Canonical Allele Identifier: CA415192417
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352634T>G , CM000685.2:g.154352634T>G GRCh38
NC_000023.10:g.153581002T>G , CM000685.1:g.153581002T>G GRCh37
NC_000023.9:g.153234196T>G NCBI36
NG_011506.1:g.27005A>C
NG_011506.2:g.27005A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6397A>C ENSP00000353467.4:p.Lys2133Gln
ENST00000369850.10:c.6421A>C MANE Select ENSP00000358866.3:p.Lys2141Gln
ENST00000369856.8:c.6340A>C ENSP00000358872.4:p.Lys2114Gln
ENST00000422373.6:c.3202A>C ENSP00000416926.2:p.Lys1068Gln
ENST00000610817.5:c.6478A>C ENSP00000480593.2:n.6478A>C
ENST00000673639.2:c.280-3944A>C
ENST00000676696.1:c.6700A>C ENSP00000503392.1:n.6700A>C
ENST00000678304.1:n.1600A>C
ENST00000344736.8:c.6301A>C ENSP00000358863.3:p.Lys2101Gln
ENST00000360319.8:c.6397A>C ENSP00000353467.4:p.Lys2133Gln
ENST00000369850.7:c.6421A>C ENSP00000358866.3:p.Lys2141Gln
ENST00000369856.7:c.6340A>C ENSP00000358872.4:p.Lys2114Gln
ENST00000415241.1:c.623A>C
ENST00000420627.5:c.6377A>C ENSP00000408921.1:n.6377A>C
ENST00000422373.5:c.6397A>C ENSP00000416926.1:p.Lys2133Gln
ENST00000444578.1:c.322+138A>C ENSP00000397824.1:n.322+138A>C
ENST00000466325.1:n.732A>C
ENST00000474358.5:n.54A>C
ENST00000490936.5:n.2410A>C
ENST00000498411.1:n.67+183A>C
ENST00000610817.4:c.5845-684A>C ENSP00000480593.1:n.5845-684A>C
NM_001110556.1:c.6421A>C NP_001104026.1:p.Lys2141Gln
NM_001456.3:c.6397A>C NP_001447.2:p.Lys2133Gln
XM_011531127.1:c.6325A>C XP_011529429.1:p.Lys2109Gln
XM_011531128.1:c.6301A>C XP_011529430.1:p.Lys2101Gln
XM_011531129.1:c.6247A>C XP_011529431.1:p.Lys2083Gln
XM_011531130.1:c.6223A>C XP_011529432.1:p.Lys2075Gln
XM_011531131.1:c.6220A>C XP_011529433.1:p.Lys2074Gln
NM_001110556.2:c.6421A>C MANE Select NP_001104026.1:p.Lys2141Gln
NM_001456.4:c.6397A>C NP_001447.2:p.Lys2133Gln