Canonical Allele Identifier: CA415193513
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352822T>G , CM000685.2:g.154352822T>G GRCh38
NC_000023.10:g.153581190T>G , CM000685.1:g.153581190T>G GRCh37
NC_000023.9:g.153234384T>G NCBI36
NG_011506.1:g.26817A>C
NG_011506.2:g.26817A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6305A>C ENSP00000353467.4:p.Glu2102Ala
ENST00000369850.10:c.6329A>C MANE Select ENSP00000358866.3:p.Glu2110Ala
ENST00000369856.8:c.6248A>C ENSP00000358872.4:p.Glu2083Ala
ENST00000422373.6:c.3161-147A>C ENSP00000416926.2:n.3161-147A>C
ENST00000610817.5:c.6386A>C ENSP00000480593.2:n.6386A>C
ENST00000673639.2:c.280-4132A>C
ENST00000676696.1:c.6608A>C ENSP00000503392.1:n.6608A>C
ENST00000678304.1:n.1508A>C
ENST00000344736.8:c.6209A>C ENSP00000358863.3:p.Glu2070Ala
ENST00000360319.8:c.6305A>C ENSP00000353467.4:p.Glu2102Ala
ENST00000369850.7:c.6329A>C ENSP00000358866.3:p.Glu2110Ala
ENST00000369856.7:c.6248A>C ENSP00000358872.4:p.Glu2083Ala
ENST00000415241.1:c.531A>C
ENST00000420627.5:c.6285A>C ENSP00000408921.1:n.6285A>C
ENST00000422373.5:c.6305A>C ENSP00000416926.1:p.Glu2102Ala
ENST00000444578.1:c.272A>C ENSP00000397824.1:p.Glu91Ala
ENST00000466325.1:n.544A>C
ENST00000490936.5:n.2318A>C
ENST00000498411.1:n.62A>C
ENST00000610817.4:c.5844+571A>C ENSP00000480593.1:n.5844+571A>C
NM_001110556.1:c.6329A>C NP_001104026.1:p.Glu2110Ala
NM_001456.3:c.6305A>C NP_001447.2:p.Glu2102Ala
XM_011531127.1:c.6233A>C XP_011529429.1:p.Glu2078Ala
XM_011531128.1:c.6209A>C XP_011529430.1:p.Glu2070Ala
XM_011531129.1:c.6155A>C XP_011529431.1:p.Glu2052Ala
XM_011531130.1:c.6131A>C XP_011529432.1:p.Glu2044Ala
XM_011531131.1:c.6128A>C XP_011529433.1:p.Glu2043Ala
NM_001110556.2:c.6329A>C MANE Select NP_001104026.1:p.Glu2110Ala
NM_001456.4:c.6305A>C NP_001447.2:p.Glu2102Ala