Canonical Allele Identifier: CA10560156

Gene: FLNA

Linked Data

• ClinVar Variation Id: 636591
• ClinVar RCV Id: RCV000788463 ; RCV001869207
• dbSNP Id: rs782740450
• ExAC: X:153581450 G / A
• gnomAD v2: X-153581450-G-A
• gnomAD v4: X-154353082-G-A
• MyVariant Identifiers: chrX:g.153581450G>A (hg19) ; chrX:g.154353082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353082G>A , CM000685.2:g.154353082G>A	GRCh38
NC_000023.10:g.153581450G>A , CM000685.1:g.153581450G>A	GRCh37
NC_000023.9:g.153234644G>A	NCBI36
NG_011506.1:g.26557C>T
NG_011506.2:g.26557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6121C>T	ENSP00000353467.4:p.Arg2041Cys
ENST00000369850.10:c.6145C>T MANE Select	ENSP00000358866.3:p.Arg2049Cys
ENST00000369856.8:c.6064C>T	ENSP00000358872.4:p.Arg2022Cys
ENST00000422373.6:c.3161-407C>T	ENSP00000416926.2:n.3161-407C>T
ENST00000610817.5:c.6202C>T	ENSP00000480593.2:n.6202C>T
ENST00000673639.2:c.280-4392C>T
ENST00000676696.1:c.6424C>T	ENSP00000503392.1:n.6424C>T
ENST00000678304.1:n.1324C>T
ENST00000344736.8:c.6025C>T	ENSP00000358863.3:p.Arg2009Cys
ENST00000360319.8:c.6121C>T	ENSP00000353467.4:p.Arg2041Cys
ENST00000369850.7:c.6145C>T	ENSP00000358866.3:p.Arg2049Cys
ENST00000369856.7:c.6064C>T	ENSP00000358872.4:p.Arg2022Cys
ENST00000415241.1:c.347C>T
ENST00000420627.5:c.6101C>T	ENSP00000408921.1:n.6101C>T
ENST00000422373.5:c.6121C>T	ENSP00000416926.1:p.Arg2041Cys
ENST00000444578.1:c.88C>T	ENSP00000397824.1:p.Arg30Cys
ENST00000466325.1:n.284C>T
ENST00000490936.5:n.2134C>T
ENST00000610817.4:c.5844+311C>T	ENSP00000480593.1:n.5844+311C>T
NM_001110556.1:c.6145C>T	NP_001104026.1:p.Arg2049Cys
NM_001456.3:c.6121C>T	NP_001447.2:p.Arg2041Cys
XM_011531127.1:c.6049C>T	XP_011529429.1:p.Arg2017Cys
XM_011531128.1:c.6025C>T	XP_011529430.1:p.Arg2009Cys
XM_011531129.1:c.5971C>T	XP_011529431.1:p.Arg1991Cys
XM_011531130.1:c.5947C>T	XP_011529432.1:p.Arg1983Cys
XM_011531131.1:c.5944C>T	XP_011529433.1:p.Arg1982Cys
NM_001110556.2:c.6145C>T MANE Select	NP_001104026.1:p.Arg2049Cys
NM_001456.4:c.6121C>T	NP_001447.2:p.Arg2041Cys