Canonical Allele Identifier: CA322914

Gene: FLNA

Linked Data

• ClinVar Variation Id: 213478
• ClinVar RCV Id: RCV000198414 ; RCV002517179
• dbSNP Id: rs781809353
• ExAC: X:153582382 C / T
• gnomAD v2: X-153582382-C-T
• gnomAD v3: X-154354014-C-T
• gnomAD v4: X-154354014-C-T
• MyVariant Identifiers: chrX:g.153582382C>T (hg19) ; chrX:g.154354014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354014C>T , CM000685.2:g.154354014C>T	GRCh38
NC_000023.10:g.153582382C>T , CM000685.1:g.153582382C>T	GRCh37
NC_000023.9:g.153235576C>T	NCBI36
NG_011506.1:g.25625G>A
NG_011506.2:g.25625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5563G>A	ENSP00000353467.4:p.Val1855Ile
ENST00000369850.10:c.5587G>A MANE Select	ENSP00000358866.3:p.Val1863Ile
ENST00000369856.8:c.5506G>A	ENSP00000358872.4:p.Val1836Ile
ENST00000422373.6:c.3161-1339G>A	ENSP00000416926.2:n.3161-1339G>A
ENST00000610817.5:c.5644G>A	ENSP00000480593.2:n.5644G>A
ENST00000673639.2:c.280-5324G>A
ENST00000676696.1:c.5866G>A	ENSP00000503392.1:n.5866G>A
ENST00000678304.1:n.766G>A
ENST00000344736.8:c.5467G>A	ENSP00000358863.3:p.Val1823Ile
ENST00000360319.8:c.5563G>A	ENSP00000353467.4:p.Val1855Ile
ENST00000369850.7:c.5587G>A	ENSP00000358866.3:p.Val1863Ile
ENST00000369856.7:c.5506G>A	ENSP00000358872.4:p.Val1836Ile
ENST00000420627.5:c.5543G>A	ENSP00000408921.1:n.5543G>A
ENST00000422373.5:c.5563G>A	ENSP00000416926.1:p.Val1855Ile
ENST00000438732.2:c.435G>A
ENST00000490936.5:n.1576G>A
ENST00000610817.4:c.5506G>A	ENSP00000480593.1:p.Val1836Ile
NM_001110556.1:c.5587G>A	NP_001104026.1:p.Val1863Ile
NM_001456.3:c.5563G>A	NP_001447.2:p.Val1855Ile
XM_011531127.1:c.5491G>A	XP_011529429.1:p.Val1831Ile
XM_011531128.1:c.5467G>A	XP_011529430.1:p.Val1823Ile
XM_011531129.1:c.5587G>A	XP_011529431.1:p.Val1863Ile
XM_011531130.1:c.5563G>A	XP_011529432.1:p.Val1855Ile
XM_011531131.1:c.5386G>A	XP_011529433.1:p.Val1796Ile
NM_001110556.2:c.5587G>A MANE Select	NP_001104026.1:p.Val1863Ile
NM_001456.4:c.5563G>A	NP_001447.2:p.Val1855Ile