Canonical Allele Identifier: CA10587963

Gene: FLNA

Linked Data

• ClinVar Variation Id: 264256
• ClinVar RCV Id: RCV000249081 ; RCV003765562
• dbSNP Id: rs886039104
• gnomAD v2: X-153577882-A-G
• gnomAD v4: X-154349514-A-G
• MyVariant Identifiers: chrX:g.153577882A>G (hg19) ; chrX:g.154349514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349514A>G , CM000685.2:g.154349514A>G	GRCh38
NC_000023.10:g.153577882A>G , CM000685.1:g.153577882A>G	GRCh37
NC_000023.9:g.153231076A>G	NCBI36
NG_011506.1:g.30125T>C
NG_011506.2:g.30125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7580T>C	ENSP00000353467.4:p.Val2527Ala
ENST00000369850.10:c.7604T>C MANE Select	ENSP00000358866.3:p.Val2535Ala
ENST00000369856.8:c.7523T>C	ENSP00000358872.4:p.Val2508Ala
ENST00000422373.6:c.4385T>C	ENSP00000416926.2:p.Val1462Ala
ENST00000610817.5:c.7661T>C	ENSP00000480593.2:n.7661T>C
ENST00000673639.2:c.280-824T>C
ENST00000676696.1:c.7883T>C	ENSP00000503392.1:n.7883T>C
ENST00000678304.1:n.3322T>C
ENST00000344736.8:c.7484T>C	ENSP00000358863.3:p.Val2495Ala
ENST00000360319.8:c.7580T>C	ENSP00000353467.4:p.Val2527Ala
ENST00000369850.7:c.7604T>C	ENSP00000358866.3:p.Val2535Ala
ENST00000369856.7:c.7523T>C	ENSP00000358872.4:p.Val2508Ala
ENST00000420627.5:c.7560T>C	ENSP00000408921.1:n.7560T>C
ENST00000422373.5:c.7580T>C	ENSP00000416926.1:p.Val2527Ala
ENST00000462590.1:n.759T>C
ENST00000490936.5:n.4833T>C
ENST00000498411.1:n.68-684T>C
ENST00000498491.5:n.645T>C
ENST00000610817.4:c.6608T>C	ENSP00000480593.1:p.Val2203Ala
NM_001110556.1:c.7604T>C	NP_001104026.1:p.Val2535Ala
NM_001456.3:c.7580T>C	NP_001447.2:p.Val2527Ala
XM_011531127.1:c.7508T>C	XP_011529429.1:p.Val2503Ala
XM_011531128.1:c.7484T>C	XP_011529430.1:p.Val2495Ala
XM_011531129.1:c.7430T>C	XP_011529431.1:p.Val2477Ala
XM_011531130.1:c.7406T>C	XP_011529432.1:p.Val2469Ala
XM_011531131.1:c.7403T>C	XP_011529433.1:p.Val2468Ala
NM_001110556.2:c.7604T>C MANE Select	NP_001104026.1:p.Val2535Ala
NM_001456.4:c.7580T>C	NP_001447.2:p.Val2527Ala