST00000682868.1:n.6798G>A
ENST00000682871.1:c.4849G>A	ENSP00000507805.1:p.Gly1617Arg
ENST00000684506.1:c.*3381G>A	ENSP00000507728.1:n.*3381G>A
ENST00000684607.1:c.4849G>A	ENSP00000508224.1:p.Gly1617Arg
ENST00000295956.9:c.4756G>A MANE Select	ENSP00000295956.5:p.Gly1586Arg
ENST00000295956.8:c.4756G>A	ENSP00000295956.4:p.Gly1586Arg
ENST00000358537.7:c.4756G>A	ENSP00000351339.3:p.Gly1586Arg
ENST00000429972.6:c.4756G>A	ENSP00000415599.2:p.Gly1586Arg
ENST00000481470.5:n.1096G>A
ENST00000490882.5:c.4849G>A	ENSP00000420213.1:p.Gly1617Arg
ENST00000493452.5:c.4249G>A	ENSP00000418510.1:p.Gly1417Arg
NM_001164317.1:c.4849G>A	NP_001157789.1:p.Gly1617Arg
NM_001164318.1:c.4756G>A	NP_001157790.1:p.Gly1586Arg
NM_001164319.1:c.4756G>A	NP_001157791.1:p.Gly1586Arg
NM_001457.3:c.4756G>A	NP_001448.2:p.Gly1586Arg
XM_005264977.1:c.4849G>A	XP_005265034.1:p.Gly1617Arg
XM_005264978.1:c.4849G>A	XP_005265035.1:p.Gly1617Arg
XM_005264981.1:c.4849G>A	XP_005265038.1:p.Gly1617Arg
XR_940396.1:n.4994G>A
XM_005264978.2:c.4849G>A	XP_005265035.1:p.Gly1617Arg
XR_001740065.1:n.4994G>A
XR_940396.2:n.4994G>A
NM_001164317.2:c.4849G>A	NP_001157789.1:p.Gly1617Arg
NM_001164318.2:c.4756G>A	NP_001157790.1:p.Gly1586Arg
NM_001164319.2:c.4756G>A	NP_001157791.1:p.Gly1586Arg
NM_001457.4:c.4756G>A MANE Select	NP_001448.2:p.Gly1586Arg