Canonical Allele Identifier: CA415195766

Gene: FLNA

Linked Data

• ClinVar Variation Id: 492841
• ClinVar RCV Id: RCV000584654 ; RCV001361875 ; RCV003313111
• dbSNP Id: rs1557176118
• gnomAD v4: X-154353081-C-T
• MyVariant Identifiers: chrX:g.153581449C>T (hg19) ; chrX:g.154353081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353081C>T , CM000685.2:g.154353081C>T	GRCh38
NC_000023.10:g.153581449C>T , CM000685.1:g.153581449C>T	GRCh37
NC_000023.9:g.153234643C>T	NCBI36
NG_011506.1:g.26558G>A
NG_011506.2:g.26558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6122G>A	ENSP00000353467.4:p.Arg2041His
ENST00000369850.10:c.6146G>A MANE Select	ENSP00000358866.3:p.Arg2049His
ENST00000369856.8:c.6065G>A	ENSP00000358872.4:p.Arg2022His
ENST00000422373.6:c.3161-406G>A	ENSP00000416926.2:n.3161-406G>A
ENST00000610817.5:c.6203G>A	ENSP00000480593.2:n.6203G>A
ENST00000673639.2:c.280-4391G>A
ENST00000676696.1:c.6425G>A	ENSP00000503392.1:n.6425G>A
ENST00000678304.1:n.1325G>A
ENST00000344736.8:c.6026G>A	ENSP00000358863.3:p.Arg2009His
ENST00000360319.8:c.6122G>A	ENSP00000353467.4:p.Arg2041His
ENST00000369850.7:c.6146G>A	ENSP00000358866.3:p.Arg2049His
ENST00000369856.7:c.6065G>A	ENSP00000358872.4:p.Arg2022His
ENST00000415241.1:c.348G>A
ENST00000420627.5:c.6102G>A	ENSP00000408921.1:n.6102G>A
ENST00000422373.5:c.6122G>A	ENSP00000416926.1:p.Arg2041His
ENST00000444578.1:c.89G>A	ENSP00000397824.1:p.Arg30His
ENST00000466325.1:n.285G>A
ENST00000490936.5:n.2135G>A
ENST00000610817.4:c.5844+312G>A	ENSP00000480593.1:n.5844+312G>A
NM_001110556.1:c.6146G>A	NP_001104026.1:p.Arg2049His
NM_001456.3:c.6122G>A	NP_001447.2:p.Arg2041His
XM_011531127.1:c.6050G>A	XP_011529429.1:p.Arg2017His
XM_011531128.1:c.6026G>A	XP_011529430.1:p.Arg2009His
XM_011531129.1:c.5972G>A	XP_011529431.1:p.Arg1991His
XM_011531130.1:c.5948G>A	XP_011529432.1:p.Arg1983His
XM_011531131.1:c.5945G>A	XP_011529433.1:p.Arg1982His
NM_001110556.2:c.6146G>A MANE Select	NP_001104026.1:p.Arg2049His
NM_001456.4:c.6122G>A	NP_001447.2:p.Arg2041His