Canonical Allele Identifier: CA415206615

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354671C>T , CM000685.2:g.154354671C>T	GRCh38
NC_000023.10:g.153583039C>T , CM000685.1:g.153583039C>T	GRCh37
NC_000023.9:g.153236233C>T	NCBI36
NG_011506.1:g.24968G>A
NG_011506.2:g.24968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5234G>A	ENSP00000353467.4:p.Arg1745Gln
ENST00000369850.10:c.5258G>A MANE Select	ENSP00000358866.3:p.Arg1753Gln
ENST00000369856.8:c.5177G>A	ENSP00000358872.4:p.Arg1726Gln
ENST00000422373.6:c.3161-1996G>A	ENSP00000416926.2:n.3161-1996G>A
ENST00000610817.5:c.5315G>A	ENSP00000480593.2:n.5315G>A
ENST00000673639.2:c.280-5981G>A
ENST00000676696.1:c.5537G>A	ENSP00000503392.1:n.5537G>A
ENST00000678304.1:n.437G>A
ENST00000344736.8:c.5193+154G>A	ENSP00000358863.3:n.5193+154G>A
ENST00000360319.8:c.5234G>A	ENSP00000353467.4:p.Arg1745Gln
ENST00000369850.7:c.5258G>A	ENSP00000358866.3:p.Arg1753Gln
ENST00000369856.7:c.5177G>A	ENSP00000358872.4:p.Arg1726Gln
ENST00000420627.5:c.5214G>A	ENSP00000408921.1:n.5214G>A
ENST00000422373.5:c.5234G>A	ENSP00000416926.1:p.Arg1745Gln
ENST00000438732.2:c.106G>A
ENST00000474072.1:n.10G>A
ENST00000490936.5:n.1247G>A
ENST00000610817.4:c.5177G>A	ENSP00000480593.1:p.Arg1726Gln
NM_001110556.1:c.5258G>A	NP_001104026.1:p.Arg1753Gln
NM_001456.3:c.5234G>A	NP_001447.2:p.Arg1745Gln
XM_011531127.1:c.5217+154G>A	XP_011529429.1:n.5217+154G>A
XM_011531128.1:c.5193+154G>A	XP_011529430.1:n.5193+154G>A
XM_011531129.1:c.5258G>A	XP_011529431.1:p.Arg1753Gln
XM_011531130.1:c.5234G>A	XP_011529432.1:p.Arg1745Gln
XM_011531131.1:c.5057G>A	XP_011529433.1:p.Arg1686Gln
NM_001110556.2:c.5258G>A MANE Select	NP_001104026.1:p.Arg1753Gln
NM_001456.4:c.5234G>A	NP_001447.2:p.Arg1745Gln