Canonical Allele Identifier: CA415193046
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352783T>G , CM000685.2:g.154352783T>G GRCh38
NC_000023.10:g.153581151T>G , CM000685.1:g.153581151T>G GRCh37
NC_000023.9:g.153234345T>G NCBI36
NG_011506.1:g.26856A>C
NG_011506.2:g.26856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6344A>C ENSP00000353467.4:p.Gln2115Pro
ENST00000369850.10:c.6368A>C MANE Select ENSP00000358866.3:p.Gln2123Pro
ENST00000369856.8:c.6287A>C ENSP00000358872.4:p.Gln2096Pro
ENST00000422373.6:c.3161-108A>C ENSP00000416926.2:n.3161-108A>C
ENST00000610817.5:c.6425A>C ENSP00000480593.2:n.6425A>C
ENST00000673639.2:c.280-4093A>C
ENST00000676696.1:c.6647A>C ENSP00000503392.1:n.6647A>C
ENST00000678304.1:n.1547A>C
ENST00000344736.8:c.6248A>C ENSP00000358863.3:p.Gln2083Pro
ENST00000360319.8:c.6344A>C ENSP00000353467.4:p.Gln2115Pro
ENST00000369850.7:c.6368A>C ENSP00000358866.3:p.Gln2123Pro
ENST00000369856.7:c.6287A>C ENSP00000358872.4:p.Gln2096Pro
ENST00000415241.1:c.570A>C
ENST00000420627.5:c.6324A>C ENSP00000408921.1:n.6324A>C
ENST00000422373.5:c.6344A>C ENSP00000416926.1:p.Gln2115Pro
ENST00000444578.1:c.311A>C ENSP00000397824.1:p.Gln104Pro
ENST00000466325.1:n.583A>C
ENST00000474358.5:n.1A>C
ENST00000490936.5:n.2357A>C
ENST00000498411.1:n.67+34A>C
ENST00000610817.4:c.5844+610A>C ENSP00000480593.1:n.5844+610A>C
NM_001110556.1:c.6368A>C NP_001104026.1:p.Gln2123Pro
NM_001456.3:c.6344A>C NP_001447.2:p.Gln2115Pro
XM_011531127.1:c.6272A>C XP_011529429.1:p.Gln2091Pro
XM_011531128.1:c.6248A>C XP_011529430.1:p.Gln2083Pro
XM_011531129.1:c.6194A>C XP_011529431.1:p.Gln2065Pro
XM_011531130.1:c.6170A>C XP_011529432.1:p.Gln2057Pro
XM_011531131.1:c.6167A>C XP_011529433.1:p.Gln2056Pro
NM_001110556.2:c.6368A>C MANE Select NP_001104026.1:p.Gln2123Pro
NM_001456.4:c.6344A>C NP_001447.2:p.Gln2115Pro