Canonical Allele Identifier: CA415192309
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352625T>G , CM000685.2:g.154352625T>G GRCh38
NC_000023.10:g.153580993T>G , CM000685.1:g.153580993T>G GRCh37
NC_000023.9:g.153234187T>G NCBI36
NG_011506.1:g.27014A>C
NG_011506.2:g.27014A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6406A>C ENSP00000353467.4:p.Ile2136Leu
ENST00000369850.10:c.6430A>C MANE Select ENSP00000358866.3:p.Ile2144Leu
ENST00000369856.8:c.6349A>C ENSP00000358872.4:p.Ile2117Leu
ENST00000422373.6:c.3211A>C ENSP00000416926.2:p.Ile1071Leu
ENST00000610817.5:c.6487A>C ENSP00000480593.2:n.6487A>C
ENST00000673639.2:c.280-3935A>C
ENST00000676696.1:c.6709A>C ENSP00000503392.1:n.6709A>C
ENST00000678304.1:n.1609A>C
ENST00000344736.8:c.6310A>C ENSP00000358863.3:p.Ile2104Leu
ENST00000360319.8:c.6406A>C ENSP00000353467.4:p.Ile2136Leu
ENST00000369850.7:c.6430A>C ENSP00000358866.3:p.Ile2144Leu
ENST00000369856.7:c.6349A>C ENSP00000358872.4:p.Ile2117Leu
ENST00000415241.1:c.632A>C
ENST00000420627.5:c.6386A>C ENSP00000408921.1:n.6386A>C
ENST00000422373.5:c.6406A>C ENSP00000416926.1:p.Ile2136Leu
ENST00000444578.1:c.322+147A>C ENSP00000397824.1:n.322+147A>C
ENST00000466325.1:n.741A>C
ENST00000474358.5:n.63A>C
ENST00000490936.5:n.2419A>C
ENST00000498411.1:n.67+192A>C
ENST00000610817.4:c.5845-675A>C ENSP00000480593.1:n.5845-675A>C
NM_001110556.1:c.6430A>C NP_001104026.1:p.Ile2144Leu
NM_001456.3:c.6406A>C NP_001447.2:p.Ile2136Leu
XM_011531127.1:c.6334A>C XP_011529429.1:p.Ile2112Leu
XM_011531128.1:c.6310A>C XP_011529430.1:p.Ile2104Leu
XM_011531129.1:c.6256A>C XP_011529431.1:p.Ile2086Leu
XM_011531130.1:c.6232A>C XP_011529432.1:p.Ile2078Leu
XM_011531131.1:c.6229A>C XP_011529433.1:p.Ile2077Leu
NM_001110556.2:c.6430A>C MANE Select NP_001104026.1:p.Ile2144Leu
NM_001456.4:c.6406A>C NP_001447.2:p.Ile2136Leu