Canonical Allele Identifier: CA10604723

Gene: FLNA

Linked Data

• ClinVar Variation Id: 284205
• ClinVar RCV Id: RCV000306739 ; RCV001434949
• dbSNP Id: rs886044822
• gnomAD v2: X-153578487-G-A
• gnomAD v4: X-154350119-G-A
• MyVariant Identifiers: chrX:g.153578487G>A (hg19) ; chrX:g.154350119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350119G>A , CM000685.2:g.154350119G>A	GRCh38
NC_000023.10:g.153578487G>A , CM000685.1:g.153578487G>A	GRCh37
NC_000023.9:g.153231681G>A	NCBI36
NG_011506.1:g.29520C>T
NG_011506.2:g.29520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7221C>T	ENSP00000353467.4:p.Pro2407=
ENST00000369850.10:c.7245C>T MANE Select	ENSP00000358866.3:p.Pro2415=
ENST00000369856.8:c.7164C>T	ENSP00000358872.4:p.Pro2388=
ENST00000422373.6:c.4026C>T	ENSP00000416926.2:p.Pro1342=
ENST00000610817.5:c.7302C>T	ENSP00000480593.2:n.7302C>T
ENST00000673639.2:c.280-1429C>T
ENST00000676696.1:c.7524C>T	ENSP00000503392.1:n.7524C>T
ENST00000678304.1:n.2963C>T
ENST00000344736.8:c.7125C>T	ENSP00000358863.3:p.Pro2375=
ENST00000360319.8:c.7221C>T	ENSP00000353467.4:p.Pro2407=
ENST00000369850.7:c.7245C>T	ENSP00000358866.3:p.Pro2415=
ENST00000369856.7:c.7164C>T	ENSP00000358872.4:p.Pro2388=
ENST00000420627.5:c.7201C>T	ENSP00000408921.1:n.7201C>T
ENST00000422373.5:c.7221C>T	ENSP00000416926.1:p.Pro2407=
ENST00000462590.1:n.237C>T
ENST00000490936.5:n.4474C>T
ENST00000498411.1:n.68-1289C>T
ENST00000498491.5:n.286C>T
ENST00000610817.4:c.6249C>T	ENSP00000480593.1:p.Pro2083=
NM_001110556.1:c.7245C>T	NP_001104026.1:p.Pro2415=
NM_001456.3:c.7221C>T	NP_001447.2:p.Pro2407=
XM_011531127.1:c.7149C>T	XP_011529429.1:p.Pro2383=
XM_011531128.1:c.7125C>T	XP_011529430.1:p.Pro2375=
XM_011531129.1:c.7071C>T	XP_011529431.1:p.Pro2357=
XM_011531130.1:c.7047C>T	XP_011529432.1:p.Pro2349=
XM_011531131.1:c.7044C>T	XP_011529433.1:p.Pro2348=
NM_001110556.2:c.7245C>T MANE Select	NP_001104026.1:p.Pro2415=
NM_001456.4:c.7221C>T	NP_001447.2:p.Pro2407=