Canonical Allele Identifier: CA415192449
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352639C>G , CM000685.2:g.154352639C>G GRCh38
NC_000023.10:g.153581007C>G , CM000685.1:g.153581007C>G GRCh37
NC_000023.9:g.153234201C>G NCBI36
NG_011506.1:g.27000G>C
NG_011506.2:g.27000G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6392G>C ENSP00000353467.4:p.Arg2131Pro
ENST00000369850.10:c.6416G>C MANE Select ENSP00000358866.3:p.Arg2139Pro
ENST00000369856.8:c.6335G>C ENSP00000358872.4:p.Arg2112Pro
ENST00000422373.6:c.3197G>C ENSP00000416926.2:p.Arg1066Pro
ENST00000610817.5:c.6473G>C ENSP00000480593.2:n.6473G>C
ENST00000673639.2:c.280-3949G>C
ENST00000676696.1:c.6695G>C ENSP00000503392.1:n.6695G>C
ENST00000678304.1:n.1595G>C
ENST00000344736.8:c.6296G>C ENSP00000358863.3:p.Arg2099Pro
ENST00000360319.8:c.6392G>C ENSP00000353467.4:p.Arg2131Pro
ENST00000369850.7:c.6416G>C ENSP00000358866.3:p.Arg2139Pro
ENST00000369856.7:c.6335G>C ENSP00000358872.4:p.Arg2112Pro
ENST00000415241.1:c.618G>C
ENST00000420627.5:c.6372G>C ENSP00000408921.1:n.6372G>C
ENST00000422373.5:c.6392G>C ENSP00000416926.1:p.Arg2131Pro
ENST00000444578.1:c.322+133G>C ENSP00000397824.1:n.322+133G>C
ENST00000466325.1:n.727G>C
ENST00000474358.5:n.49G>C
ENST00000490936.5:n.2405G>C
ENST00000498411.1:n.67+178G>C
ENST00000610817.4:c.5845-689G>C ENSP00000480593.1:n.5845-689G>C
NM_001110556.1:c.6416G>C NP_001104026.1:p.Arg2139Pro
NM_001456.3:c.6392G>C NP_001447.2:p.Arg2131Pro
XM_011531127.1:c.6320G>C XP_011529429.1:p.Arg2107Pro
XM_011531128.1:c.6296G>C XP_011529430.1:p.Arg2099Pro
XM_011531129.1:c.6242G>C XP_011529431.1:p.Arg2081Pro
XM_011531130.1:c.6218G>C XP_011529432.1:p.Arg2073Pro
XM_011531131.1:c.6215G>C XP_011529433.1:p.Arg2072Pro
NM_001110556.2:c.6416G>C MANE Select NP_001104026.1:p.Arg2139Pro
NM_001456.4:c.6392G>C NP_001447.2:p.Arg2131Pro