Canonical Allele Identifier: CA353352242
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs2097315485
gnomAD v3: 3-58136136-A-C
gnomAD v4: 3-58136136-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136136A>C , CM000665.2:g.58136136A>C GRCh38
NC_000003.11:g.58121863A>C , CM000665.1:g.58121863A>C GRCh37
NC_000003.10:g.58096903A>C NCBI36
NG_012801.1:g.132737A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.253A>C
ENST00000682868.1:n.6871A>C
ENST00000682871.1:c.4922A>C ENSP00000507805.1:p.Gln1641Pro
ENST00000684506.1:c.*3454A>C ENSP00000507728.1:n.*3454A>C
ENST00000684607.1:c.4922A>C ENSP00000508224.1:p.Gln1641Pro
ENST00000295956.9:c.4829A>C MANE Select ENSP00000295956.5:p.Gln1610Pro
ENST00000295956.8:c.4829A>C ENSP00000295956.4:p.Gln1610Pro
ENST00000358537.7:c.4829A>C ENSP00000351339.3:p.Gln1610Pro
ENST00000429972.6:c.4829A>C ENSP00000415599.2:p.Gln1610Pro
ENST00000481470.5:n.1169A>C
ENST00000490882.5:c.4922A>C ENSP00000420213.1:p.Gln1641Pro
ENST00000493452.5:c.4322A>C ENSP00000418510.1:p.Gln1441Pro
NM_001164317.1:c.4922A>C NP_001157789.1:p.Gln1641Pro
NM_001164318.1:c.4829A>C NP_001157790.1:p.Gln1610Pro
NM_001164319.1:c.4829A>C NP_001157791.1:p.Gln1610Pro
NM_001457.3:c.4829A>C NP_001448.2:p.Gln1610Pro
XM_005264977.1:c.4922A>C XP_005265034.1:p.Gln1641Pro
XM_005264978.1:c.4922A>C XP_005265035.1:p.Gln1641Pro
XM_005264981.1:c.4922A>C XP_005265038.1:p.Gln1641Pro
XR_940396.1:n.5067A>C
XM_005264978.2:c.4922A>C XP_005265035.1:p.Gln1641Pro
XR_001740065.1:n.5067A>C
XR_940396.2:n.5067A>C
NM_001164317.2:c.4922A>C NP_001157789.1:p.Gln1641Pro
NM_001164318.2:c.4829A>C NP_001157790.1:p.Gln1610Pro
NM_001164319.2:c.4829A>C NP_001157791.1:p.Gln1610Pro
NM_001457.4:c.4829A>C MANE Select NP_001448.2:p.Gln1610Pro