Canonical Allele Identifier: CA415193803
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352846C>G , CM000685.2:g.154352846C>G GRCh38
NC_000023.10:g.153581214C>G , CM000685.1:g.153581214C>G GRCh37
NC_000023.9:g.153234408C>G NCBI36
NG_011506.1:g.26793G>C
NG_011506.2:g.26793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6281G>C ENSP00000353467.4:p.Cys2094Ser
ENST00000369850.10:c.6305G>C MANE Select ENSP00000358866.3:p.Cys2102Ser
ENST00000369856.8:c.6224G>C ENSP00000358872.4:p.Cys2075Ser
ENST00000422373.6:c.3161-171G>C ENSP00000416926.2:n.3161-171G>C
ENST00000610817.5:c.6362G>C ENSP00000480593.2:n.6362G>C
ENST00000673639.2:c.280-4156G>C
ENST00000676696.1:c.6584G>C ENSP00000503392.1:n.6584G>C
ENST00000678304.1:n.1484G>C
ENST00000344736.8:c.6185G>C ENSP00000358863.3:p.Cys2062Ser
ENST00000360319.8:c.6281G>C ENSP00000353467.4:p.Cys2094Ser
ENST00000369850.7:c.6305G>C ENSP00000358866.3:p.Cys2102Ser
ENST00000369856.7:c.6224G>C ENSP00000358872.4:p.Cys2075Ser
ENST00000415241.1:c.507G>C
ENST00000420627.5:c.6261G>C ENSP00000408921.1:n.6261G>C
ENST00000422373.5:c.6281G>C ENSP00000416926.1:p.Cys2094Ser
ENST00000444578.1:c.248G>C ENSP00000397824.1:p.Cys83Ser
ENST00000466325.1:n.520G>C
ENST00000490936.5:n.2294G>C
ENST00000498411.1:n.38G>C
ENST00000610817.4:c.5844+547G>C ENSP00000480593.1:n.5844+547G>C
NM_001110556.1:c.6305G>C NP_001104026.1:p.Cys2102Ser
NM_001456.3:c.6281G>C NP_001447.2:p.Cys2094Ser
XM_011531127.1:c.6209G>C XP_011529429.1:p.Cys2070Ser
XM_011531128.1:c.6185G>C XP_011529430.1:p.Cys2062Ser
XM_011531129.1:c.6131G>C XP_011529431.1:p.Cys2044Ser
XM_011531130.1:c.6107G>C XP_011529432.1:p.Cys2036Ser
XM_011531131.1:c.6104G>C XP_011529433.1:p.Cys2035Ser
NM_001110556.2:c.6305G>C MANE Select NP_001104026.1:p.Cys2102Ser
NM_001456.4:c.6281G>C NP_001447.2:p.Cys2094Ser