Canonical Allele Identifier: CA415194122
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352868C>T , CM000685.2:g.154352868C>T GRCh38
NC_000023.10:g.153581236C>T , CM000685.1:g.153581236C>T GRCh37
NC_000023.9:g.153234430C>T NCBI36
NG_011506.1:g.26771G>A
NG_011506.2:g.26771G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6259G>A ENSP00000353467.4:p.Glu2087Lys
ENST00000369850.10:c.6283G>A MANE Select ENSP00000358866.3:p.Glu2095Lys
ENST00000369856.8:c.6202G>A ENSP00000358872.4:p.Glu2068Lys
ENST00000422373.6:c.3161-193G>A ENSP00000416926.2:n.3161-193G>A
ENST00000610817.5:c.6340G>A ENSP00000480593.2:n.6340G>A
ENST00000673639.2:c.280-4178G>A
ENST00000676696.1:c.6562G>A ENSP00000503392.1:n.6562G>A
ENST00000678304.1:n.1462G>A
ENST00000344736.8:c.6163G>A ENSP00000358863.3:p.Glu2055Lys
ENST00000360319.8:c.6259G>A ENSP00000353467.4:p.Glu2087Lys
ENST00000369850.7:c.6283G>A ENSP00000358866.3:p.Glu2095Lys
ENST00000369856.7:c.6202G>A ENSP00000358872.4:p.Glu2068Lys
ENST00000415241.1:c.485G>A
ENST00000420627.5:c.6239G>A ENSP00000408921.1:n.6239G>A
ENST00000422373.5:c.6259G>A ENSP00000416926.1:p.Glu2087Lys
ENST00000444578.1:c.226G>A ENSP00000397824.1:p.Glu76Lys
ENST00000466325.1:n.498G>A
ENST00000490936.5:n.2272G>A
ENST00000498411.1:n.16G>A
ENST00000610817.4:c.5844+525G>A ENSP00000480593.1:n.5844+525G>A
NM_001110556.1:c.6283G>A NP_001104026.1:p.Glu2095Lys
NM_001456.3:c.6259G>A NP_001447.2:p.Glu2087Lys
XM_011531127.1:c.6187G>A XP_011529429.1:p.Glu2063Lys
XM_011531128.1:c.6163G>A XP_011529430.1:p.Glu2055Lys
XM_011531129.1:c.6109G>A XP_011529431.1:p.Glu2037Lys
XM_011531130.1:c.6085G>A XP_011529432.1:p.Glu2029Lys
XM_011531131.1:c.6082G>A XP_011529433.1:p.Glu2028Lys
NM_001110556.2:c.6283G>A MANE Select NP_001104026.1:p.Glu2095Lys
NM_001456.4:c.6259G>A NP_001447.2:p.Glu2087Lys