Canonical Allele Identifier: CA519706681

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1752969
• ClinVar RCV Id: RCV002368943
• dbSNP Id: rs1190800063
• gnomAD v2: X-153581150-C-T
• gnomAD v3: X-154352782-C-T
• gnomAD v4: X-154352782-C-T
• MyVariant Identifiers: chrX:g.153581150C>T (hg19) ; chrX:g.154352782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352782C>T , CM000685.2:g.154352782C>T	GRCh38
NC_000023.10:g.153581150C>T , CM000685.1:g.153581150C>T	GRCh37
NC_000023.9:g.153234344C>T	NCBI36
NG_011506.1:g.26857G>A
NG_011506.2:g.26857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6345G>A	ENSP00000353467.4:p.Gln2115=
ENST00000369850.10:c.6369G>A MANE Select	ENSP00000358866.3:p.Gln2123=
ENST00000369856.8:c.6288G>A	ENSP00000358872.4:p.Gln2096=
ENST00000422373.6:c.3161-107G>A	ENSP00000416926.2:n.3161-107G>A
ENST00000610817.5:c.6426G>A	ENSP00000480593.2:n.6426G>A
ENST00000673639.2:c.280-4092G>A
ENST00000676696.1:c.6648G>A	ENSP00000503392.1:n.6648G>A
ENST00000678304.1:n.1548G>A
ENST00000344736.8:c.6249G>A	ENSP00000358863.3:p.Gln2083=
ENST00000360319.8:c.6345G>A	ENSP00000353467.4:p.Gln2115=
ENST00000369850.7:c.6369G>A	ENSP00000358866.3:p.Gln2123=
ENST00000369856.7:c.6288G>A	ENSP00000358872.4:p.Gln2096=
ENST00000415241.1:c.571G>A
ENST00000420627.5:c.6325G>A	ENSP00000408921.1:n.6325G>A
ENST00000422373.5:c.6345G>A	ENSP00000416926.1:p.Gln2115=
ENST00000444578.1:c.312G>A	ENSP00000397824.1:p.Gln104=
ENST00000466325.1:n.584G>A
ENST00000474358.5:n.2G>A
ENST00000490936.5:n.2358G>A
ENST00000498411.1:n.67+35G>A
ENST00000610817.4:c.5844+611G>A	ENSP00000480593.1:n.5844+611G>A
NM_001110556.1:c.6369G>A	NP_001104026.1:p.Gln2123=
NM_001456.3:c.6345G>A	NP_001447.2:p.Gln2115=
XM_011531127.1:c.6273G>A	XP_011529429.1:p.Gln2091=
XM_011531128.1:c.6249G>A	XP_011529430.1:p.Gln2083=
XM_011531129.1:c.6195G>A	XP_011529431.1:p.Gln2065=
XM_011531130.1:c.6171G>A	XP_011529432.1:p.Gln2057=
XM_011531131.1:c.6168G>A	XP_011529433.1:p.Gln2056=
NM_001110556.2:c.6369G>A MANE Select	NP_001104026.1:p.Gln2123=
NM_001456.4:c.6345G>A	NP_001447.2:p.Gln2115=