Canonical Allele Identifier: CA10560294

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354175G>A , CM000685.2:g.154354175G>A	GRCh38
NC_000023.10:g.153582543G>A , CM000685.1:g.153582543G>A	GRCh37
NC_000023.9:g.153235737G>A	NCBI36
NG_011506.1:g.25464C>T
NG_011506.2:g.25464C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5533C>T MANE Select	NP_001104026.1:p.Arg1845Cys
ENST00000369850.10:c.5533C>T MANE Select	ENSP00000358866.3:p.Arg1845Cys
NM_001110556.1:c.5533C>T	NP_001104026.1:p.Arg1845Cys
NM_001456.3:c.5509C>T	NP_001447.2:p.Arg1837Cys
NM_001456.4:c.5509C>T	NP_001447.2:p.Arg1837Cys
ENST00000344736.8:c.5413C>T	ENSP00000358863.3:p.Arg1805Cys
ENST00000360319.8:c.5509C>T	ENSP00000353467.4:p.Arg1837Cys
ENST00000360319.9:c.5509C>T	ENSP00000353467.4:p.Arg1837Cys
ENST00000369850.7:c.5533C>T	ENSP00000358866.3:p.Arg1845Cys
ENST00000369856.7:c.5452C>T	ENSP00000358872.4:p.Arg1818Cys
ENST00000369856.8:c.5452C>T	ENSP00000358872.4:p.Arg1818Cys
ENST00000420627.5:c.5489C>T	ENSP00000408921.1:n.5489C>T
ENST00000422373.5:c.5509C>T	ENSP00000416926.1:p.Arg1837Cys
ENST00000422373.6:c.3161-1500C>T	ENSP00000416926.2:n.3161-1500C>T
ENST00000438732.2:c.381C>T
ENST00000474072.1:n.285C>T
ENST00000490936.5:n.1522C>T
ENST00000610817.4:c.5452C>T	ENSP00000480593.1:p.Arg1818Cys
ENST00000610817.5:c.5590C>T	ENSP00000480593.2:n.5590C>T
ENST00000673639.2:c.280-5485C>T
ENST00000676696.1:c.5812C>T	ENSP00000503392.1:n.5812C>T
ENST00000678304.1:n.712C>T
XM_011531127.1:c.5437C>T	XP_011529429.1:p.Arg1813Cys
XM_011531128.1:c.5413C>T	XP_011529430.1:p.Arg1805Cys
XM_011531129.1:c.5533C>T	XP_011529431.1:p.Arg1845Cys
XM_011531130.1:c.5509C>T	XP_011529432.1:p.Arg1837Cys
XM_011531131.1:c.5332C>T	XP_011529433.1:p.Arg1778Cys