Canonical Allele Identifier: CA341853

Gene: FLNB

Linked Data

• ClinVar Variation Id: 38344
• ClinVar RCV Id: RCV000020452
• dbSNP Id: rs80356494
• MyVariant Identifiers: chr3:g.58062992T>A (hg19) ; chr3:g.58077265T>A (hg38)
• PubMed: PMID:20301736

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58077265T>A , CM000665.2:g.58077265T>A	GRCh38
NC_000003.11:g.58062992T>A , CM000665.1:g.58062992T>A	GRCh37
NC_000003.10:g.58038032T>A	NCBI36
NG_012801.1:g.73866T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682097.1:c.512T>A	ENSP00000508183.1:p.Leu171Gln
ENST00000682868.1:n.655T>A
ENST00000682871.1:c.512T>A	ENSP00000507805.1:p.Leu171Gln
ENST00000682987.1:n.655T>A
ENST00000683511.1:n.671T>A
ENST00000684107.1:c.512T>A	ENSP00000507440.1:p.Leu171Gln
ENST00000684506.1:c.512T>A	ENSP00000507728.1:p.Leu171Gln
ENST00000684517.1:c.512T>A	ENSP00000507828.1:p.Leu171Gln
ENST00000684607.1:c.512T>A	ENSP00000508224.1:p.Leu171Gln
ENST00000295956.9:c.512T>A MANE Select	ENSP00000295956.5:p.Leu171Gln
ENST00000295956.8:c.512T>A	ENSP00000295956.4:p.Leu171Gln
ENST00000358537.7:c.512T>A	ENSP00000351339.3:p.Leu171Gln
ENST00000429972.6:c.512T>A	ENSP00000415599.2:p.Leu171Gln
ENST00000490882.5:c.512T>A	ENSP00000420213.1:p.Leu171Gln
NM_001164317.1:c.512T>A	NP_001157789.1:p.Leu171Gln
NM_001164318.1:c.512T>A	NP_001157790.1:p.Leu171Gln
NM_001164319.1:c.512T>A	NP_001157791.1:p.Leu171Gln
NM_001457.3:c.512T>A	NP_001448.2:p.Leu171Gln
XM_005264977.1:c.512T>A	XP_005265034.1:p.Leu171Gln
XM_005264978.1:c.512T>A	XP_005265035.1:p.Leu171Gln
XM_005264981.1:c.512T>A	XP_005265038.1:p.Leu171Gln
XR_940396.1:n.657T>A
XM_005264978.2:c.512T>A	XP_005265035.1:p.Leu171Gln
XR_001740065.1:n.657T>A
XR_940396.2:n.657T>A
NM_001164317.2:c.512T>A	NP_001157789.1:p.Leu171Gln
NM_001164318.2:c.512T>A	NP_001157790.1:p.Leu171Gln
NM_001164319.2:c.512T>A	NP_001157791.1:p.Leu171Gln
NM_001457.4:c.512T>A MANE Select	NP_001448.2:p.Leu171Gln