Canonical Allele Identifier: CA415194632
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352910T>A , CM000685.2:g.154352910T>A GRCh38
NC_000023.10:g.153581278T>A , CM000685.1:g.153581278T>A GRCh37
NC_000023.9:g.153234472T>A NCBI36
NG_011506.1:g.26729A>T
NG_011506.2:g.26729A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6217A>T ENSP00000353467.4:p.Ser2073Cys
ENST00000369850.10:c.6241A>T MANE Select ENSP00000358866.3:p.Ser2081Cys
ENST00000369856.8:c.6160A>T ENSP00000358872.4:p.Ser2054Cys
ENST00000422373.6:c.3161-235A>T ENSP00000416926.2:n.3161-235A>T
ENST00000610817.5:c.6298A>T ENSP00000480593.2:n.6298A>T
ENST00000673639.2:c.280-4220A>T
ENST00000676696.1:c.6520A>T ENSP00000503392.1:n.6520A>T
ENST00000678304.1:n.1420A>T
ENST00000344736.8:c.6121A>T ENSP00000358863.3:p.Ser2041Cys
ENST00000360319.8:c.6217A>T ENSP00000353467.4:p.Ser2073Cys
ENST00000369850.7:c.6241A>T ENSP00000358866.3:p.Ser2081Cys
ENST00000369856.7:c.6160A>T ENSP00000358872.4:p.Ser2054Cys
ENST00000415241.1:c.443A>T
ENST00000420627.5:c.6197A>T ENSP00000408921.1:n.6197A>T
ENST00000422373.5:c.6217A>T ENSP00000416926.1:p.Ser2073Cys
ENST00000444578.1:c.184A>T ENSP00000397824.1:p.Ser62Cys
ENST00000466325.1:n.456A>T
ENST00000490936.5:n.2230A>T
ENST00000610817.4:c.5844+483A>T ENSP00000480593.1:n.5844+483A>T
NM_001110556.1:c.6241A>T NP_001104026.1:p.Ser2081Cys
NM_001456.3:c.6217A>T NP_001447.2:p.Ser2073Cys
XM_011531127.1:c.6145A>T XP_011529429.1:p.Ser2049Cys
XM_011531128.1:c.6121A>T XP_011529430.1:p.Ser2041Cys
XM_011531129.1:c.6067A>T XP_011529431.1:p.Ser2023Cys
XM_011531130.1:c.6043A>T XP_011529432.1:p.Ser2015Cys
XM_011531131.1:c.6040A>T XP_011529433.1:p.Ser2014Cys
NM_001110556.2:c.6241A>T MANE Select NP_001104026.1:p.Ser2081Cys
NM_001456.4:c.6217A>T NP_001447.2:p.Ser2073Cys