Canonical Allele Identifier: CA415193211
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352798A>G , CM000685.2:g.154352798A>G GRCh38
NC_000023.10:g.153581166A>G , CM000685.1:g.153581166A>G GRCh37
NC_000023.9:g.153234360A>G NCBI36
NG_011506.1:g.26841T>C
NG_011506.2:g.26841T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6329T>C ENSP00000353467.4:p.Ile2110Thr
ENST00000369850.10:c.6353T>C MANE Select ENSP00000358866.3:p.Ile2118Thr
ENST00000369856.8:c.6272T>C ENSP00000358872.4:p.Ile2091Thr
ENST00000422373.6:c.3161-123T>C ENSP00000416926.2:n.3161-123T>C
ENST00000610817.5:c.6410T>C ENSP00000480593.2:n.6410T>C
ENST00000673639.2:c.280-4108T>C
ENST00000676696.1:c.6632T>C ENSP00000503392.1:n.6632T>C
ENST00000678304.1:n.1532T>C
ENST00000344736.8:c.6233T>C ENSP00000358863.3:p.Ile2078Thr
ENST00000360319.8:c.6329T>C ENSP00000353467.4:p.Ile2110Thr
ENST00000369850.7:c.6353T>C ENSP00000358866.3:p.Ile2118Thr
ENST00000369856.7:c.6272T>C ENSP00000358872.4:p.Ile2091Thr
ENST00000415241.1:c.555T>C
ENST00000420627.5:c.6309T>C ENSP00000408921.1:n.6309T>C
ENST00000422373.5:c.6329T>C ENSP00000416926.1:p.Ile2110Thr
ENST00000444578.1:c.296T>C ENSP00000397824.1:p.Ile99Thr
ENST00000466325.1:n.568T>C
ENST00000490936.5:n.2342T>C
ENST00000498411.1:n.67+19T>C
ENST00000610817.4:c.5844+595T>C ENSP00000480593.1:n.5844+595T>C
NM_001110556.1:c.6353T>C NP_001104026.1:p.Ile2118Thr
NM_001456.3:c.6329T>C NP_001447.2:p.Ile2110Thr
XM_011531127.1:c.6257T>C XP_011529429.1:p.Ile2086Thr
XM_011531128.1:c.6233T>C XP_011529430.1:p.Ile2078Thr
XM_011531129.1:c.6179T>C XP_011529431.1:p.Ile2060Thr
XM_011531130.1:c.6155T>C XP_011529432.1:p.Ile2052Thr
XM_011531131.1:c.6152T>C XP_011529433.1:p.Ile2051Thr
NM_001110556.2:c.6353T>C MANE Select NP_001104026.1:p.Ile2118Thr
NM_001456.4:c.6329T>C NP_001447.2:p.Ile2110Thr