Canonical Allele Identifier: CA2467989
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs778125549
gnomAD v2: 3-58094224-A-G
gnomAD v4: 3-58108497-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58108497A>G , CM000665.2:g.58108497A>G GRCh38
NC_000003.11:g.58094224A>G , CM000665.1:g.58094224A>G GRCh37
NC_000003.10:g.58069264A>G NCBI36
NG_012801.1:g.105098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682868.1:n.2124A>G
ENST00000682871.1:c.1981A>G ENSP00000507805.1:p.Ile661Val
ENST00000684107.1:c.*513A>G ENSP00000507440.1:n.*513A>G
ENST00000684506.1:c.*513A>G ENSP00000507728.1:n.*513A>G
ENST00000684517.1:c.*513A>G ENSP00000507828.1:n.*513A>G
ENST00000684607.1:c.1981A>G ENSP00000508224.1:p.Ile661Val
ENST00000295956.9:c.1981A>G MANE Select ENSP00000295956.5:p.Ile661Val
ENST00000295956.8:c.1981A>G ENSP00000295956.4:p.Ile661Val
ENST00000358537.7:c.1981A>G ENSP00000351339.3:p.Ile661Val
ENST00000429972.6:c.1981A>G ENSP00000415599.2:p.Ile661Val
ENST00000490882.5:c.1981A>G ENSP00000420213.1:p.Ile661Val
ENST00000493452.5:c.1474A>G ENSP00000418510.1:p.Ile492Val
NM_001164317.1:c.1981A>G NP_001157789.1:p.Ile661Val
NM_001164318.1:c.1981A>G NP_001157790.1:p.Ile661Val
NM_001164319.1:c.1981A>G NP_001157791.1:p.Ile661Val
NM_001457.3:c.1981A>G NP_001448.2:p.Ile661Val
XM_005264977.1:c.1981A>G XP_005265034.1:p.Ile661Val
XM_005264978.1:c.1981A>G XP_005265035.1:p.Ile661Val
XM_005264981.1:c.1981A>G XP_005265038.1:p.Ile661Val
XR_940396.1:n.2126A>G
XM_005264978.2:c.1981A>G XP_005265035.1:p.Ile661Val
XR_001740065.1:n.2126A>G
XR_940396.2:n.2126A>G
NM_001164317.2:c.1981A>G NP_001157789.1:p.Ile661Val
NM_001164318.2:c.1981A>G NP_001157790.1:p.Ile661Val
NM_001164319.2:c.1981A>G NP_001157791.1:p.Ile661Val
NM_001457.4:c.1981A>G MANE Select NP_001448.2:p.Ile661Val