Canonical Allele Identifier: CA415197028

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2637317
• ClinVar RCV Id: RCV004536761
• dbSNP Id: rs2067636406
• gnomAD v3: X-154353311-G-A
• gnomAD v4: X-154353311-G-A
• COSMIC: COSM1117919 ; COSM1117920
• MyVariant Identifiers: chrX:g.153581679G>A (hg19) ; chrX:g.154353311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353311G>A , CM000685.2:g.154353311G>A	GRCh38
NC_000023.10:g.153581679G>A , CM000685.1:g.153581679G>A	GRCh37
NC_000023.9:g.153234873G>A	NCBI36
NG_011506.1:g.26328C>T
NG_011506.2:g.26328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5983C>T	ENSP00000353467.4:p.Arg1995Cys
ENST00000369850.10:c.6007C>T MANE Select	ENSP00000358866.3:p.Arg2003Cys
ENST00000369856.8:c.5926C>T	ENSP00000358872.4:p.Arg1976Cys
ENST00000422373.6:c.3161-636C>T	ENSP00000416926.2:n.3161-636C>T
ENST00000610817.5:c.6064C>T	ENSP00000480593.2:n.6064C>T
ENST00000673639.2:c.280-4621C>T
ENST00000676696.1:c.6286C>T	ENSP00000503392.1:n.6286C>T
ENST00000678304.1:n.1186C>T
ENST00000344736.8:c.5887C>T	ENSP00000358863.3:p.Arg1963Cys
ENST00000360319.8:c.5983C>T	ENSP00000353467.4:p.Arg1995Cys
ENST00000369850.7:c.6007C>T	ENSP00000358866.3:p.Arg2003Cys
ENST00000369856.7:c.5926C>T	ENSP00000358872.4:p.Arg1976Cys
ENST00000415241.1:c.192C>T
ENST00000420627.5:c.5963C>T	ENSP00000408921.1:n.5963C>T
ENST00000422373.5:c.5983C>T	ENSP00000416926.1:p.Arg1995Cys
ENST00000438732.2:c.681C>T
ENST00000466325.1:n.146C>T
ENST00000490936.5:n.1996C>T
ENST00000610817.4:c.5844+82C>T	ENSP00000480593.1:n.5844+82C>T
NM_001110556.1:c.6007C>T	NP_001104026.1:p.Arg2003Cys
NM_001456.3:c.5983C>T	NP_001447.2:p.Arg1995Cys
XM_011531127.1:c.5911C>T	XP_011529429.1:p.Arg1971Cys
XM_011531128.1:c.5887C>T	XP_011529430.1:p.Arg1963Cys
XM_011531129.1:c.5833C>T	XP_011529431.1:p.Arg1945Cys
XM_011531130.1:c.5809C>T	XP_011529432.1:p.Arg1937Cys
XM_011531131.1:c.5806C>T	XP_011529433.1:p.Arg1936Cys
NM_001110556.2:c.6007C>T MANE Select	NP_001104026.1:p.Arg2003Cys
NM_001456.4:c.5983C>T	NP_001447.2:p.Arg1995Cys