Canonical Allele Identifier: CA10560066

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352379C>T , CM000685.2:g.154352379C>T	GRCh38
NC_000023.10:g.153580747C>T , CM000685.1:g.153580747C>T	GRCh37
NC_000023.9:g.153233941C>T	NCBI36
NG_011506.1:g.27260G>A
NG_011506.2:g.27260G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6571G>A MANE Select	NP_001104026.1:p.Val2191Met
ENST00000369850.10:c.6571G>A MANE Select	ENSP00000358866.3:p.Val2191Met
NM_001110556.1:c.6571G>A	NP_001104026.1:p.Val2191Met
NM_001456.3:c.6547G>A	NP_001447.2:p.Val2183Met
NM_001456.4:c.6547G>A	NP_001447.2:p.Val2183Met
ENST00000344736.8:c.6451G>A	ENSP00000358863.3:p.Val2151Met
ENST00000360319.8:c.6547G>A	ENSP00000353467.4:p.Val2183Met
ENST00000360319.9:c.6547G>A	ENSP00000353467.4:p.Val2183Met
ENST00000369850.7:c.6571G>A	ENSP00000358866.3:p.Val2191Met
ENST00000369856.7:c.6490G>A	ENSP00000358872.4:p.Val2164Met
ENST00000369856.8:c.6490G>A	ENSP00000358872.4:p.Val2164Met
ENST00000420627.5:c.6527G>A	ENSP00000408921.1:n.6527G>A
ENST00000422373.5:c.6547G>A	ENSP00000416926.1:p.Val2183Met
ENST00000422373.6:c.3352G>A	ENSP00000416926.2:p.Val1118Met
ENST00000444578.1:c.391G>A	ENSP00000397824.1:p.Val131Met
ENST00000474358.5:n.204G>A
ENST00000490936.5:n.2560G>A
ENST00000498411.1:n.67+438G>A
ENST00000610817.4:c.5845-429G>A	ENSP00000480593.1:n.5845-429G>A
ENST00000610817.5:c.6628G>A	ENSP00000480593.2:n.6628G>A
ENST00000673639.2:c.280-3689G>A
ENST00000676696.1:c.6850G>A	ENSP00000503392.1:n.6850G>A
ENST00000678304.1:n.1750G>A
XM_011531127.1:c.6475G>A	XP_011529429.1:p.Val2159Met
XM_011531128.1:c.6451G>A	XP_011529430.1:p.Val2151Met
XM_011531129.1:c.6397G>A	XP_011529431.1:p.Val2133Met
XM_011531130.1:c.6373G>A	XP_011529432.1:p.Val2125Met
XM_011531131.1:c.6370G>A	XP_011529433.1:p.Val2124Met