Canonical Allele Identifier: CA415184748
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350926A>G , CM000685.2:g.154350926A>G GRCh38
NC_000023.10:g.153579294A>G , CM000685.1:g.153579294A>G GRCh37
NC_000023.9:g.153232488A>G NCBI36
NG_011506.1:g.28713T>C
NG_011506.2:g.28713T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.7115T>C ENSP00000353467.4:p.Val2372Ala
ENST00000369850.10:c.7139T>C MANE Select ENSP00000358866.3:p.Val2380Ala
ENST00000369856.8:c.7058T>C ENSP00000358872.4:p.Val2353Ala
ENST00000422373.6:c.3920T>C ENSP00000416926.2:p.Val1307Ala
ENST00000610817.5:c.7196T>C ENSP00000480593.2:n.7196T>C
ENST00000673639.2:c.280-2236T>C
ENST00000676696.1:c.7418T>C ENSP00000503392.1:n.7418T>C
ENST00000678304.1:n.2857T>C
ENST00000344736.8:c.7019T>C ENSP00000358863.3:p.Val2340Ala
ENST00000360319.8:c.7115T>C ENSP00000353467.4:p.Val2372Ala
ENST00000369850.7:c.7139T>C ENSP00000358866.3:p.Val2380Ala
ENST00000369856.7:c.7058T>C ENSP00000358872.4:p.Val2353Ala
ENST00000420627.5:c.7095T>C ENSP00000408921.1:n.7095T>C
ENST00000422373.5:c.7115T>C ENSP00000416926.1:p.Val2372Ala
ENST00000490936.5:n.3667T>C
ENST00000498411.1:n.67+1891T>C
ENST00000498491.5:n.180T>C
ENST00000610817.4:c.6143T>C ENSP00000480593.1:p.Val2048Ala
NM_001110556.1:c.7139T>C NP_001104026.1:p.Val2380Ala
NM_001456.3:c.7115T>C NP_001447.2:p.Val2372Ala
XM_011531127.1:c.7043T>C XP_011529429.1:p.Val2348Ala
XM_011531128.1:c.7019T>C XP_011529430.1:p.Val2340Ala
XM_011531129.1:c.6965T>C XP_011529431.1:p.Val2322Ala
XM_011531130.1:c.6941T>C XP_011529432.1:p.Val2314Ala
XM_011531131.1:c.6938T>C XP_011529433.1:p.Val2313Ala
NM_001110556.2:c.7139T>C MANE Select NP_001104026.1:p.Val2380Ala
NM_001456.4:c.7115T>C NP_001447.2:p.Val2372Ala