Canonical Allele Identifier: CA415216244

Gene: FLNA

Linked Data

• ClinVar Variation Id: 582608
• ClinVar RCV Id: RCV002233697
• dbSNP Id: rs1569551606
• gnomAD v4: X-154359006-C-G
• MyVariant Identifiers: chrX:g.153587374C>G (hg19) ; chrX:g.154359006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154359006C>G , CM000685.2:g.154359006C>G	GRCh38
NC_000023.10:g.153587374C>G , CM000685.1:g.153587374C>G	GRCh37
NC_000023.9:g.153240568C>G	NCBI36
NG_011506.1:g.20633G>C
NG_011506.2:g.20633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4452G>C	ENSP00000353467.4:p.Gln1484His
ENST00000369850.10:c.4452G>C MANE Select	ENSP00000358866.3:p.Gln1484His
ENST00000369856.8:c.4371G>C	ENSP00000358872.4:p.Gln1457His
ENST00000422373.6:c.3160+2349G>C	ENSP00000416926.2:n.3160+2349G>C
ENST00000610817.5:c.4509G>C	ENSP00000480593.2:n.4509G>C
ENST00000673639.2:c.279+6430G>C
ENST00000676696.1:c.4731G>C	ENSP00000503392.1:n.4731G>C
ENST00000678304.1:n.148+83G>C
ENST00000344736.8:c.4452G>C	ENSP00000358863.3:p.Gln1484His
ENST00000360319.8:c.4452G>C	ENSP00000353467.4:p.Gln1484His
ENST00000369850.7:c.4452G>C	ENSP00000358866.3:p.Gln1484His
ENST00000369856.7:c.4371G>C	ENSP00000358872.4:p.Gln1457His
ENST00000420627.5:c.4408G>C	ENSP00000408921.1:n.4408G>C
ENST00000422373.5:c.4452G>C	ENSP00000416926.1:p.Gln1484His
ENST00000490936.5:n.465G>C
ENST00000610817.4:c.4371G>C	ENSP00000480593.1:p.Gln1457His
NM_001110556.1:c.4452G>C	NP_001104026.1:p.Gln1484His
NM_001456.3:c.4452G>C	NP_001447.2:p.Gln1484His
XM_011531127.1:c.4452G>C	XP_011529429.1:p.Gln1484His
XM_011531128.1:c.4452G>C	XP_011529430.1:p.Gln1484His
XM_011531129.1:c.4452G>C	XP_011529431.1:p.Gln1484His
XM_011531130.1:c.4452G>C	XP_011529432.1:p.Gln1484His
XM_011531131.1:c.4251G>C	XP_011529433.1:p.Gln1417His
NM_001110556.2:c.4452G>C MANE Select	NP_001104026.1:p.Gln1484His
NM_001456.4:c.4452G>C	NP_001447.2:p.Gln1484His