Canonical Allele Identifier: CA415193598
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352831C>A , CM000685.2:g.154352831C>A GRCh38
NC_000023.10:g.153581199C>A , CM000685.1:g.153581199C>A GRCh37
NC_000023.9:g.153234393C>A NCBI36
NG_011506.1:g.26808G>T
NG_011506.2:g.26808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6296G>T ENSP00000353467.4:p.Cys2099Phe
ENST00000369850.10:c.6320G>T MANE Select ENSP00000358866.3:p.Cys2107Phe
ENST00000369856.8:c.6239G>T ENSP00000358872.4:p.Cys2080Phe
ENST00000422373.6:c.3161-156G>T ENSP00000416926.2:n.3161-156G>T
ENST00000610817.5:c.6377G>T ENSP00000480593.2:n.6377G>T
ENST00000673639.2:c.280-4141G>T
ENST00000676696.1:c.6599G>T ENSP00000503392.1:n.6599G>T
ENST00000678304.1:n.1499G>T
ENST00000344736.8:c.6200G>T ENSP00000358863.3:p.Cys2067Phe
ENST00000360319.8:c.6296G>T ENSP00000353467.4:p.Cys2099Phe
ENST00000369850.7:c.6320G>T ENSP00000358866.3:p.Cys2107Phe
ENST00000369856.7:c.6239G>T ENSP00000358872.4:p.Cys2080Phe
ENST00000415241.1:c.522G>T
ENST00000420627.5:c.6276G>T ENSP00000408921.1:n.6276G>T
ENST00000422373.5:c.6296G>T ENSP00000416926.1:p.Cys2099Phe
ENST00000444578.1:c.263G>T ENSP00000397824.1:p.Cys88Phe
ENST00000466325.1:n.535G>T
ENST00000490936.5:n.2309G>T
ENST00000498411.1:n.53G>T
ENST00000610817.4:c.5844+562G>T ENSP00000480593.1:n.5844+562G>T
NM_001110556.1:c.6320G>T NP_001104026.1:p.Cys2107Phe
NM_001456.3:c.6296G>T NP_001447.2:p.Cys2099Phe
XM_011531127.1:c.6224G>T XP_011529429.1:p.Cys2075Phe
XM_011531128.1:c.6200G>T XP_011529430.1:p.Cys2067Phe
XM_011531129.1:c.6146G>T XP_011529431.1:p.Cys2049Phe
XM_011531130.1:c.6122G>T XP_011529432.1:p.Cys2041Phe
XM_011531131.1:c.6119G>T XP_011529433.1:p.Cys2040Phe
NM_001110556.2:c.6320G>T MANE Select NP_001104026.1:p.Cys2107Phe
NM_001456.4:c.6296G>T NP_001447.2:p.Cys2099Phe