Canonical Allele Identifier: CA415192589
Gene: FLNA HGNC NCBI

Linked Data

dbSNP Id: rs2148104417

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352657T>C , CM000685.2:g.154352657T>C GRCh38
NC_000023.10:g.153581025T>C , CM000685.1:g.153581025T>C GRCh37
NC_000023.9:g.153234219T>C NCBI36
NG_011506.1:g.26982A>G
NG_011506.2:g.26982A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6374A>G ENSP00000353467.4:p.Lys2125Arg
ENST00000369850.10:c.6398A>G MANE Select ENSP00000358866.3:p.Lys2133Arg
ENST00000369856.8:c.6317A>G ENSP00000358872.4:p.Lys2106Arg
ENST00000422373.6:c.3179A>G ENSP00000416926.2:p.Lys1060Arg
ENST00000610817.5:c.6455A>G ENSP00000480593.2:n.6455A>G
ENST00000673639.2:c.280-3967A>G
ENST00000676696.1:c.6677A>G ENSP00000503392.1:n.6677A>G
ENST00000678304.1:n.1577A>G
ENST00000344736.8:c.6278A>G ENSP00000358863.3:p.Lys2093Arg
ENST00000360319.8:c.6374A>G ENSP00000353467.4:p.Lys2125Arg
ENST00000369850.7:c.6398A>G ENSP00000358866.3:p.Lys2133Arg
ENST00000369856.7:c.6317A>G ENSP00000358872.4:p.Lys2106Arg
ENST00000415241.1:c.600A>G
ENST00000420627.5:c.6354A>G ENSP00000408921.1:n.6354A>G
ENST00000422373.5:c.6374A>G ENSP00000416926.1:p.Lys2125Arg
ENST00000444578.1:c.322+115A>G ENSP00000397824.1:n.322+115A>G
ENST00000466325.1:n.709A>G
ENST00000474358.5:n.31A>G
ENST00000490936.5:n.2387A>G
ENST00000498411.1:n.67+160A>G
ENST00000610817.4:c.5845-707A>G ENSP00000480593.1:n.5845-707A>G
NM_001110556.1:c.6398A>G NP_001104026.1:p.Lys2133Arg
NM_001456.3:c.6374A>G NP_001447.2:p.Lys2125Arg
XM_011531127.1:c.6302A>G XP_011529429.1:p.Lys2101Arg
XM_011531128.1:c.6278A>G XP_011529430.1:p.Lys2093Arg
XM_011531129.1:c.6224A>G XP_011529431.1:p.Lys2075Arg
XM_011531130.1:c.6200A>G XP_011529432.1:p.Lys2067Arg
XM_011531131.1:c.6197A>G XP_011529433.1:p.Lys2066Arg
NM_001110556.2:c.6398A>G MANE Select NP_001104026.1:p.Lys2133Arg
NM_001456.4:c.6374A>G NP_001447.2:p.Lys2125Arg