Canonical Allele Identifier: CA353333905
Gene: FLNB HGNC NCBI

Linked Data

ClinVar Variation Id: 1463162
ClinVar RCV Id: RCV001960916
dbSNP Id: rs1209200091
gnomAD v2: 3-58064511-G-T
gnomAD v4: 3-58078784-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58078784G>T , CM000665.2:g.58078784G>T GRCh38
NC_000003.11:g.58064511G>T , CM000665.1:g.58064511G>T GRCh37
NC_000003.10:g.58039551G>T NCBI36
NG_012801.1:g.75385G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682097.1:c.609G>T ENSP00000508183.1:p.Gln203His
ENST00000682868.1:n.752G>T
ENST00000682871.1:c.609G>T ENSP00000507805.1:p.Gln203His
ENST00000682987.1:n.752G>T
ENST00000683511.1:n.768G>T
ENST00000684107.1:c.609G>T ENSP00000507440.1:p.Gln203His
ENST00000684506.1:c.609G>T ENSP00000507728.1:p.Gln203His
ENST00000684517.1:c.609G>T ENSP00000507828.1:p.Gln203His
ENST00000684607.1:c.609G>T ENSP00000508224.1:p.Gln203His
ENST00000295956.9:c.609G>T MANE Select ENSP00000295956.5:p.Gln203His
ENST00000295956.8:c.609G>T ENSP00000295956.4:p.Gln203His
ENST00000358537.7:c.609G>T ENSP00000351339.3:p.Gln203His
ENST00000429972.6:c.609G>T ENSP00000415599.2:p.Gln203His
ENST00000490882.5:c.609G>T ENSP00000420213.1:p.Gln203His
ENST00000493452.5:c.102G>T ENSP00000418510.1:p.Gln34His
NM_001164317.1:c.609G>T NP_001157789.1:p.Gln203His
NM_001164318.1:c.609G>T NP_001157790.1:p.Gln203His
NM_001164319.1:c.609G>T NP_001157791.1:p.Gln203His
NM_001457.3:c.609G>T NP_001448.2:p.Gln203His
XM_005264977.1:c.609G>T XP_005265034.1:p.Gln203His
XM_005264978.1:c.609G>T XP_005265035.1:p.Gln203His
XM_005264981.1:c.609G>T XP_005265038.1:p.Gln203His
XR_940396.1:n.754G>T
XM_005264978.2:c.609G>T XP_005265035.1:p.Gln203His
XR_001740065.1:n.754G>T
XR_940396.2:n.754G>T
NM_001164317.2:c.609G>T NP_001157789.1:p.Gln203His
NM_001164318.2:c.609G>T NP_001157790.1:p.Gln203His
NM_001164319.2:c.609G>T NP_001157791.1:p.Gln203His
NM_001457.4:c.609G>T MANE Select NP_001448.2:p.Gln203His