Canonical Allele Identifier: CA10560299

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354216C>T , CM000685.2:g.154354216C>T	GRCh38
NC_000023.10:g.153582584C>T , CM000685.1:g.153582584C>T	GRCh37
NC_000023.9:g.153235778C>T	NCBI36
NG_011506.1:g.25423G>A
NG_011506.2:g.25423G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5492G>A MANE Select	NP_001104026.1:p.Arg1831Gln
ENST00000369850.10:c.5492G>A MANE Select	ENSP00000358866.3:p.Arg1831Gln
NM_001110556.1:c.5492G>A	NP_001104026.1:p.Arg1831Gln
NM_001456.3:c.5468G>A	NP_001447.2:p.Arg1823Gln
NM_001456.4:c.5468G>A	NP_001447.2:p.Arg1823Gln
ENST00000344736.8:c.5372G>A	ENSP00000358863.3:p.Arg1791Gln
ENST00000360319.8:c.5468G>A	ENSP00000353467.4:p.Arg1823Gln
ENST00000360319.9:c.5468G>A	ENSP00000353467.4:p.Arg1823Gln
ENST00000369850.7:c.5492G>A	ENSP00000358866.3:p.Arg1831Gln
ENST00000369856.7:c.5411G>A	ENSP00000358872.4:p.Arg1804Gln
ENST00000369856.8:c.5411G>A	ENSP00000358872.4:p.Arg1804Gln
ENST00000420627.5:c.5448G>A	ENSP00000408921.1:n.5448G>A
ENST00000422373.5:c.5468G>A	ENSP00000416926.1:p.Arg1823Gln
ENST00000422373.6:c.3161-1541G>A	ENSP00000416926.2:n.3161-1541G>A
ENST00000438732.2:c.340G>A
ENST00000474072.1:n.244G>A
ENST00000490936.5:n.1481G>A
ENST00000610817.4:c.5411G>A	ENSP00000480593.1:p.Arg1804Gln
ENST00000610817.5:c.5549G>A	ENSP00000480593.2:n.5549G>A
ENST00000673639.2:c.280-5526G>A
ENST00000676696.1:c.5771G>A	ENSP00000503392.1:n.5771G>A
ENST00000678304.1:n.671G>A
XM_011531127.1:c.5396G>A	XP_011529429.1:p.Arg1799Gln
XM_011531128.1:c.5372G>A	XP_011529430.1:p.Arg1791Gln
XM_011531129.1:c.5492G>A	XP_011529431.1:p.Arg1831Gln
XM_011531130.1:c.5468G>A	XP_011529432.1:p.Arg1823Gln
XM_011531131.1:c.5291G>A	XP_011529433.1:p.Arg1764Gln