Canonical Allele Identifier: CA10560311

Gene: FLNA

Linked Data

• ClinVar Variation Id: 281758
• ClinVar RCV Id: RCV000387082 ; RCV001407250 ; RCV004021087 ; RCV004542992
• dbSNP Id: rs782806731
• ExAC: X:153582628 C / T
• gnomAD v2: X-153582628-C-T
• gnomAD v4: X-154354260-C-T
• MyVariant Identifiers: chrX:g.153582628C>T (hg19) ; chrX:g.154354260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354260C>T , CM000685.2:g.154354260C>T	GRCh38
NC_000023.10:g.153582628C>T , CM000685.1:g.153582628C>T	GRCh37
NC_000023.9:g.153235822C>T	NCBI36
NG_011506.1:g.25379G>A
NG_011506.2:g.25379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5424G>A	ENSP00000353467.4:p.Ala1808=
ENST00000369850.10:c.5448G>A MANE Select	ENSP00000358866.3:p.Ala1816=
ENST00000369856.8:c.5367G>A	ENSP00000358872.4:p.Ala1789=
ENST00000422373.6:c.3161-1585G>A	ENSP00000416926.2:n.3161-1585G>A
ENST00000610817.5:c.5505G>A	ENSP00000480593.2:n.5505G>A
ENST00000673639.2:c.280-5570G>A
ENST00000676696.1:c.5727G>A	ENSP00000503392.1:n.5727G>A
ENST00000678304.1:n.627G>A
ENST00000344736.8:c.5328G>A	ENSP00000358863.3:p.Ala1776=
ENST00000360319.8:c.5424G>A	ENSP00000353467.4:p.Ala1808=
ENST00000369850.7:c.5448G>A	ENSP00000358866.3:p.Ala1816=
ENST00000369856.7:c.5367G>A	ENSP00000358872.4:p.Ala1789=
ENST00000420627.5:c.5404G>A	ENSP00000408921.1:n.5404G>A
ENST00000422373.5:c.5424G>A	ENSP00000416926.1:p.Ala1808=
ENST00000438732.2:c.296G>A
ENST00000474072.1:n.200G>A
ENST00000490936.5:n.1437G>A
ENST00000610817.4:c.5367G>A	ENSP00000480593.1:p.Ala1789=
NM_001110556.1:c.5448G>A	NP_001104026.1:p.Ala1816=
NM_001456.3:c.5424G>A	NP_001447.2:p.Ala1808=
XM_011531127.1:c.5352G>A	XP_011529429.1:p.Ala1784=
XM_011531128.1:c.5328G>A	XP_011529430.1:p.Ala1776=
XM_011531129.1:c.5448G>A	XP_011529431.1:p.Ala1816=
XM_011531130.1:c.5424G>A	XP_011529432.1:p.Ala1808=
XM_011531131.1:c.5247G>A	XP_011529433.1:p.Ala1749=
NM_001110556.2:c.5448G>A MANE Select	NP_001104026.1:p.Ala1816=
NM_001456.4:c.5424G>A	NP_001447.2:p.Ala1808=