Canonical Allele Identifier: CA221730

Gene: FLNA

Linked Data

• ClinVar Variation Id: 93774
• ClinVar RCV Id: RCV000079712 ; RCV003764759
• dbSNP Id: rs398123624
• MyVariant Identifiers: chrX:g.153577815G>A (hg19) ; chrX:g.154349447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349447G>A , CM000685.2:g.154349447G>A	GRCh38
NC_000023.10:g.153577815G>A , CM000685.1:g.153577815G>A	GRCh37
NC_000023.9:g.153231009G>A	NCBI36
NG_011506.1:g.30192C>T
NG_011506.2:g.30192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7647C>T	ENSP00000353467.4:p.Ala2549=
ENST00000369850.10:c.7671C>T MANE Select	ENSP00000358866.3:p.Ala2557=
ENST00000369856.8:c.7590C>T	ENSP00000358872.4:p.Ala2530=
ENST00000422373.6:c.4452C>T	ENSP00000416926.2:p.Ala1484=
ENST00000610817.5:c.7728C>T	ENSP00000480593.2:n.7728C>T
ENST00000673639.2:c.280-757C>T
ENST00000676696.1:c.7950C>T	ENSP00000503392.1:n.7950C>T
ENST00000678304.1:n.3389C>T
ENST00000344736.8:c.7551C>T	ENSP00000358863.3:p.Ala2517=
ENST00000360319.8:c.7647C>T	ENSP00000353467.4:p.Ala2549=
ENST00000369850.7:c.7671C>T	ENSP00000358866.3:p.Ala2557=
ENST00000369856.7:c.7590C>T	ENSP00000358872.4:p.Ala2530=
ENST00000420627.5:c.7627C>T	ENSP00000408921.1:n.7627C>T
ENST00000422373.5:c.7647C>T	ENSP00000416926.1:p.Ala2549=
ENST00000462590.1:n.826C>T
ENST00000490936.5:n.4900C>T
ENST00000498411.1:n.68-617C>T
ENST00000498491.5:n.712C>T
ENST00000610817.4:c.6675C>T	ENSP00000480593.1:p.Ala2225=
NM_001110556.1:c.7671C>T	NP_001104026.1:p.Ala2557=
NM_001456.3:c.7647C>T	NP_001447.2:p.Ala2549=
XM_011531127.1:c.7575C>T	XP_011529429.1:p.Ala2525=
XM_011531128.1:c.7551C>T	XP_011529430.1:p.Ala2517=
XM_011531129.1:c.7497C>T	XP_011529431.1:p.Ala2499=
XM_011531130.1:c.7473C>T	XP_011529432.1:p.Ala2491=
XM_011531131.1:c.7470C>T	XP_011529433.1:p.Ala2490=
NM_001110556.2:c.7671C>T MANE Select	NP_001104026.1:p.Ala2557=
NM_001456.4:c.7647C>T	NP_001447.2:p.Ala2549=