Canonical Allele Identifier: CA415184765

Gene: FLNA

Linked Data

• gnomAD v4: X-154350927-C-T
• MyVariant Identifiers: chrX:g.153579295C>T (hg19) ; chrX:g.154350927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350927C>T , CM000685.2:g.154350927C>T	GRCh38
NC_000023.10:g.153579295C>T , CM000685.1:g.153579295C>T	GRCh37
NC_000023.9:g.153232489C>T	NCBI36
NG_011506.1:g.28712G>A
NG_011506.2:g.28712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7114G>A	ENSP00000353467.4:p.Val2372Ile
ENST00000369850.10:c.7138G>A MANE Select	ENSP00000358866.3:p.Val2380Ile
ENST00000369856.8:c.7057G>A	ENSP00000358872.4:p.Val2353Ile
ENST00000422373.6:c.3919G>A	ENSP00000416926.2:p.Val1307Ile
ENST00000610817.5:c.7195G>A	ENSP00000480593.2:n.7195G>A
ENST00000673639.2:c.280-2237G>A
ENST00000676696.1:c.7417G>A	ENSP00000503392.1:n.7417G>A
ENST00000678304.1:n.2856G>A
ENST00000344736.8:c.7018G>A	ENSP00000358863.3:p.Val2340Ile
ENST00000360319.8:c.7114G>A	ENSP00000353467.4:p.Val2372Ile
ENST00000369850.7:c.7138G>A	ENSP00000358866.3:p.Val2380Ile
ENST00000369856.7:c.7057G>A	ENSP00000358872.4:p.Val2353Ile
ENST00000420627.5:c.7094G>A	ENSP00000408921.1:n.7094G>A
ENST00000422373.5:c.7114G>A	ENSP00000416926.1:p.Val2372Ile
ENST00000490936.5:n.3666G>A
ENST00000498411.1:n.67+1890G>A
ENST00000498491.5:n.179G>A
ENST00000610817.4:c.6142G>A	ENSP00000480593.1:p.Val2048Ile
NM_001110556.1:c.7138G>A	NP_001104026.1:p.Val2380Ile
NM_001456.3:c.7114G>A	NP_001447.2:p.Val2372Ile
XM_011531127.1:c.7042G>A	XP_011529429.1:p.Val2348Ile
XM_011531128.1:c.7018G>A	XP_011529430.1:p.Val2340Ile
XM_011531129.1:c.6964G>A	XP_011529431.1:p.Val2322Ile
XM_011531130.1:c.6940G>A	XP_011529432.1:p.Val2314Ile
XM_011531131.1:c.6937G>A	XP_011529433.1:p.Val2313Ile
NM_001110556.2:c.7138G>A MANE Select	NP_001104026.1:p.Val2380Ile
NM_001456.4:c.7114G>A	NP_001447.2:p.Val2372Ile