Canonical Allele Identifier: CA519706105

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1646164
• ClinVar RCV Id: RCV002136342 ; RCV002363679
• dbSNP Id: rs782667495
• MyVariant Identifiers: chrX:g.153581228C>G (hg19) ; chrX:g.154352860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352860C>G , CM000685.2:g.154352860C>G	GRCh38
NC_000023.10:g.153581228C>G , CM000685.1:g.153581228C>G	GRCh37
NC_000023.9:g.153234422C>G	NCBI36
NG_011506.1:g.26779G>C
NG_011506.2:g.26779G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6267G>C	ENSP00000353467.4:p.Leu2089=
ENST00000369850.10:c.6291G>C MANE Select	ENSP00000358866.3:p.Leu2097=
ENST00000369856.8:c.6210G>C	ENSP00000358872.4:p.Leu2070=
ENST00000422373.6:c.3161-185G>C	ENSP00000416926.2:n.3161-185G>C
ENST00000610817.5:c.6348G>C	ENSP00000480593.2:n.6348G>C
ENST00000673639.2:c.280-4170G>C
ENST00000676696.1:c.6570G>C	ENSP00000503392.1:n.6570G>C
ENST00000678304.1:n.1470G>C
ENST00000344736.8:c.6171G>C	ENSP00000358863.3:p.Leu2057=
ENST00000360319.8:c.6267G>C	ENSP00000353467.4:p.Leu2089=
ENST00000369850.7:c.6291G>C	ENSP00000358866.3:p.Leu2097=
ENST00000369856.7:c.6210G>C	ENSP00000358872.4:p.Leu2070=
ENST00000415241.1:c.493G>C
ENST00000420627.5:c.6247G>C	ENSP00000408921.1:n.6247G>C
ENST00000422373.5:c.6267G>C	ENSP00000416926.1:p.Leu2089=
ENST00000444578.1:c.234G>C	ENSP00000397824.1:p.Leu78=
ENST00000466325.1:n.506G>C
ENST00000490936.5:n.2280G>C
ENST00000498411.1:n.24G>C
ENST00000610817.4:c.5844+533G>C	ENSP00000480593.1:n.5844+533G>C
NM_001110556.1:c.6291G>C	NP_001104026.1:p.Leu2097=
NM_001456.3:c.6267G>C	NP_001447.2:p.Leu2089=
XM_011531127.1:c.6195G>C	XP_011529429.1:p.Leu2065=
XM_011531128.1:c.6171G>C	XP_011529430.1:p.Leu2057=
XM_011531129.1:c.6117G>C	XP_011529431.1:p.Leu2039=
XM_011531130.1:c.6093G>C	XP_011529432.1:p.Leu2031=
XM_011531131.1:c.6090G>C	XP_011529433.1:p.Leu2030=
NM_001110556.2:c.6291G>C MANE Select	NP_001104026.1:p.Leu2097=
NM_001456.4:c.6267G>C	NP_001447.2:p.Leu2089=