Canonical Allele Identifier: CA415195808
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353088C>T , CM000685.2:g.154353088C>T GRCh38
NC_000023.10:g.153581456C>T , CM000685.1:g.153581456C>T GRCh37
NC_000023.9:g.153234650C>T NCBI36
NG_011506.1:g.26551G>A
NG_011506.2:g.26551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6115G>A ENSP00000353467.4:p.Ala2039Thr
ENST00000369850.10:c.6139G>A MANE Select ENSP00000358866.3:p.Ala2047Thr
ENST00000369856.8:c.6058G>A ENSP00000358872.4:p.Ala2020Thr
ENST00000422373.6:c.3161-413G>A ENSP00000416926.2:n.3161-413G>A
ENST00000610817.5:c.6196G>A ENSP00000480593.2:n.6196G>A
ENST00000673639.2:c.280-4398G>A
ENST00000676696.1:c.6418G>A ENSP00000503392.1:n.6418G>A
ENST00000678304.1:n.1318G>A
ENST00000344736.8:c.6019G>A ENSP00000358863.3:p.Ala2007Thr
ENST00000360319.8:c.6115G>A ENSP00000353467.4:p.Ala2039Thr
ENST00000369850.7:c.6139G>A ENSP00000358866.3:p.Ala2047Thr
ENST00000369856.7:c.6058G>A ENSP00000358872.4:p.Ala2020Thr
ENST00000415241.1:c.341G>A
ENST00000420627.5:c.6095G>A ENSP00000408921.1:n.6095G>A
ENST00000422373.5:c.6115G>A ENSP00000416926.1:p.Ala2039Thr
ENST00000444578.1:c.82G>A ENSP00000397824.1:p.Ala28Thr
ENST00000466325.1:n.278G>A
ENST00000490936.5:n.2128G>A
ENST00000610817.4:c.5844+305G>A ENSP00000480593.1:n.5844+305G>A
NM_001110556.1:c.6139G>A NP_001104026.1:p.Ala2047Thr
NM_001456.3:c.6115G>A NP_001447.2:p.Ala2039Thr
XM_011531127.1:c.6043G>A XP_011529429.1:p.Ala2015Thr
XM_011531128.1:c.6019G>A XP_011529430.1:p.Ala2007Thr
XM_011531129.1:c.5965G>A XP_011529431.1:p.Ala1989Thr
XM_011531130.1:c.5941G>A XP_011529432.1:p.Ala1981Thr
XM_011531131.1:c.5938G>A XP_011529433.1:p.Ala1980Thr
NM_001110556.2:c.6139G>A MANE Select NP_001104026.1:p.Ala2047Thr
NM_001456.4:c.6115G>A NP_001447.2:p.Ala2039Thr