Canonical Allele Identifier: CA415195345
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353037C>T , CM000685.2:g.154353037C>T GRCh38
NC_000023.10:g.153581405C>T , CM000685.1:g.153581405C>T GRCh37
NC_000023.9:g.153234599C>T NCBI36
NG_011506.1:g.26602G>A
NG_011506.2:g.26602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6166G>A ENSP00000353467.4:p.Glu2056Lys
ENST00000369850.10:c.6190G>A MANE Select ENSP00000358866.3:p.Glu2064Lys
ENST00000369856.8:c.6109G>A ENSP00000358872.4:p.Glu2037Lys
ENST00000422373.6:c.3161-362G>A ENSP00000416926.2:n.3161-362G>A
ENST00000610817.5:c.6247G>A ENSP00000480593.2:n.6247G>A
ENST00000673639.2:c.280-4347G>A
ENST00000676696.1:c.6469G>A ENSP00000503392.1:n.6469G>A
ENST00000678304.1:n.1369G>A
ENST00000344736.8:c.6070G>A ENSP00000358863.3:p.Glu2024Lys
ENST00000360319.8:c.6166G>A ENSP00000353467.4:p.Glu2056Lys
ENST00000369850.7:c.6190G>A ENSP00000358866.3:p.Glu2064Lys
ENST00000369856.7:c.6109G>A ENSP00000358872.4:p.Glu2037Lys
ENST00000415241.1:c.392G>A
ENST00000420627.5:c.6146G>A ENSP00000408921.1:n.6146G>A
ENST00000422373.5:c.6166G>A ENSP00000416926.1:p.Glu2056Lys
ENST00000444578.1:c.133G>A ENSP00000397824.1:p.Glu45Lys
ENST00000466325.1:n.329G>A
ENST00000490936.5:n.2179G>A
ENST00000610817.4:c.5844+356G>A ENSP00000480593.1:n.5844+356G>A
NM_001110556.1:c.6190G>A NP_001104026.1:p.Glu2064Lys
NM_001456.3:c.6166G>A NP_001447.2:p.Glu2056Lys
XM_011531127.1:c.6094G>A XP_011529429.1:p.Glu2032Lys
XM_011531128.1:c.6070G>A XP_011529430.1:p.Glu2024Lys
XM_011531129.1:c.6016G>A XP_011529431.1:p.Glu2006Lys
XM_011531130.1:c.5992G>A XP_011529432.1:p.Glu1998Lys
XM_011531131.1:c.5989G>A XP_011529433.1:p.Glu1997Lys
NM_001110556.2:c.6190G>A MANE Select NP_001104026.1:p.Glu2064Lys
NM_001456.4:c.6166G>A NP_001447.2:p.Glu2056Lys