Canonical Allele Identifier: CA10560380

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354886T>C , CM000685.2:g.154354886T>C	GRCh38
NC_000023.10:g.153583254T>C , CM000685.1:g.153583254T>C	GRCh37
NC_000023.9:g.153236448T>C	NCBI36
NG_011506.1:g.24753A>G
NG_011506.2:g.24753A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5156A>G MANE Select	NP_001104026.1:p.Lys1719Arg
ENST00000369850.10:c.5156A>G MANE Select	ENSP00000358866.3:p.Lys1719Arg
NM_001110556.1:c.5156A>G	NP_001104026.1:p.Lys1719Arg
NM_001456.3:c.5132A>G	NP_001447.2:p.Lys1711Arg
NM_001456.4:c.5132A>G	NP_001447.2:p.Lys1711Arg
ENST00000344736.8:c.5132A>G	ENSP00000358863.3:p.Lys1711Arg
ENST00000360319.8:c.5132A>G	ENSP00000353467.4:p.Lys1711Arg
ENST00000360319.9:c.5132A>G	ENSP00000353467.4:p.Lys1711Arg
ENST00000369850.7:c.5156A>G	ENSP00000358866.3:p.Lys1719Arg
ENST00000369856.7:c.5075A>G	ENSP00000358872.4:p.Lys1692Arg
ENST00000369856.8:c.5075A>G	ENSP00000358872.4:p.Lys1692Arg
ENST00000420627.5:c.5112A>G	ENSP00000408921.1:n.5112A>G
ENST00000422373.5:c.5132A>G	ENSP00000416926.1:p.Lys1711Arg
ENST00000422373.6:c.3161-2211A>G	ENSP00000416926.2:n.3161-2211A>G
ENST00000438732.2:c.4A>G
ENST00000490936.5:n.1145A>G
ENST00000610817.4:c.5075A>G	ENSP00000480593.1:p.Lys1692Arg
ENST00000610817.5:c.5213A>G	ENSP00000480593.2:n.5213A>G
ENST00000673639.2:c.280-6196A>G
ENST00000676696.1:c.5435A>G	ENSP00000503392.1:n.5435A>G
ENST00000678304.1:n.335A>G
XM_011531127.1:c.5156A>G	XP_011529429.1:p.Lys1719Arg
XM_011531128.1:c.5132A>G	XP_011529430.1:p.Lys1711Arg
XM_011531129.1:c.5156A>G	XP_011529431.1:p.Lys1719Arg
XM_011531130.1:c.5132A>G	XP_011529432.1:p.Lys1711Arg
XM_011531131.1:c.4955A>G	XP_011529433.1:p.Lys1652Arg