Canonical Allele Identifier: CA415195995
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353111A>G , CM000685.2:g.154353111A>G GRCh38
NC_000023.10:g.153581479A>G , CM000685.1:g.153581479A>G GRCh37
NC_000023.9:g.153234673A>G NCBI36
NG_011506.1:g.26528T>C
NG_011506.2:g.26528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6092T>C ENSP00000353467.4:p.Ile2031Thr
ENST00000369850.10:c.6116T>C MANE Select ENSP00000358866.3:p.Ile2039Thr
ENST00000369856.8:c.6035T>C ENSP00000358872.4:p.Ile2012Thr
ENST00000422373.6:c.3161-436T>C ENSP00000416926.2:n.3161-436T>C
ENST00000610817.5:c.6173T>C ENSP00000480593.2:n.6173T>C
ENST00000673639.2:c.280-4421T>C
ENST00000676696.1:c.6395T>C ENSP00000503392.1:n.6395T>C
ENST00000678304.1:n.1295T>C
ENST00000344736.8:c.5996T>C ENSP00000358863.3:p.Ile1999Thr
ENST00000360319.8:c.6092T>C ENSP00000353467.4:p.Ile2031Thr
ENST00000369850.7:c.6116T>C ENSP00000358866.3:p.Ile2039Thr
ENST00000369856.7:c.6035T>C ENSP00000358872.4:p.Ile2012Thr
ENST00000415241.1:c.318T>C
ENST00000420627.5:c.6072T>C ENSP00000408921.1:n.6072T>C
ENST00000422373.5:c.6092T>C ENSP00000416926.1:p.Ile2031Thr
ENST00000444578.1:c.59T>C ENSP00000397824.1:p.Ile20Thr
ENST00000466325.1:n.255T>C
ENST00000490936.5:n.2105T>C
ENST00000610817.4:c.5844+282T>C ENSP00000480593.1:n.5844+282T>C
NM_001110556.1:c.6116T>C NP_001104026.1:p.Ile2039Thr
NM_001456.3:c.6092T>C NP_001447.2:p.Ile2031Thr
XM_011531127.1:c.6020T>C XP_011529429.1:p.Ile2007Thr
XM_011531128.1:c.5996T>C XP_011529430.1:p.Ile1999Thr
XM_011531129.1:c.5942T>C XP_011529431.1:p.Ile1981Thr
XM_011531130.1:c.5918T>C XP_011529432.1:p.Ile1973Thr
XM_011531131.1:c.5915T>C XP_011529433.1:p.Ile1972Thr
NM_001110556.2:c.6116T>C MANE Select NP_001104026.1:p.Ile2039Thr
NM_001456.4:c.6092T>C NP_001447.2:p.Ile2031Thr