Canonical Allele Identifier: CA337272875

Gene: FLNA

Linked Data

• ClinVar Variation Id: 521869
• ClinVar RCV Id: RCV000624170 ; RCV001215878 ; RCV001562219
• dbSNP Id: rs782190081
• gnomAD v2: X-153578116-C-T
• gnomAD v4: X-154349748-C-T
• MyVariant Identifiers: chrX:g.153578116C>T (hg19) ; chrX:g.154349748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349748C>T , CM000685.2:g.154349748C>T	GRCh38
NC_000023.10:g.153578116C>T , CM000685.1:g.153578116C>T	GRCh37
NC_000023.9:g.153231310C>T	NCBI36
NG_011506.1:g.29891G>A
NG_011506.2:g.29891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7429G>A	ENSP00000353467.4:p.Val2477Ile
ENST00000369850.10:c.7453G>A MANE Select	ENSP00000358866.3:p.Val2485Ile
ENST00000369856.8:c.7372G>A	ENSP00000358872.4:p.Val2458Ile
ENST00000422373.6:c.4234G>A	ENSP00000416926.2:p.Val1412Ile
ENST00000610817.5:c.7510G>A	ENSP00000480593.2:n.7510G>A
ENST00000673639.2:c.280-1058G>A
ENST00000676696.1:c.7732G>A	ENSP00000503392.1:n.7732G>A
ENST00000678304.1:n.3171G>A
ENST00000344736.8:c.7333G>A	ENSP00000358863.3:p.Val2445Ile
ENST00000360319.8:c.7429G>A	ENSP00000353467.4:p.Val2477Ile
ENST00000369850.7:c.7453G>A	ENSP00000358866.3:p.Val2485Ile
ENST00000369856.7:c.7372G>A	ENSP00000358872.4:p.Val2458Ile
ENST00000420627.5:c.7409G>A	ENSP00000408921.1:n.7409G>A
ENST00000422373.5:c.7429G>A	ENSP00000416926.1:p.Val2477Ile
ENST00000462590.1:n.608G>A
ENST00000490936.5:n.4682G>A
ENST00000498411.1:n.68-918G>A
ENST00000498491.5:n.494G>A
ENST00000610817.4:c.6457G>A	ENSP00000480593.1:p.Val2153Ile
NM_001110556.1:c.7453G>A	NP_001104026.1:p.Val2485Ile
NM_001456.3:c.7429G>A	NP_001447.2:p.Val2477Ile
XM_011531127.1:c.7357G>A	XP_011529429.1:p.Val2453Ile
XM_011531128.1:c.7333G>A	XP_011529430.1:p.Val2445Ile
XM_011531129.1:c.7279G>A	XP_011529431.1:p.Val2427Ile
XM_011531130.1:c.7255G>A	XP_011529432.1:p.Val2419Ile
XM_011531131.1:c.7252G>A	XP_011529433.1:p.Val2418Ile
NM_001110556.2:c.7453G>A MANE Select	NP_001104026.1:p.Val2485Ile
NM_001456.4:c.7429G>A	NP_001447.2:p.Val2477Ile