Canonical Allele Identifier: CA415193954
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352858T>G , CM000685.2:g.154352858T>G GRCh38
NC_000023.10:g.153581226T>G , CM000685.1:g.153581226T>G GRCh37
NC_000023.9:g.153234420T>G NCBI36
NG_011506.1:g.26781A>C
NG_011506.2:g.26781A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6269A>C ENSP00000353467.4:p.Glu2090Ala
ENST00000369850.10:c.6293A>C MANE Select ENSP00000358866.3:p.Glu2098Ala
ENST00000369856.8:c.6212A>C ENSP00000358872.4:p.Glu2071Ala
ENST00000422373.6:c.3161-183A>C ENSP00000416926.2:n.3161-183A>C
ENST00000610817.5:c.6350A>C ENSP00000480593.2:n.6350A>C
ENST00000673639.2:c.280-4168A>C
ENST00000676696.1:c.6572A>C ENSP00000503392.1:n.6572A>C
ENST00000678304.1:n.1472A>C
ENST00000344736.8:c.6173A>C ENSP00000358863.3:p.Glu2058Ala
ENST00000360319.8:c.6269A>C ENSP00000353467.4:p.Glu2090Ala
ENST00000369850.7:c.6293A>C ENSP00000358866.3:p.Glu2098Ala
ENST00000369856.7:c.6212A>C ENSP00000358872.4:p.Glu2071Ala
ENST00000415241.1:c.495A>C
ENST00000420627.5:c.6249A>C ENSP00000408921.1:n.6249A>C
ENST00000422373.5:c.6269A>C ENSP00000416926.1:p.Glu2090Ala
ENST00000444578.1:c.236A>C ENSP00000397824.1:p.Glu79Ala
ENST00000466325.1:n.508A>C
ENST00000490936.5:n.2282A>C
ENST00000498411.1:n.26A>C
ENST00000610817.4:c.5844+535A>C ENSP00000480593.1:n.5844+535A>C
NM_001110556.1:c.6293A>C NP_001104026.1:p.Glu2098Ala
NM_001456.3:c.6269A>C NP_001447.2:p.Glu2090Ala
XM_011531127.1:c.6197A>C XP_011529429.1:p.Glu2066Ala
XM_011531128.1:c.6173A>C XP_011529430.1:p.Glu2058Ala
XM_011531129.1:c.6119A>C XP_011529431.1:p.Glu2040Ala
XM_011531130.1:c.6095A>C XP_011529432.1:p.Glu2032Ala
XM_011531131.1:c.6092A>C XP_011529433.1:p.Glu2031Ala
NM_001110556.2:c.6293A>C MANE Select NP_001104026.1:p.Glu2098Ala
NM_001456.4:c.6269A>C NP_001447.2:p.Glu2090Ala