Canonical Allele Identifier: CA2468881
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs758789734
gnomAD v2: 3-58121915-A-G
gnomAD v4: 3-58136188-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136188A>G , CM000665.2:g.58136188A>G GRCh38
NC_000003.11:g.58121915A>G , CM000665.1:g.58121915A>G GRCh37
NC_000003.10:g.58096955A>G NCBI36
NG_012801.1:g.132789A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.285+20A>G
ENST00000682868.1:n.6903+20A>G
ENST00000682871.1:c.4954+20A>G ENSP00000507805.1:n.4954+20A>G
ENST00000684506.1:c.*3486+20A>G ENSP00000507728.1:n.*3486+20A>G
ENST00000684607.1:c.4954+20A>G ENSP00000508224.1:n.4954+20A>G
ENST00000295956.9:c.4861+20A>G MANE Select ENSP00000295956.5:n.4861+20A>G
ENST00000295956.8:c.4861+20A>G ENSP00000295956.4:n.4861+20A>G
ENST00000358537.7:c.4861+20A>G ENSP00000351339.3:n.4861+20A>G
ENST00000429972.6:c.4861+20A>G ENSP00000415599.2:n.4861+20A>G
ENST00000481470.5:n.1201+20A>G
ENST00000490882.5:c.4954+20A>G ENSP00000420213.1:n.4954+20A>G
ENST00000493452.5:c.4354+20A>G ENSP00000418510.1:n.4354+20A>G
NM_001164317.1:c.4954+20A>G NP_001157789.1:n.4954+20A>G
NM_001164318.1:c.4861+20A>G NP_001157790.1:n.4861+20A>G
NM_001164319.1:c.4861+20A>G NP_001157791.1:n.4861+20A>G
NM_001457.3:c.4861+20A>G NP_001448.2:n.4861+20A>G
XM_005264977.1:c.4954+20A>G XP_005265034.1:n.4954+20A>G
XM_005264978.1:c.4954+20A>G XP_005265035.1:n.4954+20A>G
XM_005264981.1:c.4954+20A>G XP_005265038.1:n.4954+20A>G
XR_940396.1:n.5099+20A>G
XM_005264978.2:c.4954+20A>G XP_005265035.1:n.4954+20A>G
XR_001740065.1:n.5099+20A>G
XR_940396.2:n.5099+20A>G
NM_001164317.2:c.4954+20A>G NP_001157789.1:n.4954+20A>G
NM_001164318.2:c.4861+20A>G NP_001157790.1:n.4861+20A>G
NM_001164319.2:c.4861+20A>G NP_001157791.1:n.4861+20A>G
NM_001457.4:c.4861+20A>G MANE Select NP_001448.2:n.4861+20A>G