Canonical Allele Identifier: CA10560147

Gene: FLNA

Linked Data

• ClinVar Variation Id: 533579
• ClinVar RCV Id: RCV000640749 ; RCV001558930 ; RCV003994056
• dbSNP Id: rs371611462
• ExAC: X:153581375 C / T
• gnomAD v2: X-153581375-C-T
• gnomAD v3: X-154353007-C-T
• gnomAD v4: X-154353007-C-T
• MyVariant Identifiers: chrX:g.153581375C>T (hg19) ; chrX:g.154353007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353007C>T , CM000685.2:g.154353007C>T	GRCh38
NC_000023.10:g.153581375C>T , CM000685.1:g.153581375C>T	GRCh37
NC_000023.9:g.153234569C>T	NCBI36
NG_011506.1:g.26632G>A
NG_011506.2:g.26632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6196G>A	ENSP00000353467.4:p.Asp2066Asn
ENST00000369850.10:c.6220G>A MANE Select	ENSP00000358866.3:p.Asp2074Asn
ENST00000369856.8:c.6139G>A	ENSP00000358872.4:p.Asp2047Asn
ENST00000422373.6:c.3161-332G>A	ENSP00000416926.2:n.3161-332G>A
ENST00000610817.5:c.6277G>A	ENSP00000480593.2:n.6277G>A
ENST00000673639.2:c.280-4317G>A
ENST00000676696.1:c.6499G>A	ENSP00000503392.1:n.6499G>A
ENST00000678304.1:n.1399G>A
ENST00000344736.8:c.6100G>A	ENSP00000358863.3:p.Asp2034Asn
ENST00000360319.8:c.6196G>A	ENSP00000353467.4:p.Asp2066Asn
ENST00000369850.7:c.6220G>A	ENSP00000358866.3:p.Asp2074Asn
ENST00000369856.7:c.6139G>A	ENSP00000358872.4:p.Asp2047Asn
ENST00000415241.1:c.422G>A
ENST00000420627.5:c.6176G>A	ENSP00000408921.1:n.6176G>A
ENST00000422373.5:c.6196G>A	ENSP00000416926.1:p.Asp2066Asn
ENST00000444578.1:c.163G>A	ENSP00000397824.1:p.Asp55Asn
ENST00000466325.1:n.359G>A
ENST00000490936.5:n.2209G>A
ENST00000610817.4:c.5844+386G>A	ENSP00000480593.1:n.5844+386G>A
NM_001110556.1:c.6220G>A	NP_001104026.1:p.Asp2074Asn
NM_001456.3:c.6196G>A	NP_001447.2:p.Asp2066Asn
XM_011531127.1:c.6124G>A	XP_011529429.1:p.Asp2042Asn
XM_011531128.1:c.6100G>A	XP_011529430.1:p.Asp2034Asn
XM_011531129.1:c.6046G>A	XP_011529431.1:p.Asp2016Asn
XM_011531130.1:c.6022G>A	XP_011529432.1:p.Asp2008Asn
XM_011531131.1:c.6019G>A	XP_011529433.1:p.Asp2007Asn
NM_001110556.2:c.6220G>A MANE Select	NP_001104026.1:p.Asp2074Asn
NM_001456.4:c.6196G>A	NP_001447.2:p.Asp2066Asn