Canonical Allele Identifier: CA10559953

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2936484
• ClinVar RCV Id: RCV003798722
• dbSNP Id: rs782531266
• ExAC: X:153579302 C / T
• gnomAD v2: X-153579302-C-T
• gnomAD v3: X-154350934-C-T
• gnomAD v4: X-154350934-C-T
• MyVariant Identifiers: chrX:g.153579302C>T (hg19) ; chrX:g.154350934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350934C>T , CM000685.2:g.154350934C>T	GRCh38
NC_000023.10:g.153579302C>T , CM000685.1:g.153579302C>T	GRCh37
NC_000023.9:g.153232496C>T	NCBI36
NG_011506.1:g.28705G>A
NG_011506.2:g.28705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7107G>A	ENSP00000353467.4:p.Glu2369=
ENST00000369850.10:c.7131G>A MANE Select	ENSP00000358866.3:p.Glu2377=
ENST00000369856.8:c.7050G>A	ENSP00000358872.4:p.Glu2350=
ENST00000422373.6:c.3912G>A	ENSP00000416926.2:p.Glu1304=
ENST00000610817.5:c.7188G>A	ENSP00000480593.2:n.7188G>A
ENST00000673639.2:c.280-2244G>A
ENST00000676696.1:c.7410G>A	ENSP00000503392.1:n.7410G>A
ENST00000678304.1:n.2849G>A
ENST00000344736.8:c.7011G>A	ENSP00000358863.3:p.Glu2337=
ENST00000360319.8:c.7107G>A	ENSP00000353467.4:p.Glu2369=
ENST00000369850.7:c.7131G>A	ENSP00000358866.3:p.Glu2377=
ENST00000369856.7:c.7050G>A	ENSP00000358872.4:p.Glu2350=
ENST00000420627.5:c.7087G>A	ENSP00000408921.1:n.7087G>A
ENST00000422373.5:c.7107G>A	ENSP00000416926.1:p.Glu2369=
ENST00000490936.5:n.3659G>A
ENST00000498411.1:n.67+1883G>A
ENST00000498491.5:n.172G>A
ENST00000610817.4:c.6135G>A	ENSP00000480593.1:p.Glu2045=
NM_001110556.1:c.7131G>A	NP_001104026.1:p.Glu2377=
NM_001456.3:c.7107G>A	NP_001447.2:p.Glu2369=
XM_011531127.1:c.7035G>A	XP_011529429.1:p.Glu2345=
XM_011531128.1:c.7011G>A	XP_011529430.1:p.Glu2337=
XM_011531129.1:c.6957G>A	XP_011529431.1:p.Glu2319=
XM_011531130.1:c.6933G>A	XP_011529432.1:p.Glu2311=
XM_011531131.1:c.6930G>A	XP_011529433.1:p.Glu2310=
NM_001110556.2:c.7131G>A MANE Select	NP_001104026.1:p.Glu2377=
NM_001456.4:c.7107G>A	NP_001447.2:p.Glu2369=