Canonical Allele Identifier: CA10560308

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354247T>C , CM000685.2:g.154354247T>C	GRCh38
NC_000023.10:g.153582615T>C , CM000685.1:g.153582615T>C	GRCh37
NC_000023.9:g.153235809T>C	NCBI36
NG_011506.1:g.25392A>G
NG_011506.2:g.25392A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5461A>G MANE Select	NP_001104026.1:p.Thr1821Ala
ENST00000369850.10:c.5461A>G MANE Select	ENSP00000358866.3:p.Thr1821Ala
NM_001110556.1:c.5461A>G	NP_001104026.1:p.Thr1821Ala
NM_001456.3:c.5437A>G	NP_001447.2:p.Thr1813Ala
NM_001456.4:c.5437A>G	NP_001447.2:p.Thr1813Ala
ENST00000344736.8:c.5341A>G	ENSP00000358863.3:p.Thr1781Ala
ENST00000360319.8:c.5437A>G	ENSP00000353467.4:p.Thr1813Ala
ENST00000360319.9:c.5437A>G	ENSP00000353467.4:p.Thr1813Ala
ENST00000369850.7:c.5461A>G	ENSP00000358866.3:p.Thr1821Ala
ENST00000369856.7:c.5380A>G	ENSP00000358872.4:p.Thr1794Ala
ENST00000369856.8:c.5380A>G	ENSP00000358872.4:p.Thr1794Ala
ENST00000420627.5:c.5417A>G	ENSP00000408921.1:n.5417A>G
ENST00000422373.5:c.5437A>G	ENSP00000416926.1:p.Thr1813Ala
ENST00000422373.6:c.3161-1572A>G	ENSP00000416926.2:n.3161-1572A>G
ENST00000438732.2:c.309A>G
ENST00000474072.1:n.213A>G
ENST00000490936.5:n.1450A>G
ENST00000610817.4:c.5380A>G	ENSP00000480593.1:p.Thr1794Ala
ENST00000610817.5:c.5518A>G	ENSP00000480593.2:n.5518A>G
ENST00000673639.2:c.280-5557A>G
ENST00000676696.1:c.5740A>G	ENSP00000503392.1:n.5740A>G
ENST00000678304.1:n.640A>G
XM_011531127.1:c.5365A>G	XP_011529429.1:p.Thr1789Ala
XM_011531128.1:c.5341A>G	XP_011529430.1:p.Thr1781Ala
XM_011531129.1:c.5461A>G	XP_011529431.1:p.Thr1821Ala
XM_011531130.1:c.5437A>G	XP_011529432.1:p.Thr1813Ala
XM_011531131.1:c.5260A>G	XP_011529433.1:p.Thr1754Ala