Canonical Allele Identifier: CA16609149

Gene: FLNA

Linked Data

• ClinVar Variation Id: 379886
• ClinVar RCV Id: RCV000427375 ; RCV001851053
• dbSNP Id: rs1057520770
• gnomAD v3: X-154349481-T-C
• gnomAD v4: X-154349481-T-C
• MyVariant Identifiers: chrX:g.153577849T>C (hg19) ; chrX:g.154349481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349481T>C , CM000685.2:g.154349481T>C	GRCh38
NC_000023.10:g.153577849T>C , CM000685.1:g.153577849T>C	GRCh37
NC_000023.9:g.153231043T>C	NCBI36
NG_011506.1:g.30158A>G
NG_011506.2:g.30158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7613A>G	ENSP00000353467.4:p.Gln2538Arg
ENST00000369850.10:c.7637A>G MANE Select	ENSP00000358866.3:p.Gln2546Arg
ENST00000369856.8:c.7556A>G	ENSP00000358872.4:p.Gln2519Arg
ENST00000422373.6:c.4418A>G	ENSP00000416926.2:p.Gln1473Arg
ENST00000610817.5:c.7694A>G	ENSP00000480593.2:n.7694A>G
ENST00000673639.2:c.280-791A>G
ENST00000676696.1:c.7916A>G	ENSP00000503392.1:n.7916A>G
ENST00000678304.1:n.3355A>G
ENST00000344736.8:c.7517A>G	ENSP00000358863.3:p.Gln2506Arg
ENST00000360319.8:c.7613A>G	ENSP00000353467.4:p.Gln2538Arg
ENST00000369850.7:c.7637A>G	ENSP00000358866.3:p.Gln2546Arg
ENST00000369856.7:c.7556A>G	ENSP00000358872.4:p.Gln2519Arg
ENST00000420627.5:c.7593A>G	ENSP00000408921.1:n.7593A>G
ENST00000422373.5:c.7613A>G	ENSP00000416926.1:p.Gln2538Arg
ENST00000462590.1:n.792A>G
ENST00000490936.5:n.4866A>G
ENST00000498411.1:n.68-651A>G
ENST00000498491.5:n.678A>G
ENST00000610817.4:c.6641A>G	ENSP00000480593.1:p.Gln2214Arg
NM_001110556.1:c.7637A>G	NP_001104026.1:p.Gln2546Arg
NM_001456.3:c.7613A>G	NP_001447.2:p.Gln2538Arg
XM_011531127.1:c.7541A>G	XP_011529429.1:p.Gln2514Arg
XM_011531128.1:c.7517A>G	XP_011529430.1:p.Gln2506Arg
XM_011531129.1:c.7463A>G	XP_011529431.1:p.Gln2488Arg
XM_011531130.1:c.7439A>G	XP_011529432.1:p.Gln2480Arg
XM_011531131.1:c.7436A>G	XP_011529433.1:p.Gln2479Arg
NM_001110556.2:c.7637A>G MANE Select	NP_001104026.1:p.Gln2546Arg
NM_001456.4:c.7613A>G	NP_001447.2:p.Gln2538Arg