Canonical Allele Identifier: CA353342463
Gene: FLNB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58108565T>A , CM000665.2:g.58108565T>A GRCh38
NC_000003.11:g.58094292T>A , CM000665.1:g.58094292T>A GRCh37
NC_000003.10:g.58069332T>A NCBI36
NG_012801.1:g.105166T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682868.1:n.2192T>A
ENST00000682871.1:c.2049T>A ENSP00000507805.1:p.Phe683Leu
ENST00000684107.1:c.*581T>A ENSP00000507440.1:n.*581T>A
ENST00000684506.1:c.*581T>A ENSP00000507728.1:n.*581T>A
ENST00000684517.1:c.*581T>A ENSP00000507828.1:n.*581T>A
ENST00000684607.1:c.2049T>A ENSP00000508224.1:p.Phe683Leu
ENST00000295956.9:c.2049T>A MANE Select ENSP00000295956.5:p.Phe683Leu
ENST00000295956.8:c.2049T>A ENSP00000295956.4:p.Phe683Leu
ENST00000358537.7:c.2049T>A ENSP00000351339.3:p.Phe683Leu
ENST00000429972.6:c.2049T>A ENSP00000415599.2:p.Phe683Leu
ENST00000490882.5:c.2049T>A ENSP00000420213.1:p.Phe683Leu
ENST00000493452.5:c.1542T>A ENSP00000418510.1:p.Phe514Leu
NM_001164317.1:c.2049T>A NP_001157789.1:p.Phe683Leu
NM_001164318.1:c.2049T>A NP_001157790.1:p.Phe683Leu
NM_001164319.1:c.2049T>A NP_001157791.1:p.Phe683Leu
NM_001457.3:c.2049T>A NP_001448.2:p.Phe683Leu
XM_005264977.1:c.2049T>A XP_005265034.1:p.Phe683Leu
XM_005264978.1:c.2049T>A XP_005265035.1:p.Phe683Leu
XM_005264981.1:c.2049T>A XP_005265038.1:p.Phe683Leu
XR_940396.1:n.2194T>A
XM_005264978.2:c.2049T>A XP_005265035.1:p.Phe683Leu
XR_001740065.1:n.2194T>A
XR_940396.2:n.2194T>A
NM_001164317.2:c.2049T>A NP_001157789.1:p.Phe683Leu
NM_001164318.2:c.2049T>A NP_001157790.1:p.Phe683Leu
NM_001164319.2:c.2049T>A NP_001157791.1:p.Phe683Leu
NM_001457.4:c.2049T>A MANE Select NP_001448.2:p.Phe683Leu