Canonical Allele Identifier: CA415193051
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352784G>A , CM000685.2:g.154352784G>A GRCh38
NC_000023.10:g.153581152G>A , CM000685.1:g.153581152G>A GRCh37
NC_000023.9:g.153234346G>A NCBI36
NG_011506.1:g.26855C>T
NG_011506.2:g.26855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6343C>T ENSP00000353467.4:p.Gln2115Ter
ENST00000369850.10:c.6367C>T MANE Select ENSP00000358866.3:p.Gln2123Ter
ENST00000369856.8:c.6286C>T ENSP00000358872.4:p.Gln2096Ter
ENST00000422373.6:c.3161-109C>T ENSP00000416926.2:n.3161-109C>T
ENST00000610817.5:c.6424C>T ENSP00000480593.2:n.6424C>T
ENST00000673639.2:c.280-4094C>T
ENST00000676696.1:c.6646C>T ENSP00000503392.1:n.6646C>T
ENST00000678304.1:n.1546C>T
ENST00000344736.8:c.6247C>T ENSP00000358863.3:p.Gln2083Ter
ENST00000360319.8:c.6343C>T ENSP00000353467.4:p.Gln2115Ter
ENST00000369850.7:c.6367C>T ENSP00000358866.3:p.Gln2123Ter
ENST00000369856.7:c.6286C>T ENSP00000358872.4:p.Gln2096Ter
ENST00000415241.1:c.569C>T
ENST00000420627.5:c.6323C>T ENSP00000408921.1:n.6323C>T
ENST00000422373.5:c.6343C>T ENSP00000416926.1:p.Gln2115Ter
ENST00000444578.1:c.310C>T ENSP00000397824.1:p.Gln104Ter
ENST00000466325.1:n.582C>T
ENST00000490936.5:n.2356C>T
ENST00000498411.1:n.67+33C>T
ENST00000610817.4:c.5844+609C>T ENSP00000480593.1:n.5844+609C>T
NM_001110556.1:c.6367C>T NP_001104026.1:p.Gln2123Ter
NM_001456.3:c.6343C>T NP_001447.2:p.Gln2115Ter
XM_011531127.1:c.6271C>T XP_011529429.1:p.Gln2091Ter
XM_011531128.1:c.6247C>T XP_011529430.1:p.Gln2083Ter
XM_011531129.1:c.6193C>T XP_011529431.1:p.Gln2065Ter
XM_011531130.1:c.6169C>T XP_011529432.1:p.Gln2057Ter
XM_011531131.1:c.6166C>T XP_011529433.1:p.Gln2056Ter
NM_001110556.2:c.6367C>T MANE Select NP_001104026.1:p.Gln2123Ter
NM_001456.4:c.6343C>T NP_001447.2:p.Gln2115Ter