Canonical Allele Identifier: CA415195264

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1450916
• ClinVar RCV Id: RCV001992999
• dbSNP Id: rs2067633311
• gnomAD v4: X-154353031-C-T
• MyVariant Identifiers: chrX:g.153581399C>T (hg19) ; chrX:g.154353031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353031C>T , CM000685.2:g.154353031C>T	GRCh38
NC_000023.10:g.153581399C>T , CM000685.1:g.153581399C>T	GRCh37
NC_000023.9:g.153234593C>T	NCBI36
NG_011506.1:g.26608G>A
NG_011506.2:g.26608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6172G>A	ENSP00000353467.4:p.Ala2058Thr
ENST00000369850.10:c.6196G>A MANE Select	ENSP00000358866.3:p.Ala2066Thr
ENST00000369856.8:c.6115G>A	ENSP00000358872.4:p.Ala2039Thr
ENST00000422373.6:c.3161-356G>A	ENSP00000416926.2:n.3161-356G>A
ENST00000610817.5:c.6253G>A	ENSP00000480593.2:n.6253G>A
ENST00000673639.2:c.280-4341G>A
ENST00000676696.1:c.6475G>A	ENSP00000503392.1:n.6475G>A
ENST00000678304.1:n.1375G>A
ENST00000344736.8:c.6076G>A	ENSP00000358863.3:p.Ala2026Thr
ENST00000360319.8:c.6172G>A	ENSP00000353467.4:p.Ala2058Thr
ENST00000369850.7:c.6196G>A	ENSP00000358866.3:p.Ala2066Thr
ENST00000369856.7:c.6115G>A	ENSP00000358872.4:p.Ala2039Thr
ENST00000415241.1:c.398G>A
ENST00000420627.5:c.6152G>A	ENSP00000408921.1:n.6152G>A
ENST00000422373.5:c.6172G>A	ENSP00000416926.1:p.Ala2058Thr
ENST00000444578.1:c.139G>A	ENSP00000397824.1:p.Ala47Thr
ENST00000466325.1:n.335G>A
ENST00000490936.5:n.2185G>A
ENST00000610817.4:c.5844+362G>A	ENSP00000480593.1:n.5844+362G>A
NM_001110556.1:c.6196G>A	NP_001104026.1:p.Ala2066Thr
NM_001456.3:c.6172G>A	NP_001447.2:p.Ala2058Thr
XM_011531127.1:c.6100G>A	XP_011529429.1:p.Ala2034Thr
XM_011531128.1:c.6076G>A	XP_011529430.1:p.Ala2026Thr
XM_011531129.1:c.6022G>A	XP_011529431.1:p.Ala2008Thr
XM_011531130.1:c.5998G>A	XP_011529432.1:p.Ala2000Thr
XM_011531131.1:c.5995G>A	XP_011529433.1:p.Ala1999Thr
NM_001110556.2:c.6196G>A MANE Select	NP_001104026.1:p.Ala2066Thr
NM_001456.4:c.6172G>A	NP_001447.2:p.Ala2058Thr