Canonical Allele Identifier: CA10560125

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1311512
• ClinVar RCV Id: RCV001752495 ; RCV003772012
• dbSNP Id: rs781962577
• ExAC: X:153581233 C / T
• gnomAD v2: X-153581233-C-T
• gnomAD v4: X-154352865-C-T
• MyVariant Identifiers: chrX:g.153581233C>T (hg19) ; chrX:g.154352865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352865C>T , CM000685.2:g.154352865C>T	GRCh38
NC_000023.10:g.153581233C>T , CM000685.1:g.153581233C>T	GRCh37
NC_000023.9:g.153234427C>T	NCBI36
NG_011506.1:g.26774G>A
NG_011506.2:g.26774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6262G>A	ENSP00000353467.4:p.Asp2088Asn
ENST00000369850.10:c.6286G>A MANE Select	ENSP00000358866.3:p.Asp2096Asn
ENST00000369856.8:c.6205G>A	ENSP00000358872.4:p.Asp2069Asn
ENST00000422373.6:c.3161-190G>A	ENSP00000416926.2:n.3161-190G>A
ENST00000610817.5:c.6343G>A	ENSP00000480593.2:n.6343G>A
ENST00000673639.2:c.280-4175G>A
ENST00000676696.1:c.6565G>A	ENSP00000503392.1:n.6565G>A
ENST00000678304.1:n.1465G>A
ENST00000344736.8:c.6166G>A	ENSP00000358863.3:p.Asp2056Asn
ENST00000360319.8:c.6262G>A	ENSP00000353467.4:p.Asp2088Asn
ENST00000369850.7:c.6286G>A	ENSP00000358866.3:p.Asp2096Asn
ENST00000369856.7:c.6205G>A	ENSP00000358872.4:p.Asp2069Asn
ENST00000415241.1:c.488G>A
ENST00000420627.5:c.6242G>A	ENSP00000408921.1:n.6242G>A
ENST00000422373.5:c.6262G>A	ENSP00000416926.1:p.Asp2088Asn
ENST00000444578.1:c.229G>A	ENSP00000397824.1:p.Asp77Asn
ENST00000466325.1:n.501G>A
ENST00000490936.5:n.2275G>A
ENST00000498411.1:n.19G>A
ENST00000610817.4:c.5844+528G>A	ENSP00000480593.1:n.5844+528G>A
NM_001110556.1:c.6286G>A	NP_001104026.1:p.Asp2096Asn
NM_001456.3:c.6262G>A	NP_001447.2:p.Asp2088Asn
XM_011531127.1:c.6190G>A	XP_011529429.1:p.Asp2064Asn
XM_011531128.1:c.6166G>A	XP_011529430.1:p.Asp2056Asn
XM_011531129.1:c.6112G>A	XP_011529431.1:p.Asp2038Asn
XM_011531130.1:c.6088G>A	XP_011529432.1:p.Asp2030Asn
XM_011531131.1:c.6085G>A	XP_011529433.1:p.Asp2029Asn
NM_001110556.2:c.6286G>A MANE Select	NP_001104026.1:p.Asp2096Asn
NM_001456.4:c.6262G>A	NP_001447.2:p.Asp2088Asn