Canonical Allele Identifier: CA415195790
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353084C>G , CM000685.2:g.154353084C>G GRCh38
NC_000023.10:g.153581452C>G , CM000685.1:g.153581452C>G GRCh37
NC_000023.9:g.153234646C>G NCBI36
NG_011506.1:g.26555G>C
NG_011506.2:g.26555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6119G>C ENSP00000353467.4:p.Ser2040Thr
ENST00000369850.10:c.6143G>C MANE Select ENSP00000358866.3:p.Ser2048Thr
ENST00000369856.8:c.6062G>C ENSP00000358872.4:p.Ser2021Thr
ENST00000422373.6:c.3161-409G>C ENSP00000416926.2:n.3161-409G>C
ENST00000610817.5:c.6200G>C ENSP00000480593.2:n.6200G>C
ENST00000673639.2:c.280-4394G>C
ENST00000676696.1:c.6422G>C ENSP00000503392.1:n.6422G>C
ENST00000678304.1:n.1322G>C
ENST00000344736.8:c.6023G>C ENSP00000358863.3:p.Ser2008Thr
ENST00000360319.8:c.6119G>C ENSP00000353467.4:p.Ser2040Thr
ENST00000369850.7:c.6143G>C ENSP00000358866.3:p.Ser2048Thr
ENST00000369856.7:c.6062G>C ENSP00000358872.4:p.Ser2021Thr
ENST00000415241.1:c.345G>C
ENST00000420627.5:c.6099G>C ENSP00000408921.1:n.6099G>C
ENST00000422373.5:c.6119G>C ENSP00000416926.1:p.Ser2040Thr
ENST00000444578.1:c.86G>C ENSP00000397824.1:p.Ser29Thr
ENST00000466325.1:n.282G>C
ENST00000490936.5:n.2132G>C
ENST00000610817.4:c.5844+309G>C ENSP00000480593.1:n.5844+309G>C
NM_001110556.1:c.6143G>C NP_001104026.1:p.Ser2048Thr
NM_001456.3:c.6119G>C NP_001447.2:p.Ser2040Thr
XM_011531127.1:c.6047G>C XP_011529429.1:p.Ser2016Thr
XM_011531128.1:c.6023G>C XP_011529430.1:p.Ser2008Thr
XM_011531129.1:c.5969G>C XP_011529431.1:p.Ser1990Thr
XM_011531130.1:c.5945G>C XP_011529432.1:p.Ser1982Thr
XM_011531131.1:c.5942G>C XP_011529433.1:p.Ser1981Thr
NM_001110556.2:c.6143G>C MANE Select NP_001104026.1:p.Ser2048Thr
NM_001456.4:c.6119G>C NP_001447.2:p.Ser2040Thr