Canonical Allele Identifier: CA10560118

Gene: FLNA

Linked Data

• ClinVar Variation Id: 646098
• ClinVar RCV Id: RCV000800317
• dbSNP Id: rs782722036
• ExAC: X:153581209 C / T
• gnomAD v2: X-153581209-C-T
• gnomAD v4: X-154352841-C-T
• MyVariant Identifiers: chrX:g.153581209C>T (hg19) ; chrX:g.154352841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352841C>T , CM000685.2:g.154352841C>T	GRCh38
NC_000023.10:g.153581209C>T , CM000685.1:g.153581209C>T	GRCh37
NC_000023.9:g.153234403C>T	NCBI36
NG_011506.1:g.26798G>A
NG_011506.2:g.26798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6286G>A	ENSP00000353467.4:p.Val2096Ile
ENST00000369850.10:c.6310G>A MANE Select	ENSP00000358866.3:p.Val2104Ile
ENST00000369856.8:c.6229G>A	ENSP00000358872.4:p.Val2077Ile
ENST00000422373.6:c.3161-166G>A	ENSP00000416926.2:n.3161-166G>A
ENST00000610817.5:c.6367G>A	ENSP00000480593.2:n.6367G>A
ENST00000673639.2:c.280-4151G>A
ENST00000676696.1:c.6589G>A	ENSP00000503392.1:n.6589G>A
ENST00000678304.1:n.1489G>A
ENST00000344736.8:c.6190G>A	ENSP00000358863.3:p.Val2064Ile
ENST00000360319.8:c.6286G>A	ENSP00000353467.4:p.Val2096Ile
ENST00000369850.7:c.6310G>A	ENSP00000358866.3:p.Val2104Ile
ENST00000369856.7:c.6229G>A	ENSP00000358872.4:p.Val2077Ile
ENST00000415241.1:c.512G>A
ENST00000420627.5:c.6266G>A	ENSP00000408921.1:n.6266G>A
ENST00000422373.5:c.6286G>A	ENSP00000416926.1:p.Val2096Ile
ENST00000444578.1:c.253G>A	ENSP00000397824.1:p.Val85Ile
ENST00000466325.1:n.525G>A
ENST00000490936.5:n.2299G>A
ENST00000498411.1:n.43G>A
ENST00000610817.4:c.5844+552G>A	ENSP00000480593.1:n.5844+552G>A
NM_001110556.1:c.6310G>A	NP_001104026.1:p.Val2104Ile
NM_001456.3:c.6286G>A	NP_001447.2:p.Val2096Ile
XM_011531127.1:c.6214G>A	XP_011529429.1:p.Val2072Ile
XM_011531128.1:c.6190G>A	XP_011529430.1:p.Val2064Ile
XM_011531129.1:c.6136G>A	XP_011529431.1:p.Val2046Ile
XM_011531130.1:c.6112G>A	XP_011529432.1:p.Val2038Ile
XM_011531131.1:c.6109G>A	XP_011529433.1:p.Val2037Ile
NM_001110556.2:c.6310G>A MANE Select	NP_001104026.1:p.Val2104Ile
NM_001456.4:c.6286G>A	NP_001447.2:p.Val2096Ile