Canonical Allele Identifier: CA415193117

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1518404
• ClinVar RCV Id: RCV002021721
• dbSNP Id: rs868993210
• gnomAD v4: X-154352789-G-T
• MyVariant Identifiers: chrX:g.153581157G>T (hg19) ; chrX:g.154352789G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352789G>T , CM000685.2:g.154352789G>T	GRCh38
NC_000023.10:g.153581157G>T , CM000685.1:g.153581157G>T	GRCh37
NC_000023.9:g.153234351G>T	NCBI36
NG_011506.1:g.26850C>A
NG_011506.2:g.26850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6338C>A	ENSP00000353467.4:p.Ala2113Asp
ENST00000369850.10:c.6362C>A MANE Select	ENSP00000358866.3:p.Ala2121Asp
ENST00000369856.8:c.6281C>A	ENSP00000358872.4:p.Ala2094Asp
ENST00000422373.6:c.3161-114C>A	ENSP00000416926.2:n.3161-114C>A
ENST00000610817.5:c.6419C>A	ENSP00000480593.2:n.6419C>A
ENST00000673639.2:c.280-4099C>A
ENST00000676696.1:c.6641C>A	ENSP00000503392.1:n.6641C>A
ENST00000678304.1:n.1541C>A
ENST00000344736.8:c.6242C>A	ENSP00000358863.3:p.Ala2081Asp
ENST00000360319.8:c.6338C>A	ENSP00000353467.4:p.Ala2113Asp
ENST00000369850.7:c.6362C>A	ENSP00000358866.3:p.Ala2121Asp
ENST00000369856.7:c.6281C>A	ENSP00000358872.4:p.Ala2094Asp
ENST00000415241.1:c.564C>A
ENST00000420627.5:c.6318C>A	ENSP00000408921.1:n.6318C>A
ENST00000422373.5:c.6338C>A	ENSP00000416926.1:p.Ala2113Asp
ENST00000444578.1:c.305C>A	ENSP00000397824.1:p.Ala102Asp
ENST00000466325.1:n.577C>A
ENST00000490936.5:n.2351C>A
ENST00000498411.1:n.67+28C>A
ENST00000610817.4:c.5844+604C>A	ENSP00000480593.1:n.5844+604C>A
NM_001110556.1:c.6362C>A	NP_001104026.1:p.Ala2121Asp
NM_001456.3:c.6338C>A	NP_001447.2:p.Ala2113Asp
XM_011531127.1:c.6266C>A	XP_011529429.1:p.Ala2089Asp
XM_011531128.1:c.6242C>A	XP_011529430.1:p.Ala2081Asp
XM_011531129.1:c.6188C>A	XP_011529431.1:p.Ala2063Asp
XM_011531130.1:c.6164C>A	XP_011529432.1:p.Ala2055Asp
XM_011531131.1:c.6161C>A	XP_011529433.1:p.Ala2054Asp
NM_001110556.2:c.6362C>A MANE Select	NP_001104026.1:p.Ala2121Asp
NM_001456.4:c.6338C>A	NP_001447.2:p.Ala2113Asp