Canonical Allele Identifier: CA10559962

Gene: FLNA

Linked Data

• ClinVar Variation Id: 502625
• ClinVar RCV Id: RCV000593962 ; RCV002062106
• dbSNP Id: rs782583650
• ExAC: X:153579381 G / C
• gnomAD v2: X-153579381-G-C
• gnomAD v4: X-154351013-G-C
• MyVariant Identifiers: chrX:g.153579381G>C (hg19) ; chrX:g.154351013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154351013G>C , CM000685.2:g.154351013G>C	GRCh38
NC_000023.10:g.153579381G>C , CM000685.1:g.153579381G>C	GRCh37
NC_000023.9:g.153232575G>C	NCBI36
NG_011506.1:g.28626C>G
NG_011506.2:g.28626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7028C>G	ENSP00000353467.4:p.Ala2343Gly
ENST00000369850.10:c.7052C>G MANE Select	ENSP00000358866.3:p.Ala2351Gly
ENST00000369856.8:c.6971C>G	ENSP00000358872.4:p.Ala2324Gly
ENST00000422373.6:c.3833C>G	ENSP00000416926.2:p.Ala1278Gly
ENST00000610817.5:c.7109C>G	ENSP00000480593.2:n.7109C>G
ENST00000673639.2:c.280-2323C>G
ENST00000676696.1:c.7331C>G	ENSP00000503392.1:n.7331C>G
ENST00000678304.1:n.2770C>G
ENST00000344736.8:c.6932C>G	ENSP00000358863.3:p.Ala2311Gly
ENST00000360319.8:c.7028C>G	ENSP00000353467.4:p.Ala2343Gly
ENST00000369850.7:c.7052C>G	ENSP00000358866.3:p.Ala2351Gly
ENST00000369856.7:c.6971C>G	ENSP00000358872.4:p.Ala2324Gly
ENST00000420627.5:c.7008C>G	ENSP00000408921.1:n.7008C>G
ENST00000422373.5:c.7028C>G	ENSP00000416926.1:p.Ala2343Gly
ENST00000490936.5:n.3580C>G
ENST00000498411.1:n.67+1804C>G
ENST00000498491.5:n.93C>G
ENST00000610817.4:c.6056C>G	ENSP00000480593.1:p.Ala2019Gly
NM_001110556.1:c.7052C>G	NP_001104026.1:p.Ala2351Gly
NM_001456.3:c.7028C>G	NP_001447.2:p.Ala2343Gly
XM_011531127.1:c.6956C>G	XP_011529429.1:p.Ala2319Gly
XM_011531128.1:c.6932C>G	XP_011529430.1:p.Ala2311Gly
XM_011531129.1:c.6878C>G	XP_011529431.1:p.Ala2293Gly
XM_011531130.1:c.6854C>G	XP_011529432.1:p.Ala2285Gly
XM_011531131.1:c.6851C>G	XP_011529433.1:p.Ala2284Gly
NM_001110556.2:c.7052C>G MANE Select	NP_001104026.1:p.Ala2351Gly
NM_001456.4:c.7028C>G	NP_001447.2:p.Ala2343Gly