Canonical Allele Identifier: CA415195723
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1944706
ClinVar RCV Id: RCV002671194

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353075C>G , CM000685.2:g.154353075C>G GRCh38
NC_000023.10:g.153581443C>G , CM000685.1:g.153581443C>G GRCh37
NC_000023.9:g.153234637C>G NCBI36
NG_011506.1:g.26564G>C
NG_011506.2:g.26564G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6128G>C ENSP00000353467.4:p.Arg2043Pro
ENST00000369850.10:c.6152G>C MANE Select ENSP00000358866.3:p.Arg2051Pro
ENST00000369856.8:c.6071G>C ENSP00000358872.4:p.Arg2024Pro
ENST00000422373.6:c.3161-400G>C ENSP00000416926.2:n.3161-400G>C
ENST00000610817.5:c.6209G>C ENSP00000480593.2:n.6209G>C
ENST00000673639.2:c.280-4385G>C
ENST00000676696.1:c.6431G>C ENSP00000503392.1:n.6431G>C
ENST00000678304.1:n.1331G>C
ENST00000344736.8:c.6032G>C ENSP00000358863.3:p.Arg2011Pro
ENST00000360319.8:c.6128G>C ENSP00000353467.4:p.Arg2043Pro
ENST00000369850.7:c.6152G>C ENSP00000358866.3:p.Arg2051Pro
ENST00000369856.7:c.6071G>C ENSP00000358872.4:p.Arg2024Pro
ENST00000415241.1:c.354G>C
ENST00000420627.5:c.6108G>C ENSP00000408921.1:n.6108G>C
ENST00000422373.5:c.6128G>C ENSP00000416926.1:p.Arg2043Pro
ENST00000444578.1:c.95G>C ENSP00000397824.1:p.Arg32Pro
ENST00000466325.1:n.291G>C
ENST00000490936.5:n.2141G>C
ENST00000610817.4:c.5844+318G>C ENSP00000480593.1:n.5844+318G>C
NM_001110556.1:c.6152G>C NP_001104026.1:p.Arg2051Pro
NM_001456.3:c.6128G>C NP_001447.2:p.Arg2043Pro
XM_011531127.1:c.6056G>C XP_011529429.1:p.Arg2019Pro
XM_011531128.1:c.6032G>C XP_011529430.1:p.Arg2011Pro
XM_011531129.1:c.5978G>C XP_011529431.1:p.Arg1993Pro
XM_011531130.1:c.5954G>C XP_011529432.1:p.Arg1985Pro
XM_011531131.1:c.5951G>C XP_011529433.1:p.Arg1984Pro
NM_001110556.2:c.6152G>C MANE Select NP_001104026.1:p.Arg2051Pro
NM_001456.4:c.6128G>C NP_001447.2:p.Arg2043Pro