Canonical Allele Identifier: CA415193350
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352808T>A , CM000685.2:g.154352808T>A GRCh38
NC_000023.10:g.153581176T>A , CM000685.1:g.153581176T>A GRCh37
NC_000023.9:g.153234370T>A NCBI36
NG_011506.1:g.26831A>T
NG_011506.2:g.26831A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6319A>T ENSP00000353467.4:p.Ile2107Phe
ENST00000369850.10:c.6343A>T MANE Select ENSP00000358866.3:p.Ile2115Phe
ENST00000369856.8:c.6262A>T ENSP00000358872.4:p.Ile2088Phe
ENST00000422373.6:c.3161-133A>T ENSP00000416926.2:n.3161-133A>T
ENST00000610817.5:c.6400A>T ENSP00000480593.2:n.6400A>T
ENST00000673639.2:c.280-4118A>T
ENST00000676696.1:c.6622A>T ENSP00000503392.1:n.6622A>T
ENST00000678304.1:n.1522A>T
ENST00000344736.8:c.6223A>T ENSP00000358863.3:p.Ile2075Phe
ENST00000360319.8:c.6319A>T ENSP00000353467.4:p.Ile2107Phe
ENST00000369850.7:c.6343A>T ENSP00000358866.3:p.Ile2115Phe
ENST00000369856.7:c.6262A>T ENSP00000358872.4:p.Ile2088Phe
ENST00000415241.1:c.545A>T
ENST00000420627.5:c.6299A>T ENSP00000408921.1:n.6299A>T
ENST00000422373.5:c.6319A>T ENSP00000416926.1:p.Ile2107Phe
ENST00000444578.1:c.286A>T ENSP00000397824.1:p.Ile96Phe
ENST00000466325.1:n.558A>T
ENST00000490936.5:n.2332A>T
ENST00000498411.1:n.67+9A>T
ENST00000610817.4:c.5844+585A>T ENSP00000480593.1:n.5844+585A>T
NM_001110556.1:c.6343A>T NP_001104026.1:p.Ile2115Phe
NM_001456.3:c.6319A>T NP_001447.2:p.Ile2107Phe
XM_011531127.1:c.6247A>T XP_011529429.1:p.Ile2083Phe
XM_011531128.1:c.6223A>T XP_011529430.1:p.Ile2075Phe
XM_011531129.1:c.6169A>T XP_011529431.1:p.Ile2057Phe
XM_011531130.1:c.6145A>T XP_011529432.1:p.Ile2049Phe
XM_011531131.1:c.6142A>T XP_011529433.1:p.Ile2048Phe
NM_001110556.2:c.6343A>T MANE Select NP_001104026.1:p.Ile2115Phe
NM_001456.4:c.6319A>T NP_001447.2:p.Ile2107Phe