Canonical Allele Identifier: CA10560059

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352343C>T , CM000685.2:g.154352343C>T	GRCh38
NC_000023.10:g.153580711C>T , CM000685.1:g.153580711C>T	GRCh37
NC_000023.9:g.153233905C>T	NCBI36
NG_011506.1:g.27296G>A
NG_011506.2:g.27296G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6607G>A MANE Select	NP_001104026.1:p.Val2203Ile
ENST00000369850.10:c.6607G>A MANE Select	ENSP00000358866.3:p.Val2203Ile
NM_001110556.1:c.6607G>A	NP_001104026.1:p.Val2203Ile
NM_001456.3:c.6583G>A	NP_001447.2:p.Val2195Ile
NM_001456.4:c.6583G>A	NP_001447.2:p.Val2195Ile
ENST00000344736.8:c.6487G>A	ENSP00000358863.3:p.Val2163Ile
ENST00000360319.8:c.6583G>A	ENSP00000353467.4:p.Val2195Ile
ENST00000360319.9:c.6583G>A	ENSP00000353467.4:p.Val2195Ile
ENST00000369850.7:c.6607G>A	ENSP00000358866.3:p.Val2203Ile
ENST00000369856.7:c.6526G>A	ENSP00000358872.4:p.Val2176Ile
ENST00000369856.8:c.6526G>A	ENSP00000358872.4:p.Val2176Ile
ENST00000420627.5:c.6563G>A	ENSP00000408921.1:n.6563G>A
ENST00000422373.5:c.6583G>A	ENSP00000416926.1:p.Val2195Ile
ENST00000422373.6:c.3388G>A	ENSP00000416926.2:p.Val1130Ile
ENST00000444578.1:c.427G>A	ENSP00000397824.1:p.Val143Ile
ENST00000474358.5:n.240G>A
ENST00000490936.5:n.2596G>A
ENST00000498411.1:n.67+474G>A
ENST00000610817.4:c.5845-393G>A	ENSP00000480593.1:n.5845-393G>A
ENST00000610817.5:c.6664G>A	ENSP00000480593.2:n.6664G>A
ENST00000673639.2:c.280-3653G>A
ENST00000676696.1:c.6886G>A	ENSP00000503392.1:n.6886G>A
ENST00000678304.1:n.1786G>A
XM_011531127.1:c.6511G>A	XP_011529429.1:p.Val2171Ile
XM_011531128.1:c.6487G>A	XP_011529430.1:p.Val2163Ile
XM_011531129.1:c.6433G>A	XP_011529431.1:p.Val2145Ile
XM_011531130.1:c.6409G>A	XP_011529432.1:p.Val2137Ile
XM_011531131.1:c.6406G>A	XP_011529433.1:p.Val2136Ile