Canonical Allele Identifier: CA10560056

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352337C>T , CM000685.2:g.154352337C>T	GRCh38
NC_000023.10:g.153580705C>T , CM000685.1:g.153580705C>T	GRCh37
NC_000023.9:g.153233899C>T	NCBI36
NG_011506.1:g.27302G>A
NG_011506.2:g.27302G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6613G>A MANE Select	NP_001104026.1:p.Ala2205Thr
ENST00000369850.10:c.6613G>A MANE Select	ENSP00000358866.3:p.Ala2205Thr
NM_001110556.1:c.6613G>A	NP_001104026.1:p.Ala2205Thr
NM_001456.3:c.6589G>A	NP_001447.2:p.Ala2197Thr
NM_001456.4:c.6589G>A	NP_001447.2:p.Ala2197Thr
ENST00000344736.8:c.6493G>A	ENSP00000358863.3:p.Ala2165Thr
ENST00000360319.8:c.6589G>A	ENSP00000353467.4:p.Ala2197Thr
ENST00000360319.9:c.6589G>A	ENSP00000353467.4:p.Ala2197Thr
ENST00000369850.7:c.6613G>A	ENSP00000358866.3:p.Ala2205Thr
ENST00000369856.7:c.6532G>A	ENSP00000358872.4:p.Ala2178Thr
ENST00000369856.8:c.6532G>A	ENSP00000358872.4:p.Ala2178Thr
ENST00000420627.5:c.6569G>A	ENSP00000408921.1:n.6569G>A
ENST00000422373.5:c.6589G>A	ENSP00000416926.1:p.Ala2197Thr
ENST00000422373.6:c.3394G>A	ENSP00000416926.2:p.Ala1132Thr
ENST00000444578.1:c.433G>A	ENSP00000397824.1:p.Ala145Thr
ENST00000474358.5:n.246G>A
ENST00000490936.5:n.2602G>A
ENST00000498411.1:n.67+480G>A
ENST00000610817.4:c.5845-387G>A	ENSP00000480593.1:n.5845-387G>A
ENST00000610817.5:c.6670G>A	ENSP00000480593.2:n.6670G>A
ENST00000673639.2:c.280-3647G>A
ENST00000676696.1:c.6892G>A	ENSP00000503392.1:n.6892G>A
ENST00000678304.1:n.1792G>A
XM_011531127.1:c.6517G>A	XP_011529429.1:p.Ala2173Thr
XM_011531128.1:c.6493G>A	XP_011529430.1:p.Ala2165Thr
XM_011531129.1:c.6439G>A	XP_011529431.1:p.Ala2147Thr
XM_011531130.1:c.6415G>A	XP_011529432.1:p.Ala2139Thr
XM_011531131.1:c.6412G>A	XP_011529433.1:p.Ala2138Thr