Canonical Allele Identifier: CA415194354
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352885T>C , CM000685.2:g.154352885T>C GRCh38
NC_000023.10:g.153581253T>C , CM000685.1:g.153581253T>C GRCh37
NC_000023.9:g.153234447T>C NCBI36
NG_011506.1:g.26754A>G
NG_011506.2:g.26754A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6242A>G ENSP00000353467.4:p.Lys2081Arg
ENST00000369850.10:c.6266A>G MANE Select ENSP00000358866.3:p.Lys2089Arg
ENST00000369856.8:c.6185A>G ENSP00000358872.4:p.Lys2062Arg
ENST00000422373.6:c.3161-210A>G ENSP00000416926.2:n.3161-210A>G
ENST00000610817.5:c.6323A>G ENSP00000480593.2:n.6323A>G
ENST00000673639.2:c.280-4195A>G
ENST00000676696.1:c.6545A>G ENSP00000503392.1:n.6545A>G
ENST00000678304.1:n.1445A>G
ENST00000344736.8:c.6146A>G ENSP00000358863.3:p.Lys2049Arg
ENST00000360319.8:c.6242A>G ENSP00000353467.4:p.Lys2081Arg
ENST00000369850.7:c.6266A>G ENSP00000358866.3:p.Lys2089Arg
ENST00000369856.7:c.6185A>G ENSP00000358872.4:p.Lys2062Arg
ENST00000415241.1:c.468A>G
ENST00000420627.5:c.6222A>G ENSP00000408921.1:n.6222A>G
ENST00000422373.5:c.6242A>G ENSP00000416926.1:p.Lys2081Arg
ENST00000444578.1:c.209A>G ENSP00000397824.1:p.Lys70Arg
ENST00000466325.1:n.481A>G
ENST00000490936.5:n.2255A>G
ENST00000610817.4:c.5844+508A>G ENSP00000480593.1:n.5844+508A>G
NM_001110556.1:c.6266A>G NP_001104026.1:p.Lys2089Arg
NM_001456.3:c.6242A>G NP_001447.2:p.Lys2081Arg
XM_011531127.1:c.6170A>G XP_011529429.1:p.Lys2057Arg
XM_011531128.1:c.6146A>G XP_011529430.1:p.Lys2049Arg
XM_011531129.1:c.6092A>G XP_011529431.1:p.Lys2031Arg
XM_011531130.1:c.6068A>G XP_011529432.1:p.Lys2023Arg
XM_011531131.1:c.6065A>G XP_011529433.1:p.Lys2022Arg
NM_001110556.2:c.6266A>G MANE Select NP_001104026.1:p.Lys2089Arg
NM_001456.4:c.6242A>G NP_001447.2:p.Lys2081Arg