Canonical Allele Identifier: CA519706899

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2946594
• ClinVar RCV Id: RCV003808832
• MyVariant Identifiers: chrX:g.153581701C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353333C>T , CM000685.2:g.154353333C>T	GRCh38
NC_000023.10:g.153581701C>T , CM000685.1:g.153581701C>T	GRCh37
NC_000023.9:g.153234895C>T	NCBI36
NG_011506.1:g.26306G>A
NG_011506.2:g.26306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5961G>A	ENSP00000353467.4:p.Glu1987=
ENST00000369850.10:c.5985G>A MANE Select	ENSP00000358866.3:p.Glu1995=
ENST00000369856.8:c.5904G>A	ENSP00000358872.4:p.Glu1968=
ENST00000422373.6:c.3161-658G>A	ENSP00000416926.2:n.3161-658G>A
ENST00000610817.5:c.6042G>A	ENSP00000480593.2:n.6042G>A
ENST00000673639.2:c.280-4643G>A
ENST00000676696.1:c.6264G>A	ENSP00000503392.1:n.6264G>A
ENST00000678304.1:n.1164G>A
ENST00000344736.8:c.5865G>A	ENSP00000358863.3:p.Glu1955=
ENST00000360319.8:c.5961G>A	ENSP00000353467.4:p.Glu1987=
ENST00000369850.7:c.5985G>A	ENSP00000358866.3:p.Glu1995=
ENST00000369856.7:c.5904G>A	ENSP00000358872.4:p.Glu1968=
ENST00000415241.1:c.170G>A
ENST00000420627.5:c.5941G>A	ENSP00000408921.1:n.5941G>A
ENST00000422373.5:c.5961G>A	ENSP00000416926.1:p.Glu1987=
ENST00000438732.2:c.659G>A
ENST00000466325.1:n.124G>A
ENST00000490936.5:n.1974G>A
ENST00000610817.4:c.5844+60G>A	ENSP00000480593.1:n.5844+60G>A
NM_001110556.1:c.5985G>A	NP_001104026.1:p.Glu1995=
NM_001456.3:c.5961G>A	NP_001447.2:p.Glu1987=
XM_011531127.1:c.5889G>A	XP_011529429.1:p.Glu1963=
XM_011531128.1:c.5865G>A	XP_011529430.1:p.Glu1955=
XM_011531129.1:c.5811G>A	XP_011529431.1:p.Glu1937=
XM_011531130.1:c.5787G>A	XP_011529432.1:p.Glu1929=
XM_011531131.1:c.5784G>A	XP_011529433.1:p.Glu1928=
NM_001110556.2:c.5985G>A MANE Select	NP_001104026.1:p.Glu1995=
NM_001456.4:c.5961G>A	NP_001447.2:p.Glu1987=