Canonical Allele Identifier: CA415192298
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352624A>G , CM000685.2:g.154352624A>G GRCh38
NC_000023.10:g.153580992A>G , CM000685.1:g.153580992A>G GRCh37
NC_000023.9:g.153234186A>G NCBI36
NG_011506.1:g.27015T>C
NG_011506.2:g.27015T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6407T>C ENSP00000353467.4:p.Ile2136Thr
ENST00000369850.10:c.6431T>C MANE Select ENSP00000358866.3:p.Ile2144Thr
ENST00000369856.8:c.6350T>C ENSP00000358872.4:p.Ile2117Thr
ENST00000422373.6:c.3212T>C ENSP00000416926.2:p.Ile1071Thr
ENST00000610817.5:c.6488T>C ENSP00000480593.2:n.6488T>C
ENST00000673639.2:c.280-3934T>C
ENST00000676696.1:c.6710T>C ENSP00000503392.1:n.6710T>C
ENST00000678304.1:n.1610T>C
ENST00000344736.8:c.6311T>C ENSP00000358863.3:p.Ile2104Thr
ENST00000360319.8:c.6407T>C ENSP00000353467.4:p.Ile2136Thr
ENST00000369850.7:c.6431T>C ENSP00000358866.3:p.Ile2144Thr
ENST00000369856.7:c.6350T>C ENSP00000358872.4:p.Ile2117Thr
ENST00000415241.1:c.633T>C
ENST00000420627.5:c.6387T>C ENSP00000408921.1:n.6387T>C
ENST00000422373.5:c.6407T>C ENSP00000416926.1:p.Ile2136Thr
ENST00000444578.1:c.322+148T>C ENSP00000397824.1:n.322+148T>C
ENST00000466325.1:n.742T>C
ENST00000474358.5:n.64T>C
ENST00000490936.5:n.2420T>C
ENST00000498411.1:n.67+193T>C
ENST00000610817.4:c.5845-674T>C ENSP00000480593.1:n.5845-674T>C
NM_001110556.1:c.6431T>C NP_001104026.1:p.Ile2144Thr
NM_001456.3:c.6407T>C NP_001447.2:p.Ile2136Thr
XM_011531127.1:c.6335T>C XP_011529429.1:p.Ile2112Thr
XM_011531128.1:c.6311T>C XP_011529430.1:p.Ile2104Thr
XM_011531129.1:c.6257T>C XP_011529431.1:p.Ile2086Thr
XM_011531130.1:c.6233T>C XP_011529432.1:p.Ile2078Thr
XM_011531131.1:c.6230T>C XP_011529433.1:p.Ile2077Thr
NM_001110556.2:c.6431T>C MANE Select NP_001104026.1:p.Ile2144Thr
NM_001456.4:c.6407T>C NP_001447.2:p.Ile2136Thr