Canonical Allele Identifier: CA415194081
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352867T>A , CM000685.2:g.154352867T>A GRCh38
NC_000023.10:g.153581235T>A , CM000685.1:g.153581235T>A GRCh37
NC_000023.9:g.153234429T>A NCBI36
NG_011506.1:g.26772A>T
NG_011506.2:g.26772A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6260A>T ENSP00000353467.4:p.Glu2087Val
ENST00000369850.10:c.6284A>T MANE Select ENSP00000358866.3:p.Glu2095Val
ENST00000369856.8:c.6203A>T ENSP00000358872.4:p.Glu2068Val
ENST00000422373.6:c.3161-192A>T ENSP00000416926.2:n.3161-192A>T
ENST00000610817.5:c.6341A>T ENSP00000480593.2:n.6341A>T
ENST00000673639.2:c.280-4177A>T
ENST00000676696.1:c.6563A>T ENSP00000503392.1:n.6563A>T
ENST00000678304.1:n.1463A>T
ENST00000344736.8:c.6164A>T ENSP00000358863.3:p.Glu2055Val
ENST00000360319.8:c.6260A>T ENSP00000353467.4:p.Glu2087Val
ENST00000369850.7:c.6284A>T ENSP00000358866.3:p.Glu2095Val
ENST00000369856.7:c.6203A>T ENSP00000358872.4:p.Glu2068Val
ENST00000415241.1:c.486A>T
ENST00000420627.5:c.6240A>T ENSP00000408921.1:n.6240A>T
ENST00000422373.5:c.6260A>T ENSP00000416926.1:p.Glu2087Val
ENST00000444578.1:c.227A>T ENSP00000397824.1:p.Glu76Val
ENST00000466325.1:n.499A>T
ENST00000490936.5:n.2273A>T
ENST00000498411.1:n.17A>T
ENST00000610817.4:c.5844+526A>T ENSP00000480593.1:n.5844+526A>T
NM_001110556.1:c.6284A>T NP_001104026.1:p.Glu2095Val
NM_001456.3:c.6260A>T NP_001447.2:p.Glu2087Val
XM_011531127.1:c.6188A>T XP_011529429.1:p.Glu2063Val
XM_011531128.1:c.6164A>T XP_011529430.1:p.Glu2055Val
XM_011531129.1:c.6110A>T XP_011529431.1:p.Glu2037Val
XM_011531130.1:c.6086A>T XP_011529432.1:p.Glu2029Val
XM_011531131.1:c.6083A>T XP_011529433.1:p.Glu2028Val
NM_001110556.2:c.6284A>T MANE Select NP_001104026.1:p.Glu2095Val
NM_001456.4:c.6260A>T NP_001447.2:p.Glu2087Val