Canonical Allele Identifier: CA415192397
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352633T>A , CM000685.2:g.154352633T>A GRCh38
NC_000023.10:g.153581001T>A , CM000685.1:g.153581001T>A GRCh37
NC_000023.9:g.153234195T>A NCBI36
NG_011506.1:g.27006A>T
NG_011506.2:g.27006A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6398A>T ENSP00000353467.4:p.Lys2133Ile
ENST00000369850.10:c.6422A>T MANE Select ENSP00000358866.3:p.Lys2141Ile
ENST00000369856.8:c.6341A>T ENSP00000358872.4:p.Lys2114Ile
ENST00000422373.6:c.3203A>T ENSP00000416926.2:p.Lys1068Ile
ENST00000610817.5:c.6479A>T ENSP00000480593.2:n.6479A>T
ENST00000673639.2:c.280-3943A>T
ENST00000676696.1:c.6701A>T ENSP00000503392.1:n.6701A>T
ENST00000678304.1:n.1601A>T
ENST00000344736.8:c.6302A>T ENSP00000358863.3:p.Lys2101Ile
ENST00000360319.8:c.6398A>T ENSP00000353467.4:p.Lys2133Ile
ENST00000369850.7:c.6422A>T ENSP00000358866.3:p.Lys2141Ile
ENST00000369856.7:c.6341A>T ENSP00000358872.4:p.Lys2114Ile
ENST00000415241.1:c.624A>T
ENST00000420627.5:c.6378A>T ENSP00000408921.1:n.6378A>T
ENST00000422373.5:c.6398A>T ENSP00000416926.1:p.Lys2133Ile
ENST00000444578.1:c.322+139A>T ENSP00000397824.1:n.322+139A>T
ENST00000466325.1:n.733A>T
ENST00000474358.5:n.55A>T
ENST00000490936.5:n.2411A>T
ENST00000498411.1:n.67+184A>T
ENST00000610817.4:c.5845-683A>T ENSP00000480593.1:n.5845-683A>T
NM_001110556.1:c.6422A>T NP_001104026.1:p.Lys2141Ile
NM_001456.3:c.6398A>T NP_001447.2:p.Lys2133Ile
XM_011531127.1:c.6326A>T XP_011529429.1:p.Lys2109Ile
XM_011531128.1:c.6302A>T XP_011529430.1:p.Lys2101Ile
XM_011531129.1:c.6248A>T XP_011529431.1:p.Lys2083Ile
XM_011531130.1:c.6224A>T XP_011529432.1:p.Lys2075Ile
XM_011531131.1:c.6221A>T XP_011529433.1:p.Lys2074Ile
NM_001110556.2:c.6422A>T MANE Select NP_001104026.1:p.Lys2141Ile
NM_001456.4:c.6398A>T NP_001447.2:p.Lys2133Ile