Canonical Allele Identifier: CA415197353
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353344C>G , CM000685.2:g.154353344C>G GRCh38
NC_000023.10:g.153581712C>G , CM000685.1:g.153581712C>G GRCh37
NC_000023.9:g.153234906C>G NCBI36
NG_011506.1:g.26295G>C
NG_011506.2:g.26295G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5950G>C ENSP00000353467.4:p.Gly1984Arg
ENST00000369850.10:c.5974G>C MANE Select ENSP00000358866.3:p.Gly1992Arg
ENST00000369856.8:c.5893G>C ENSP00000358872.4:p.Gly1965Arg
ENST00000422373.6:c.3161-669G>C ENSP00000416926.2:n.3161-669G>C
ENST00000610817.5:c.6031G>C ENSP00000480593.2:n.6031G>C
ENST00000673639.2:c.280-4654G>C
ENST00000676696.1:c.6253G>C ENSP00000503392.1:n.6253G>C
ENST00000678304.1:n.1153G>C
ENST00000344736.8:c.5854G>C ENSP00000358863.3:p.Gly1952Arg
ENST00000360319.8:c.5950G>C ENSP00000353467.4:p.Gly1984Arg
ENST00000369850.7:c.5974G>C ENSP00000358866.3:p.Gly1992Arg
ENST00000369856.7:c.5893G>C ENSP00000358872.4:p.Gly1965Arg
ENST00000415241.1:c.159G>C
ENST00000420627.5:c.5930G>C ENSP00000408921.1:n.5930G>C
ENST00000422373.5:c.5950G>C ENSP00000416926.1:p.Gly1984Arg
ENST00000438732.2:c.648G>C
ENST00000466325.1:n.113G>C
ENST00000490936.5:n.1963G>C
ENST00000610817.4:c.5844+49G>C ENSP00000480593.1:n.5844+49G>C
NM_001110556.1:c.5974G>C NP_001104026.1:p.Gly1992Arg
NM_001456.3:c.5950G>C NP_001447.2:p.Gly1984Arg
XM_011531127.1:c.5878G>C XP_011529429.1:p.Gly1960Arg
XM_011531128.1:c.5854G>C XP_011529430.1:p.Gly1952Arg
XM_011531129.1:c.5800G>C XP_011529431.1:p.Gly1934Arg
XM_011531130.1:c.5776G>C XP_011529432.1:p.Gly1926Arg
XM_011531131.1:c.5773G>C XP_011529433.1:p.Gly1925Arg
NM_001110556.2:c.5974G>C MANE Select NP_001104026.1:p.Gly1992Arg
NM_001456.4:c.5950G>C NP_001447.2:p.Gly1984Arg