Canonical Allele Identifier: CA353352134
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs1460056215
gnomAD v3: 3-58136079-G-A
gnomAD v4: 3-58136079-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136079G>A , CM000665.2:g.58136079G>A GRCh38
NC_000003.11:g.58121806G>A , CM000665.1:g.58121806G>A GRCh37
NC_000003.10:g.58096846G>A NCBI36
NG_012801.1:g.132680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.196G>A
ENST00000682868.1:n.6814G>A
ENST00000682871.1:c.4865G>A ENSP00000507805.1:p.Gly1622Glu
ENST00000684506.1:c.*3397G>A ENSP00000507728.1:n.*3397G>A
ENST00000684607.1:c.4865G>A ENSP00000508224.1:p.Gly1622Glu
ENST00000295956.9:c.4772G>A MANE Select ENSP00000295956.5:p.Gly1591Glu
ENST00000295956.8:c.4772G>A ENSP00000295956.4:p.Gly1591Glu
ENST00000358537.7:c.4772G>A ENSP00000351339.3:p.Gly1591Glu
ENST00000429972.6:c.4772G>A ENSP00000415599.2:p.Gly1591Glu
ENST00000481470.5:n.1112G>A
ENST00000490882.5:c.4865G>A ENSP00000420213.1:p.Gly1622Glu
ENST00000493452.5:c.4265G>A ENSP00000418510.1:p.Gly1422Glu
NM_001164317.1:c.4865G>A NP_001157789.1:p.Gly1622Glu
NM_001164318.1:c.4772G>A NP_001157790.1:p.Gly1591Glu
NM_001164319.1:c.4772G>A NP_001157791.1:p.Gly1591Glu
NM_001457.3:c.4772G>A NP_001448.2:p.Gly1591Glu
XM_005264977.1:c.4865G>A XP_005265034.1:p.Gly1622Glu
XM_005264978.1:c.4865G>A XP_005265035.1:p.Gly1622Glu
XM_005264981.1:c.4865G>A XP_005265038.1:p.Gly1622Glu
XR_940396.1:n.5010G>A
XM_005264978.2:c.4865G>A XP_005265035.1:p.Gly1622Glu
XR_001740065.1:n.5010G>A
XR_940396.2:n.5010G>A
NM_001164317.2:c.4865G>A NP_001157789.1:p.Gly1622Glu
NM_001164318.2:c.4772G>A NP_001157790.1:p.Gly1591Glu
NM_001164319.2:c.4772G>A NP_001157791.1:p.Gly1591Glu
NM_001457.4:c.4772G>A MANE Select NP_001448.2:p.Gly1591Glu