Canonical Allele Identifier: CA415186721

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351998C>T , CM000685.2:g.154351998C>T	GRCh38
NC_000023.10:g.153580366C>T , CM000685.1:g.153580366C>T	GRCh37
NC_000023.9:g.153233560C>T	NCBI36
NG_011506.1:g.27641G>A
NG_011506.2:g.27641G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6793G>A MANE Select	NP_001104026.1:p.Glu2265Lys
ENST00000369850.10:c.6793G>A MANE Select	ENSP00000358866.3:p.Glu2265Lys
NM_001110556.1:c.6793G>A	NP_001104026.1:p.Glu2265Lys
NM_001456.3:c.6769G>A	NP_001447.2:p.Glu2257Lys
NM_001456.4:c.6769G>A	NP_001447.2:p.Glu2257Lys
ENST00000344736.8:c.6673G>A	ENSP00000358863.3:p.Glu2225Lys
ENST00000360319.8:c.6769G>A	ENSP00000353467.4:p.Glu2257Lys
ENST00000360319.9:c.6769G>A	ENSP00000353467.4:p.Glu2257Lys
ENST00000369850.7:c.6793G>A	ENSP00000358866.3:p.Glu2265Lys
ENST00000369856.7:c.6712G>A	ENSP00000358872.4:p.Glu2238Lys
ENST00000369856.8:c.6712G>A	ENSP00000358872.4:p.Glu2238Lys
ENST00000420627.5:c.6749G>A	ENSP00000408921.1:n.6749G>A
ENST00000422373.5:c.6769G>A	ENSP00000416926.1:p.Glu2257Lys
ENST00000422373.6:c.3574G>A	ENSP00000416926.2:p.Glu1192Lys
ENST00000444578.1:c.613G>A	ENSP00000397824.1:p.Glu205Lys
ENST00000474358.5:n.426G>A
ENST00000490936.5:n.2782G>A
ENST00000498411.1:n.67+819G>A
ENST00000610817.4:c.5845-48G>A	ENSP00000480593.1:n.5845-48G>A
ENST00000610817.5:c.6850G>A	ENSP00000480593.2:n.6850G>A
ENST00000673639.2:c.280-3308G>A
ENST00000676696.1:c.7072G>A	ENSP00000503392.1:n.7072G>A
ENST00000678304.1:n.1972G>A
XM_011531127.1:c.6697G>A	XP_011529429.1:p.Glu2233Lys
XM_011531128.1:c.6673G>A	XP_011529430.1:p.Glu2225Lys
XM_011531129.1:c.6619G>A	XP_011529431.1:p.Glu2207Lys
XM_011531130.1:c.6595G>A	XP_011529432.1:p.Glu2199Lys
XM_011531131.1:c.6592G>A	XP_011529433.1:p.Glu2198Lys