Canonical Allele Identifier: CA10559889

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349750C>T , CM000685.2:g.154349750C>T	GRCh38
NC_000023.10:g.153578118C>T , CM000685.1:g.153578118C>T	GRCh37
NC_000023.9:g.153231312C>T	NCBI36
NG_011506.1:g.29889G>A
NG_011506.2:g.29889G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7451G>A MANE Select	NP_001104026.1:p.Arg2484His
ENST00000369850.10:c.7451G>A MANE Select	ENSP00000358866.3:p.Arg2484His
NM_001110556.1:c.7451G>A	NP_001104026.1:p.Arg2484His
NM_001456.3:c.7427G>A	NP_001447.2:p.Arg2476His
NM_001456.4:c.7427G>A	NP_001447.2:p.Arg2476His
ENST00000344736.8:c.7331G>A	ENSP00000358863.3:p.Arg2444His
ENST00000360319.8:c.7427G>A	ENSP00000353467.4:p.Arg2476His
ENST00000360319.9:c.7427G>A	ENSP00000353467.4:p.Arg2476His
ENST00000369850.7:c.7451G>A	ENSP00000358866.3:p.Arg2484His
ENST00000369856.7:c.7370G>A	ENSP00000358872.4:p.Arg2457His
ENST00000369856.8:c.7370G>A	ENSP00000358872.4:p.Arg2457His
ENST00000420627.5:c.7407G>A	ENSP00000408921.1:n.7407G>A
ENST00000422373.5:c.7427G>A	ENSP00000416926.1:p.Arg2476His
ENST00000422373.6:c.4232G>A	ENSP00000416926.2:p.Arg1411His
ENST00000462590.1:n.606G>A
ENST00000490936.5:n.4680G>A
ENST00000498411.1:n.68-920G>A
ENST00000498491.5:n.492G>A
ENST00000610817.4:c.6455G>A	ENSP00000480593.1:p.Arg2152His
ENST00000610817.5:c.7508G>A	ENSP00000480593.2:n.7508G>A
ENST00000673639.2:c.280-1060G>A
ENST00000676696.1:c.7730G>A	ENSP00000503392.1:n.7730G>A
ENST00000678304.1:n.3169G>A
XM_011531127.1:c.7355G>A	XP_011529429.1:p.Arg2452His
XM_011531128.1:c.7331G>A	XP_011529430.1:p.Arg2444His
XM_011531129.1:c.7277G>A	XP_011529431.1:p.Arg2426His
XM_011531130.1:c.7253G>A	XP_011529432.1:p.Arg2418His
XM_011531131.1:c.7250G>A	XP_011529433.1:p.Arg2417His