Canonical Allele Identifier: CA415197284

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2500521
• ClinVar RCV Id: RCV003225433
• dbSNP Id: rs2067636600
• gnomAD v4: X-154353335-C-T
• MyVariant Identifiers: chrX:g.153581703C>T (hg19) ; chrX:g.154353335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353335C>T , CM000685.2:g.154353335C>T	GRCh38
NC_000023.10:g.153581703C>T , CM000685.1:g.153581703C>T	GRCh37
NC_000023.9:g.153234897C>T	NCBI36
NG_011506.1:g.26304G>A
NG_011506.2:g.26304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5959G>A	ENSP00000353467.4:p.Glu1987Lys
ENST00000369850.10:c.5983G>A MANE Select	ENSP00000358866.3:p.Glu1995Lys
ENST00000369856.8:c.5902G>A	ENSP00000358872.4:p.Glu1968Lys
ENST00000422373.6:c.3161-660G>A	ENSP00000416926.2:n.3161-660G>A
ENST00000610817.5:c.6040G>A	ENSP00000480593.2:n.6040G>A
ENST00000673639.2:c.280-4645G>A
ENST00000676696.1:c.6262G>A	ENSP00000503392.1:n.6262G>A
ENST00000678304.1:n.1162G>A
ENST00000344736.8:c.5863G>A	ENSP00000358863.3:p.Glu1955Lys
ENST00000360319.8:c.5959G>A	ENSP00000353467.4:p.Glu1987Lys
ENST00000369850.7:c.5983G>A	ENSP00000358866.3:p.Glu1995Lys
ENST00000369856.7:c.5902G>A	ENSP00000358872.4:p.Glu1968Lys
ENST00000415241.1:c.168G>A
ENST00000420627.5:c.5939G>A	ENSP00000408921.1:n.5939G>A
ENST00000422373.5:c.5959G>A	ENSP00000416926.1:p.Glu1987Lys
ENST00000438732.2:c.657G>A
ENST00000466325.1:n.122G>A
ENST00000490936.5:n.1972G>A
ENST00000610817.4:c.5844+58G>A	ENSP00000480593.1:n.5844+58G>A
NM_001110556.1:c.5983G>A	NP_001104026.1:p.Glu1995Lys
NM_001456.3:c.5959G>A	NP_001447.2:p.Glu1987Lys
XM_011531127.1:c.5887G>A	XP_011529429.1:p.Glu1963Lys
XM_011531128.1:c.5863G>A	XP_011529430.1:p.Glu1955Lys
XM_011531129.1:c.5809G>A	XP_011529431.1:p.Glu1937Lys
XM_011531130.1:c.5785G>A	XP_011529432.1:p.Glu1929Lys
XM_011531131.1:c.5782G>A	XP_011529433.1:p.Glu1928Lys
NM_001110556.2:c.5983G>A MANE Select	NP_001104026.1:p.Glu1995Lys
NM_001456.4:c.5959G>A	NP_001447.2:p.Glu1987Lys