Canonical Allele Identifier: CA415197022

Gene: FLNA

Linked Data

• ClinVar Variation Id: 975703
• ClinVar RCV Id: RCV001252500
• dbSNP Id: rs1182812659
• gnomAD v3: X-154353310-C-T
• gnomAD v4: X-154353310-C-T
• COSMIC: COSM3033913 ; COSM3033914
• MyVariant Identifiers: chrX:g.153581678C>T (hg19) ; chrX:g.154353310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353310C>T , CM000685.2:g.154353310C>T	GRCh38
NC_000023.10:g.153581678C>T , CM000685.1:g.153581678C>T	GRCh37
NC_000023.9:g.153234872C>T	NCBI36
NG_011506.1:g.26329G>A
NG_011506.2:g.26329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5984G>A	ENSP00000353467.4:p.Arg1995His
ENST00000369850.10:c.6008G>A MANE Select	ENSP00000358866.3:p.Arg2003His
ENST00000369856.8:c.5927G>A	ENSP00000358872.4:p.Arg1976His
ENST00000422373.6:c.3161-635G>A	ENSP00000416926.2:n.3161-635G>A
ENST00000610817.5:c.6065G>A	ENSP00000480593.2:n.6065G>A
ENST00000673639.2:c.280-4620G>A
ENST00000676696.1:c.6287G>A	ENSP00000503392.1:n.6287G>A
ENST00000678304.1:n.1187G>A
ENST00000344736.8:c.5888G>A	ENSP00000358863.3:p.Arg1963His
ENST00000360319.8:c.5984G>A	ENSP00000353467.4:p.Arg1995His
ENST00000369850.7:c.6008G>A	ENSP00000358866.3:p.Arg2003His
ENST00000369856.7:c.5927G>A	ENSP00000358872.4:p.Arg1976His
ENST00000415241.1:c.193G>A
ENST00000420627.5:c.5964G>A	ENSP00000408921.1:n.5964G>A
ENST00000422373.5:c.5984G>A	ENSP00000416926.1:p.Arg1995His
ENST00000438732.2:c.682G>A
ENST00000466325.1:n.147G>A
ENST00000490936.5:n.1997G>A
ENST00000610817.4:c.5844+83G>A	ENSP00000480593.1:n.5844+83G>A
NM_001110556.1:c.6008G>A	NP_001104026.1:p.Arg2003His
NM_001456.3:c.5984G>A	NP_001447.2:p.Arg1995His
XM_011531127.1:c.5912G>A	XP_011529429.1:p.Arg1971His
XM_011531128.1:c.5888G>A	XP_011529430.1:p.Arg1963His
XM_011531129.1:c.5834G>A	XP_011529431.1:p.Arg1945His
XM_011531130.1:c.5810G>A	XP_011529432.1:p.Arg1937His
XM_011531131.1:c.5807G>A	XP_011529433.1:p.Arg1936His
NM_001110556.2:c.6008G>A MANE Select	NP_001104026.1:p.Arg2003His
NM_001456.4:c.5984G>A	NP_001447.2:p.Arg1995His