Canonical Allele Identifier: CA10560128

Gene: FLNA

Linked Data

• ClinVar Variation Id: 704290
• ClinVar RCV Id: RCV000874278 ; RCV001558555 ; RCV002363291
• dbSNP Id: rs781913265
• ExAC: X:153581246 G / A
• gnomAD v2: X-153581246-G-A
• gnomAD v3: X-154352878-G-A
• gnomAD v4: X-154352878-G-A
• MyVariant Identifiers: chrX:g.153581246G>A (hg19) ; chrX:g.154352878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352878G>A , CM000685.2:g.154352878G>A	GRCh38
NC_000023.10:g.153581246G>A , CM000685.1:g.153581246G>A	GRCh37
NC_000023.9:g.153234440G>A	NCBI36
NG_011506.1:g.26761C>T
NG_011506.2:g.26761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6249C>T	ENSP00000353467.4:p.Asp2083=
ENST00000369850.10:c.6273C>T MANE Select	ENSP00000358866.3:p.Asp2091=
ENST00000369856.8:c.6192C>T	ENSP00000358872.4:p.Asp2064=
ENST00000422373.6:c.3161-203C>T	ENSP00000416926.2:n.3161-203C>T
ENST00000610817.5:c.6330C>T	ENSP00000480593.2:n.6330C>T
ENST00000673639.2:c.280-4188C>T
ENST00000676696.1:c.6552C>T	ENSP00000503392.1:n.6552C>T
ENST00000678304.1:n.1452C>T
ENST00000344736.8:c.6153C>T	ENSP00000358863.3:p.Asp2051=
ENST00000360319.8:c.6249C>T	ENSP00000353467.4:p.Asp2083=
ENST00000369850.7:c.6273C>T	ENSP00000358866.3:p.Asp2091=
ENST00000369856.7:c.6192C>T	ENSP00000358872.4:p.Asp2064=
ENST00000415241.1:c.475C>T
ENST00000420627.5:c.6229C>T	ENSP00000408921.1:n.6229C>T
ENST00000422373.5:c.6249C>T	ENSP00000416926.1:p.Asp2083=
ENST00000444578.1:c.216C>T	ENSP00000397824.1:p.Asp72=
ENST00000466325.1:n.488C>T
ENST00000490936.5:n.2262C>T
ENST00000498411.1:n.6C>T
ENST00000610817.4:c.5844+515C>T	ENSP00000480593.1:n.5844+515C>T
NM_001110556.1:c.6273C>T	NP_001104026.1:p.Asp2091=
NM_001456.3:c.6249C>T	NP_001447.2:p.Asp2083=
XM_011531127.1:c.6177C>T	XP_011529429.1:p.Asp2059=
XM_011531128.1:c.6153C>T	XP_011529430.1:p.Asp2051=
XM_011531129.1:c.6099C>T	XP_011529431.1:p.Asp2033=
XM_011531130.1:c.6075C>T	XP_011529432.1:p.Asp2025=
XM_011531131.1:c.6072C>T	XP_011529433.1:p.Asp2024=
NM_001110556.2:c.6273C>T MANE Select	NP_001104026.1:p.Asp2091=
NM_001456.4:c.6249C>T	NP_001447.2:p.Asp2083=