Canonical Allele Identifier: CA10560060

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352344A>G , CM000685.2:g.154352344A>G	GRCh38
NC_000023.10:g.153580712A>G , CM000685.1:g.153580712A>G	GRCh37
NC_000023.9:g.153233906A>G	NCBI36
NG_011506.1:g.27295T>C
NG_011506.2:g.27295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6582T>C	ENSP00000353467.4:p.Phe2194=
ENST00000369850.10:c.6606T>C MANE Select	ENSP00000358866.3:p.Phe2202=
ENST00000369856.8:c.6525T>C	ENSP00000358872.4:p.Phe2175=
ENST00000422373.6:c.3387T>C	ENSP00000416926.2:p.Phe1129=
ENST00000610817.5:c.6663T>C	ENSP00000480593.2:n.6663T>C
ENST00000673639.2:c.280-3654T>C
ENST00000676696.1:c.6885T>C	ENSP00000503392.1:n.6885T>C
ENST00000678304.1:n.1785T>C
ENST00000344736.8:c.6486T>C	ENSP00000358863.3:p.Phe2162=
ENST00000360319.8:c.6582T>C	ENSP00000353467.4:p.Phe2194=
ENST00000369850.7:c.6606T>C	ENSP00000358866.3:p.Phe2202=
ENST00000369856.7:c.6525T>C	ENSP00000358872.4:p.Phe2175=
ENST00000420627.5:c.6562T>C	ENSP00000408921.1:n.6562T>C
ENST00000422373.5:c.6582T>C	ENSP00000416926.1:p.Phe2194=
ENST00000444578.1:c.426T>C	ENSP00000397824.1:p.Phe142=
ENST00000474358.5:n.239T>C
ENST00000490936.5:n.2595T>C
ENST00000498411.1:n.67+473T>C
ENST00000610817.4:c.5845-394T>C	ENSP00000480593.1:n.5845-394T>C
NM_001110556.1:c.6606T>C	NP_001104026.1:p.Phe2202=
NM_001456.3:c.6582T>C	NP_001447.2:p.Phe2194=
XM_011531127.1:c.6510T>C	XP_011529429.1:p.Phe2170=
XM_011531128.1:c.6486T>C	XP_011529430.1:p.Phe2162=
XM_011531129.1:c.6432T>C	XP_011529431.1:p.Phe2144=
XM_011531130.1:c.6408T>C	XP_011529432.1:p.Phe2136=
XM_011531131.1:c.6405T>C	XP_011529433.1:p.Phe2135=
NM_001110556.2:c.6606T>C MANE Select	NP_001104026.1:p.Phe2202=
NM_001456.4:c.6582T>C	NP_001447.2:p.Phe2194=