Canonical Allele Identifier: CA415192649
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352663G>C , CM000685.2:g.154352663G>C GRCh38
NC_000023.10:g.153581031G>C , CM000685.1:g.153581031G>C GRCh37
NC_000023.9:g.153234225G>C NCBI36
NG_011506.1:g.26976C>G
NG_011506.2:g.26976C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6368C>G ENSP00000353467.4:p.Ser2123Cys
ENST00000369850.10:c.6392C>G MANE Select ENSP00000358866.3:p.Ser2131Cys
ENST00000369856.8:c.6311C>G ENSP00000358872.4:p.Ser2104Cys
ENST00000422373.6:c.3173C>G ENSP00000416926.2:p.Ser1058Cys
ENST00000610817.5:c.6449C>G ENSP00000480593.2:n.6449C>G
ENST00000673639.2:c.280-3973C>G
ENST00000676696.1:c.6671C>G ENSP00000503392.1:n.6671C>G
ENST00000678304.1:n.1571C>G
ENST00000344736.8:c.6272C>G ENSP00000358863.3:p.Ser2091Cys
ENST00000360319.8:c.6368C>G ENSP00000353467.4:p.Ser2123Cys
ENST00000369850.7:c.6392C>G ENSP00000358866.3:p.Ser2131Cys
ENST00000369856.7:c.6311C>G ENSP00000358872.4:p.Ser2104Cys
ENST00000415241.1:c.594C>G
ENST00000420627.5:c.6348C>G ENSP00000408921.1:n.6348C>G
ENST00000422373.5:c.6368C>G ENSP00000416926.1:p.Ser2123Cys
ENST00000444578.1:c.322+109C>G ENSP00000397824.1:n.322+109C>G
ENST00000466325.1:n.703C>G
ENST00000474358.5:n.25C>G
ENST00000490936.5:n.2381C>G
ENST00000498411.1:n.67+154C>G
ENST00000610817.4:c.5845-713C>G ENSP00000480593.1:n.5845-713C>G
NM_001110556.1:c.6392C>G NP_001104026.1:p.Ser2131Cys
NM_001456.3:c.6368C>G NP_001447.2:p.Ser2123Cys
XM_011531127.1:c.6296C>G XP_011529429.1:p.Ser2099Cys
XM_011531128.1:c.6272C>G XP_011529430.1:p.Ser2091Cys
XM_011531129.1:c.6218C>G XP_011529431.1:p.Ser2073Cys
XM_011531130.1:c.6194C>G XP_011529432.1:p.Ser2065Cys
XM_011531131.1:c.6191C>G XP_011529433.1:p.Ser2064Cys
NM_001110556.2:c.6392C>G MANE Select NP_001104026.1:p.Ser2131Cys
NM_001456.4:c.6368C>G NP_001447.2:p.Ser2123Cys