Canonical Allele Identifier: CA10559939

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350190A>G , CM000685.2:g.154350190A>G	GRCh38
NC_000023.10:g.153578558A>G , CM000685.1:g.153578558A>G	GRCh37
NC_000023.9:g.153231752A>G	NCBI36
NG_011506.1:g.29449T>C
NG_011506.2:g.29449T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7174T>C MANE Select	NP_001104026.1:p.Phe2392Leu
ENST00000369850.10:c.7174T>C MANE Select	ENSP00000358866.3:p.Phe2392Leu
NM_001110556.1:c.7174T>C	NP_001104026.1:p.Phe2392Leu
NM_001456.3:c.7150T>C	NP_001447.2:p.Phe2384Leu
NM_001456.4:c.7150T>C	NP_001447.2:p.Phe2384Leu
ENST00000344736.8:c.7054T>C	ENSP00000358863.3:p.Phe2352Leu
ENST00000360319.8:c.7150T>C	ENSP00000353467.4:p.Phe2384Leu
ENST00000360319.9:c.7150T>C	ENSP00000353467.4:p.Phe2384Leu
ENST00000369850.7:c.7174T>C	ENSP00000358866.3:p.Phe2392Leu
ENST00000369856.7:c.7093T>C	ENSP00000358872.4:p.Phe2365Leu
ENST00000369856.8:c.7093T>C	ENSP00000358872.4:p.Phe2365Leu
ENST00000420627.5:c.7130T>C	ENSP00000408921.1:n.7130T>C
ENST00000422373.5:c.7150T>C	ENSP00000416926.1:p.Phe2384Leu
ENST00000422373.6:c.3955T>C	ENSP00000416926.2:p.Phe1319Leu
ENST00000462590.1:n.166T>C
ENST00000490936.5:n.4403T>C
ENST00000498411.1:n.68-1360T>C
ENST00000498491.5:n.215T>C
ENST00000610817.4:c.6178T>C	ENSP00000480593.1:p.Phe2060Leu
ENST00000610817.5:c.7231T>C	ENSP00000480593.2:n.7231T>C
ENST00000673639.2:c.280-1500T>C
ENST00000676696.1:c.7453T>C	ENSP00000503392.1:n.7453T>C
ENST00000678304.1:n.2892T>C
XM_011531127.1:c.7078T>C	XP_011529429.1:p.Phe2360Leu
XM_011531128.1:c.7054T>C	XP_011529430.1:p.Phe2352Leu
XM_011531129.1:c.7000T>C	XP_011529431.1:p.Phe2334Leu
XM_011531130.1:c.6976T>C	XP_011529432.1:p.Phe2326Leu
XM_011531131.1:c.6973T>C	XP_011529433.1:p.Phe2325Leu