Canonical Allele Identifier: CA10559825

Gene: FLNA

Linked Data

• ClinVar Variation Id: 264331
• ClinVar RCV Id: RCV001296877 ; RCV002311136
• dbSNP Id: rs782593788
• ExAC: X:153577365 G / T
• gnomAD v2: X-153577365-G-T
• gnomAD v4: X-154348997-G-T
• MyVariant Identifiers: chrX:g.153577365G>T (hg19) ; chrX:g.154348997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154348997G>T , CM000685.2:g.154348997G>T	GRCh38
NC_000023.10:g.153577365G>T , CM000685.1:g.153577365G>T	GRCh37
NC_000023.9:g.153230559G>T	NCBI36
NG_011506.1:g.30642C>A
NG_011506.2:g.30642C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7772C>A	ENSP00000353467.4:p.Thr2591Asn
ENST00000369850.10:c.7796C>A MANE Select	ENSP00000358866.3:p.Thr2599Asn
ENST00000369856.8:c.7715C>A	ENSP00000358872.4:p.Thr2572Asn
ENST00000422373.6:c.4577C>A	ENSP00000416926.2:p.Thr1526Asn
ENST00000610817.5:c.7853C>A	ENSP00000480593.2:n.7853C>A
ENST00000673639.2:c.280-307C>A
ENST00000676696.1:c.8075C>A	ENSP00000503392.1:n.8075C>A
ENST00000678304.1:n.3514C>A
ENST00000344736.8:c.7676C>A	ENSP00000358863.3:p.Thr2559Asn
ENST00000360319.8:c.7772C>A	ENSP00000353467.4:p.Thr2591Asn
ENST00000369850.7:c.7796C>A	ENSP00000358866.3:p.Thr2599Asn
ENST00000369856.7:c.7715C>A	ENSP00000358872.4:p.Thr2572Asn
ENST00000420627.5:c.7752C>A	ENSP00000408921.1:n.7752C>A
ENST00000422373.5:c.7772C>A	ENSP00000416926.1:p.Thr2591Asn
ENST00000462590.1:n.951C>A
ENST00000490936.5:n.5025C>A
ENST00000498411.1:n.68-167C>A
ENST00000498491.5:n.837C>A
ENST00000610817.4:c.6800C>A	ENSP00000480593.1:p.Thr2267Asn
NM_001110556.1:c.7796C>A	NP_001104026.1:p.Thr2599Asn
NM_001456.3:c.7772C>A	NP_001447.2:p.Thr2591Asn
XM_011531127.1:c.7700C>A	XP_011529429.1:p.Thr2567Asn
XM_011531128.1:c.7676C>A	XP_011529430.1:p.Thr2559Asn
XM_011531129.1:c.7622C>A	XP_011529431.1:p.Thr2541Asn
XM_011531130.1:c.7598C>A	XP_011529432.1:p.Thr2533Asn
XM_011531131.1:c.7595C>A	XP_011529433.1:p.Thr2532Asn
NM_001110556.2:c.7796C>A MANE Select	NP_001104026.1:p.Thr2599Asn
NM_001456.4:c.7772C>A	NP_001447.2:p.Thr2591Asn