Canonical Allele Identifier: CA2467525
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs370470693
gnomAD v2: 3-58062919-G-T
gnomAD v3: 3-58077192-G-T
gnomAD v4: 3-58077192-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58077192G>T , CM000665.2:g.58077192G>T GRCh38
NC_000003.11:g.58062919G>T , CM000665.1:g.58062919G>T GRCh37
NC_000003.10:g.58037959G>T NCBI36
NG_012801.1:g.73793G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682097.1:c.439G>T ENSP00000508183.1:p.Gly147Trp
ENST00000682868.1:n.582G>T
ENST00000682871.1:c.439G>T ENSP00000507805.1:p.Gly147Trp
ENST00000682987.1:n.582G>T
ENST00000683511.1:n.598G>T
ENST00000684107.1:c.439G>T ENSP00000507440.1:p.Gly147Trp
ENST00000684506.1:c.439G>T ENSP00000507728.1:p.Gly147Trp
ENST00000684517.1:c.439G>T ENSP00000507828.1:p.Gly147Trp
ENST00000684607.1:c.439G>T ENSP00000508224.1:p.Gly147Trp
ENST00000295956.9:c.439G>T MANE Select ENSP00000295956.5:p.Gly147Trp
ENST00000295956.8:c.439G>T ENSP00000295956.4:p.Gly147Trp
ENST00000358537.7:c.439G>T ENSP00000351339.3:p.Gly147Trp
ENST00000429972.6:c.439G>T ENSP00000415599.2:p.Gly147Trp
ENST00000490882.5:c.439G>T ENSP00000420213.1:p.Gly147Trp
NM_001164317.1:c.439G>T NP_001157789.1:p.Gly147Trp
NM_001164318.1:c.439G>T NP_001157790.1:p.Gly147Trp
NM_001164319.1:c.439G>T NP_001157791.1:p.Gly147Trp
NM_001457.3:c.439G>T NP_001448.2:p.Gly147Trp
XM_005264977.1:c.439G>T XP_005265034.1:p.Gly147Trp
XM_005264978.1:c.439G>T XP_005265035.1:p.Gly147Trp
XM_005264981.1:c.439G>T XP_005265038.1:p.Gly147Trp
XR_940396.1:n.584G>T
XM_005264978.2:c.439G>T XP_005265035.1:p.Gly147Trp
XR_001740065.1:n.584G>T
XR_940396.2:n.584G>T
NM_001164317.2:c.439G>T NP_001157789.1:p.Gly147Trp
NM_001164318.2:c.439G>T NP_001157790.1:p.Gly147Trp
NM_001164319.2:c.439G>T NP_001157791.1:p.Gly147Trp
NM_001457.4:c.439G>T MANE Select NP_001448.2:p.Gly147Trp