Canonical Allele Identifier: CA415193618

Gene: FLNA

Linked Data

• dbSNP Id: rs1557176055
• gnomAD v2: X-153581200-A-T
• gnomAD v3: X-154352832-A-T
• gnomAD v4: X-154352832-A-T
• MyVariant Identifiers: chrX:g.153581200A>T (hg19) ; chrX:g.154352832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352832A>T , CM000685.2:g.154352832A>T	GRCh38
NC_000023.10:g.153581200A>T , CM000685.1:g.153581200A>T	GRCh37
NC_000023.9:g.153234394A>T	NCBI36
NG_011506.1:g.26807T>A
NG_011506.2:g.26807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6295T>A	ENSP00000353467.4:p.Cys2099Ser
ENST00000369850.10:c.6319T>A MANE Select	ENSP00000358866.3:p.Cys2107Ser
ENST00000369856.8:c.6238T>A	ENSP00000358872.4:p.Cys2080Ser
ENST00000422373.6:c.3161-157T>A	ENSP00000416926.2:n.3161-157T>A
ENST00000610817.5:c.6376T>A	ENSP00000480593.2:n.6376T>A
ENST00000673639.2:c.280-4142T>A
ENST00000676696.1:c.6598T>A	ENSP00000503392.1:n.6598T>A
ENST00000678304.1:n.1498T>A
ENST00000344736.8:c.6199T>A	ENSP00000358863.3:p.Cys2067Ser
ENST00000360319.8:c.6295T>A	ENSP00000353467.4:p.Cys2099Ser
ENST00000369850.7:c.6319T>A	ENSP00000358866.3:p.Cys2107Ser
ENST00000369856.7:c.6238T>A	ENSP00000358872.4:p.Cys2080Ser
ENST00000415241.1:c.521T>A
ENST00000420627.5:c.6275T>A	ENSP00000408921.1:n.6275T>A
ENST00000422373.5:c.6295T>A	ENSP00000416926.1:p.Cys2099Ser
ENST00000444578.1:c.262T>A	ENSP00000397824.1:p.Cys88Ser
ENST00000466325.1:n.534T>A
ENST00000490936.5:n.2308T>A
ENST00000498411.1:n.52T>A
ENST00000610817.4:c.5844+561T>A	ENSP00000480593.1:n.5844+561T>A
NM_001110556.1:c.6319T>A	NP_001104026.1:p.Cys2107Ser
NM_001456.3:c.6295T>A	NP_001447.2:p.Cys2099Ser
XM_011531127.1:c.6223T>A	XP_011529429.1:p.Cys2075Ser
XM_011531128.1:c.6199T>A	XP_011529430.1:p.Cys2067Ser
XM_011531129.1:c.6145T>A	XP_011529431.1:p.Cys2049Ser
XM_011531130.1:c.6121T>A	XP_011529432.1:p.Cys2041Ser
XM_011531131.1:c.6118T>A	XP_011529433.1:p.Cys2040Ser
NM_001110556.2:c.6319T>A MANE Select	NP_001104026.1:p.Cys2107Ser
NM_001456.4:c.6295T>A	NP_001447.2:p.Cys2099Ser