Canonical Allele Identifier: CA10559957

Gene: FLNA

Linked Data

• ClinVar Variation Id: 498632
• ClinVar RCV Id: RCV000593881 ; RCV001518246 ; RCV001821721 ; RCV002368008 ; RCV004543341
• dbSNP Id: rs782591917
• ExAC: X:153579341 G / T
• gnomAD v2: X-153579341-G-T
• gnomAD v3: X-154350973-G-T
• gnomAD v4: X-154350973-G-T
• MyVariant Identifiers: chrX:g.153579341G>T (hg19) ; chrX:g.154350973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350973G>T , CM000685.2:g.154350973G>T	GRCh38
NC_000023.10:g.153579341G>T , CM000685.1:g.153579341G>T	GRCh37
NC_000023.9:g.153232535G>T	NCBI36
NG_011506.1:g.28666C>A
NG_011506.2:g.28666C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7068C>A	ENSP00000353467.4:p.Ile2356=
ENST00000369850.10:c.7092C>A MANE Select	ENSP00000358866.3:p.Ile2364=
ENST00000369856.8:c.7011C>A	ENSP00000358872.4:p.Ile2337=
ENST00000422373.6:c.3873C>A	ENSP00000416926.2:p.Ile1291=
ENST00000610817.5:c.7149C>A	ENSP00000480593.2:n.7149C>A
ENST00000673639.2:c.280-2283C>A
ENST00000676696.1:c.7371C>A	ENSP00000503392.1:n.7371C>A
ENST00000678304.1:n.2810C>A
ENST00000344736.8:c.6972C>A	ENSP00000358863.3:p.Ile2324=
ENST00000360319.8:c.7068C>A	ENSP00000353467.4:p.Ile2356=
ENST00000369850.7:c.7092C>A	ENSP00000358866.3:p.Ile2364=
ENST00000369856.7:c.7011C>A	ENSP00000358872.4:p.Ile2337=
ENST00000420627.5:c.7048C>A	ENSP00000408921.1:n.7048C>A
ENST00000422373.5:c.7068C>A	ENSP00000416926.1:p.Ile2356=
ENST00000490936.5:n.3620C>A
ENST00000498411.1:n.67+1844C>A
ENST00000498491.5:n.133C>A
ENST00000610817.4:c.6096C>A	ENSP00000480593.1:p.Ile2032=
NM_001110556.1:c.7092C>A	NP_001104026.1:p.Ile2364=
NM_001456.3:c.7068C>A	NP_001447.2:p.Ile2356=
XM_011531127.1:c.6996C>A	XP_011529429.1:p.Ile2332=
XM_011531128.1:c.6972C>A	XP_011529430.1:p.Ile2324=
XM_011531129.1:c.6918C>A	XP_011529431.1:p.Ile2306=
XM_011531130.1:c.6894C>A	XP_011529432.1:p.Ile2298=
XM_011531131.1:c.6891C>A	XP_011529433.1:p.Ile2297=
NM_001110556.2:c.7092C>A MANE Select	NP_001104026.1:p.Ile2364=
NM_001456.4:c.7068C>A	NP_001447.2:p.Ile2356=