Canonical Allele Identifier: CA415216798

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2947964
• ClinVar RCV Id: RCV003806786
• dbSNP Id: rs1557177397
• gnomAD v2: X-153587435-C-T
• gnomAD v3: X-154359067-C-T
• gnomAD v4: X-154359067-C-T
• MyVariant Identifiers: chrX:g.153587435C>T (hg19) ; chrX:g.154359067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154359067C>T , CM000685.2:g.154359067C>T	GRCh38
NC_000023.10:g.153587435C>T , CM000685.1:g.153587435C>T	GRCh37
NC_000023.9:g.153240629C>T	NCBI36
NG_011506.1:g.20572G>A
NG_011506.2:g.20572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4391G>A	ENSP00000353467.4:p.Arg1464His
ENST00000369850.10:c.4391G>A MANE Select	ENSP00000358866.3:p.Arg1464His
ENST00000369856.8:c.4310G>A	ENSP00000358872.4:p.Arg1437His
ENST00000422373.6:c.3160+2288G>A	ENSP00000416926.2:n.3160+2288G>A
ENST00000610817.5:c.4448G>A	ENSP00000480593.2:n.4448G>A
ENST00000673639.2:c.279+6369G>A
ENST00000676696.1:c.4670G>A	ENSP00000503392.1:n.4670G>A
ENST00000678304.1:n.148+22G>A
ENST00000344736.8:c.4391G>A	ENSP00000358863.3:p.Arg1464His
ENST00000360319.8:c.4391G>A	ENSP00000353467.4:p.Arg1464His
ENST00000369850.7:c.4391G>A	ENSP00000358866.3:p.Arg1464His
ENST00000369856.7:c.4310G>A	ENSP00000358872.4:p.Arg1437His
ENST00000420627.5:c.4347G>A	ENSP00000408921.1:n.4347G>A
ENST00000422373.5:c.4391G>A	ENSP00000416926.1:p.Arg1464His
ENST00000490936.5:n.404G>A
ENST00000610817.4:c.4310G>A	ENSP00000480593.1:p.Arg1437His
NM_001110556.1:c.4391G>A	NP_001104026.1:p.Arg1464His
NM_001456.3:c.4391G>A	NP_001447.2:p.Arg1464His
XM_011531127.1:c.4391G>A	XP_011529429.1:p.Arg1464His
XM_011531128.1:c.4391G>A	XP_011529430.1:p.Arg1464His
XM_011531129.1:c.4391G>A	XP_011529431.1:p.Arg1464His
XM_011531130.1:c.4391G>A	XP_011529432.1:p.Arg1464His
XM_011531131.1:c.4190G>A	XP_011529433.1:p.Arg1397His
NM_001110556.2:c.4391G>A MANE Select	NP_001104026.1:p.Arg1464His
NM_001456.4:c.4391G>A	NP_001447.2:p.Arg1464His