Canonical Allele Identifier: CA10560192

Gene: FLNA

Linked Data

• ClinVar Variation Id: 590240
• ClinVar RCV Id: RCV001567508 ; RCV001514074 ; RCV002318884 ; RCV004535801
• dbSNP Id: rs371616686
• ExAC: X:153581709 G / A
• gnomAD v2: X-153581709-G-A
• gnomAD v3: X-154353341-G-A
• gnomAD v4: X-154353341-G-A
• COSMIC: COSM3033915 ; COSM3033916
• MyVariant Identifiers: chrX:g.153581709G>A (hg19) ; chrX:g.154353341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353341G>A , CM000685.2:g.154353341G>A	GRCh38
NC_000023.10:g.153581709G>A , CM000685.1:g.153581709G>A	GRCh37
NC_000023.9:g.153234903G>A	NCBI36
NG_011506.1:g.26298C>T
NG_011506.2:g.26298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5953C>T	ENSP00000353467.4:p.Arg1985Trp
ENST00000369850.10:c.5977C>T MANE Select	ENSP00000358866.3:p.Arg1993Trp
ENST00000369856.8:c.5896C>T	ENSP00000358872.4:p.Arg1966Trp
ENST00000422373.6:c.3161-666C>T	ENSP00000416926.2:n.3161-666C>T
ENST00000610817.5:c.6034C>T	ENSP00000480593.2:n.6034C>T
ENST00000673639.2:c.280-4651C>T
ENST00000676696.1:c.6256C>T	ENSP00000503392.1:n.6256C>T
ENST00000678304.1:n.1156C>T
ENST00000344736.8:c.5857C>T	ENSP00000358863.3:p.Arg1953Trp
ENST00000360319.8:c.5953C>T	ENSP00000353467.4:p.Arg1985Trp
ENST00000369850.7:c.5977C>T	ENSP00000358866.3:p.Arg1993Trp
ENST00000369856.7:c.5896C>T	ENSP00000358872.4:p.Arg1966Trp
ENST00000415241.1:c.162C>T
ENST00000420627.5:c.5933C>T	ENSP00000408921.1:n.5933C>T
ENST00000422373.5:c.5953C>T	ENSP00000416926.1:p.Arg1985Trp
ENST00000438732.2:c.651C>T
ENST00000466325.1:n.116C>T
ENST00000490936.5:n.1966C>T
ENST00000610817.4:c.5844+52C>T	ENSP00000480593.1:n.5844+52C>T
NM_001110556.1:c.5977C>T	NP_001104026.1:p.Arg1993Trp
NM_001456.3:c.5953C>T	NP_001447.2:p.Arg1985Trp
XM_011531127.1:c.5881C>T	XP_011529429.1:p.Arg1961Trp
XM_011531128.1:c.5857C>T	XP_011529430.1:p.Arg1953Trp
XM_011531129.1:c.5803C>T	XP_011529431.1:p.Arg1935Trp
XM_011531130.1:c.5779C>T	XP_011529432.1:p.Arg1927Trp
XM_011531131.1:c.5776C>T	XP_011529433.1:p.Arg1926Trp
NM_001110556.2:c.5977C>T MANE Select	NP_001104026.1:p.Arg1993Trp
NM_001456.4:c.5953C>T	NP_001447.2:p.Arg1985Trp