Canonical Allele Identifier: CA353343418
Gene: FLNB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58109633G>A , CM000665.2:g.58109633G>A GRCh38
NC_000003.11:g.58095360G>A , CM000665.1:g.58095360G>A GRCh37
NC_000003.10:g.58070400G>A NCBI36
NG_012801.1:g.106234G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682868.1:n.2400G>A
ENST00000682871.1:c.2257G>A ENSP00000507805.1:p.Glu753Lys
ENST00000684107.1:c.*789G>A ENSP00000507440.1:n.*789G>A
ENST00000684506.1:c.*789G>A ENSP00000507728.1:n.*789G>A
ENST00000684517.1:c.*789G>A ENSP00000507828.1:n.*789G>A
ENST00000684607.1:c.2257G>A ENSP00000508224.1:p.Glu753Lys
ENST00000295956.9:c.2257G>A MANE Select ENSP00000295956.5:p.Glu753Lys
ENST00000295956.8:c.2257G>A ENSP00000295956.4:p.Glu753Lys
ENST00000358537.7:c.2257G>A ENSP00000351339.3:p.Glu753Lys
ENST00000429972.6:c.2257G>A ENSP00000415599.2:p.Glu753Lys
ENST00000490882.5:c.2257G>A ENSP00000420213.1:p.Glu753Lys
ENST00000493452.5:c.1750G>A ENSP00000418510.1:p.Glu584Lys
NM_001164317.1:c.2257G>A NP_001157789.1:p.Glu753Lys
NM_001164318.1:c.2257G>A NP_001157790.1:p.Glu753Lys
NM_001164319.1:c.2257G>A NP_001157791.1:p.Glu753Lys
NM_001457.3:c.2257G>A NP_001448.2:p.Glu753Lys
XM_005264977.1:c.2257G>A XP_005265034.1:p.Glu753Lys
XM_005264978.1:c.2257G>A XP_005265035.1:p.Glu753Lys
XM_005264981.1:c.2257G>A XP_005265038.1:p.Glu753Lys
XR_940396.1:n.2402G>A
XM_005264978.2:c.2257G>A XP_005265035.1:p.Glu753Lys
XR_001740065.1:n.2402G>A
XR_940396.2:n.2402G>A
NM_001164317.2:c.2257G>A NP_001157789.1:p.Glu753Lys
NM_001164318.2:c.2257G>A NP_001157790.1:p.Glu753Lys
NM_001164319.2:c.2257G>A NP_001157791.1:p.Glu753Lys
NM_001457.4:c.2257G>A MANE Select NP_001448.2:p.Glu753Lys