Canonical Allele Identifier: CA10559986

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351667C>T , CM000685.2:g.154351667C>T	GRCh38
NC_000023.10:g.153580035C>T , CM000685.1:g.153580035C>T	GRCh37
NC_000023.9:g.153233229C>T	NCBI36
NG_011506.1:g.27972G>A
NG_011506.2:g.27972G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6937G>A MANE Select	NP_001104026.1:p.Glu2313Lys
ENST00000369850.10:c.6937G>A MANE Select	ENSP00000358866.3:p.Glu2313Lys
NM_001110556.1:c.6937G>A	NP_001104026.1:p.Glu2313Lys
NM_001456.3:c.6913G>A	NP_001447.2:p.Glu2305Lys
NM_001456.4:c.6913G>A	NP_001447.2:p.Glu2305Lys
ENST00000344736.8:c.6817G>A	ENSP00000358863.3:p.Glu2273Lys
ENST00000360319.8:c.6913G>A	ENSP00000353467.4:p.Glu2305Lys
ENST00000360319.9:c.6913G>A	ENSP00000353467.4:p.Glu2305Lys
ENST00000369850.7:c.6937G>A	ENSP00000358866.3:p.Glu2313Lys
ENST00000369856.7:c.6856G>A	ENSP00000358872.4:p.Glu2286Lys
ENST00000369856.8:c.6856G>A	ENSP00000358872.4:p.Glu2286Lys
ENST00000420627.5:c.6893G>A	ENSP00000408921.1:n.6893G>A
ENST00000422373.5:c.6913G>A	ENSP00000416926.1:p.Glu2305Lys
ENST00000422373.6:c.3718G>A	ENSP00000416926.2:p.Glu1240Lys
ENST00000444578.1:c.757G>A	ENSP00000397824.1:p.Glu253Lys
ENST00000490936.5:n.2926G>A
ENST00000498411.1:n.67+1150G>A
ENST00000610817.4:c.5941G>A	ENSP00000480593.1:p.Glu1981Lys
ENST00000610817.5:c.6994G>A	ENSP00000480593.2:n.6994G>A
ENST00000673639.2:c.280-2977G>A
ENST00000676696.1:c.7216G>A	ENSP00000503392.1:n.7216G>A
ENST00000678304.1:n.2116G>A
XM_011531127.1:c.6841G>A	XP_011529429.1:p.Glu2281Lys
XM_011531128.1:c.6817G>A	XP_011529430.1:p.Glu2273Lys
XM_011531129.1:c.6763G>A	XP_011529431.1:p.Glu2255Lys
XM_011531130.1:c.6739G>A	XP_011529432.1:p.Glu2247Lys
XM_011531131.1:c.6736G>A	XP_011529433.1:p.Glu2246Lys