Canonical Allele Identifier: CA415185240

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351014C>T , CM000685.2:g.154351014C>T	GRCh38
NC_000023.10:g.153579382C>T , CM000685.1:g.153579382C>T	GRCh37
NC_000023.9:g.153232576C>T	NCBI36
NG_011506.1:g.28625G>A
NG_011506.2:g.28625G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7051G>A MANE Select	NP_001104026.1:p.Ala2351Thr
ENST00000369850.10:c.7051G>A MANE Select	ENSP00000358866.3:p.Ala2351Thr
NM_001110556.1:c.7051G>A	NP_001104026.1:p.Ala2351Thr
NM_001456.3:c.7027G>A	NP_001447.2:p.Ala2343Thr
NM_001456.4:c.7027G>A	NP_001447.2:p.Ala2343Thr
ENST00000344736.8:c.6931G>A	ENSP00000358863.3:p.Ala2311Thr
ENST00000360319.8:c.7027G>A	ENSP00000353467.4:p.Ala2343Thr
ENST00000360319.9:c.7027G>A	ENSP00000353467.4:p.Ala2343Thr
ENST00000369850.7:c.7051G>A	ENSP00000358866.3:p.Ala2351Thr
ENST00000369856.7:c.6970G>A	ENSP00000358872.4:p.Ala2324Thr
ENST00000369856.8:c.6970G>A	ENSP00000358872.4:p.Ala2324Thr
ENST00000420627.5:c.7007G>A	ENSP00000408921.1:n.7007G>A
ENST00000422373.5:c.7027G>A	ENSP00000416926.1:p.Ala2343Thr
ENST00000422373.6:c.3832G>A	ENSP00000416926.2:p.Ala1278Thr
ENST00000490936.5:n.3579G>A
ENST00000498411.1:n.67+1803G>A
ENST00000498491.5:n.92G>A
ENST00000610817.4:c.6055G>A	ENSP00000480593.1:p.Ala2019Thr
ENST00000610817.5:c.7108G>A	ENSP00000480593.2:n.7108G>A
ENST00000673639.2:c.280-2324G>A
ENST00000676696.1:c.7330G>A	ENSP00000503392.1:n.7330G>A
ENST00000678304.1:n.2769G>A
XM_011531127.1:c.6955G>A	XP_011529429.1:p.Ala2319Thr
XM_011531128.1:c.6931G>A	XP_011529430.1:p.Ala2311Thr
XM_011531129.1:c.6877G>A	XP_011529431.1:p.Ala2293Thr
XM_011531130.1:c.6853G>A	XP_011529432.1:p.Ala2285Thr
XM_011531131.1:c.6850G>A	XP_011529433.1:p.Ala2284Thr