Canonical Allele Identifier: CA10559975

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351604G>A , CM000685.2:g.154351604G>A	GRCh38
NC_000023.10:g.153579972G>A , CM000685.1:g.153579972G>A	GRCh37
NC_000023.9:g.153233166G>A	NCBI36
NG_011506.1:g.28035C>T
NG_011506.2:g.28035C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7000C>T MANE Select	NP_001104026.1:p.Arg2334Cys
ENST00000369850.10:c.7000C>T MANE Select	ENSP00000358866.3:p.Arg2334Cys
NM_001110556.1:c.7000C>T	NP_001104026.1:p.Arg2334Cys
NM_001456.3:c.6976C>T	NP_001447.2:p.Arg2326Cys
NM_001456.4:c.6976C>T	NP_001447.2:p.Arg2326Cys
ENST00000344736.8:c.6880C>T	ENSP00000358863.3:p.Arg2294Cys
ENST00000360319.8:c.6976C>T	ENSP00000353467.4:p.Arg2326Cys
ENST00000360319.9:c.6976C>T	ENSP00000353467.4:p.Arg2326Cys
ENST00000369850.7:c.7000C>T	ENSP00000358866.3:p.Arg2334Cys
ENST00000369856.7:c.6919C>T	ENSP00000358872.4:p.Arg2307Cys
ENST00000369856.8:c.6919C>T	ENSP00000358872.4:p.Arg2307Cys
ENST00000420627.5:c.6956C>T	ENSP00000408921.1:n.6956C>T
ENST00000422373.5:c.6976C>T	ENSP00000416926.1:p.Arg2326Cys
ENST00000422373.6:c.3781C>T	ENSP00000416926.2:p.Arg1261Cys
ENST00000444578.1:c.820C>T	ENSP00000397824.1:p.Arg274Cys
ENST00000490936.5:n.2989C>T
ENST00000498411.1:n.67+1213C>T
ENST00000610817.4:c.6004C>T	ENSP00000480593.1:p.Arg2002Cys
ENST00000610817.5:c.7057C>T	ENSP00000480593.2:n.7057C>T
ENST00000673639.2:c.280-2914C>T
ENST00000676696.1:c.7279C>T	ENSP00000503392.1:n.7279C>T
ENST00000678304.1:n.2179C>T
XM_011531127.1:c.6904C>T	XP_011529429.1:p.Arg2302Cys
XM_011531128.1:c.6880C>T	XP_011529430.1:p.Arg2294Cys
XM_011531129.1:c.6826C>T	XP_011529431.1:p.Arg2276Cys
XM_011531130.1:c.6802C>T	XP_011529432.1:p.Arg2268Cys
XM_011531131.1:c.6799C>T	XP_011529433.1:p.Arg2267Cys