Canonical Allele Identifier: CA415195975
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353109T>A , CM000685.2:g.154353109T>A GRCh38
NC_000023.10:g.153581477T>A , CM000685.1:g.153581477T>A GRCh37
NC_000023.9:g.153234671T>A NCBI36
NG_011506.1:g.26530A>T
NG_011506.2:g.26530A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6094A>T ENSP00000353467.4:p.Ser2032Cys
ENST00000369850.10:c.6118A>T MANE Select ENSP00000358866.3:p.Ser2040Cys
ENST00000369856.8:c.6037A>T ENSP00000358872.4:p.Ser2013Cys
ENST00000422373.6:c.3161-434A>T ENSP00000416926.2:n.3161-434A>T
ENST00000610817.5:c.6175A>T ENSP00000480593.2:n.6175A>T
ENST00000673639.2:c.280-4419A>T
ENST00000676696.1:c.6397A>T ENSP00000503392.1:n.6397A>T
ENST00000678304.1:n.1297A>T
ENST00000344736.8:c.5998A>T ENSP00000358863.3:p.Ser2000Cys
ENST00000360319.8:c.6094A>T ENSP00000353467.4:p.Ser2032Cys
ENST00000369850.7:c.6118A>T ENSP00000358866.3:p.Ser2040Cys
ENST00000369856.7:c.6037A>T ENSP00000358872.4:p.Ser2013Cys
ENST00000415241.1:c.320A>T
ENST00000420627.5:c.6074A>T ENSP00000408921.1:n.6074A>T
ENST00000422373.5:c.6094A>T ENSP00000416926.1:p.Ser2032Cys
ENST00000444578.1:c.61A>T ENSP00000397824.1:p.Ser21Cys
ENST00000466325.1:n.257A>T
ENST00000490936.5:n.2107A>T
ENST00000610817.4:c.5844+284A>T ENSP00000480593.1:n.5844+284A>T
NM_001110556.1:c.6118A>T NP_001104026.1:p.Ser2040Cys
NM_001456.3:c.6094A>T NP_001447.2:p.Ser2032Cys
XM_011531127.1:c.6022A>T XP_011529429.1:p.Ser2008Cys
XM_011531128.1:c.5998A>T XP_011529430.1:p.Ser2000Cys
XM_011531129.1:c.5944A>T XP_011529431.1:p.Ser1982Cys
XM_011531130.1:c.5920A>T XP_011529432.1:p.Ser1974Cys
XM_011531131.1:c.5917A>T XP_011529433.1:p.Ser1973Cys
NM_001110556.2:c.6118A>T MANE Select NP_001104026.1:p.Ser2040Cys
NM_001456.4:c.6094A>T NP_001447.2:p.Ser2032Cys