Canonical Allele Identifier: CA10560189

Gene: FLNA

Linked Data

• dbSNP Id: rs781915949
• ExAC: X:153581677 A / C
• gnomAD v2: X-153581677-A-C
• MyVariant Identifiers: chrX:g.153581677A>C (hg19) ; chrX:g.154353309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353309A>C , CM000685.2:g.154353309A>C	GRCh38
NC_000023.10:g.153581677A>C , CM000685.1:g.153581677A>C	GRCh37
NC_000023.9:g.153234871A>C	NCBI36
NG_011506.1:g.26330T>G
NG_011506.2:g.26330T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5985T>G	ENSP00000353467.4:p.Arg1995=
ENST00000369850.10:c.6009T>G MANE Select	ENSP00000358866.3:p.Arg2003=
ENST00000369856.8:c.5928T>G	ENSP00000358872.4:p.Arg1976=
ENST00000422373.6:c.3161-634T>G	ENSP00000416926.2:n.3161-634T>G
ENST00000610817.5:c.6066T>G	ENSP00000480593.2:n.6066T>G
ENST00000673639.2:c.280-4619T>G
ENST00000676696.1:c.6288T>G	ENSP00000503392.1:n.6288T>G
ENST00000678304.1:n.1188T>G
ENST00000344736.8:c.5889T>G	ENSP00000358863.3:p.Arg1963=
ENST00000360319.8:c.5985T>G	ENSP00000353467.4:p.Arg1995=
ENST00000369850.7:c.6009T>G	ENSP00000358866.3:p.Arg2003=
ENST00000369856.7:c.5928T>G	ENSP00000358872.4:p.Arg1976=
ENST00000415241.1:c.194T>G
ENST00000420627.5:c.5965T>G	ENSP00000408921.1:n.5965T>G
ENST00000422373.5:c.5985T>G	ENSP00000416926.1:p.Arg1995=
ENST00000438732.2:c.683T>G
ENST00000466325.1:n.148T>G
ENST00000490936.5:n.1998T>G
ENST00000610817.4:c.5844+84T>G	ENSP00000480593.1:n.5844+84T>G
NM_001110556.1:c.6009T>G	NP_001104026.1:p.Arg2003=
NM_001456.3:c.5985T>G	NP_001447.2:p.Arg1995=
XM_011531127.1:c.5913T>G	XP_011529429.1:p.Arg1971=
XM_011531128.1:c.5889T>G	XP_011529430.1:p.Arg1963=
XM_011531129.1:c.5835T>G	XP_011529431.1:p.Arg1945=
XM_011531130.1:c.5811T>G	XP_011529432.1:p.Arg1937=
XM_011531131.1:c.5808T>G	XP_011529433.1:p.Arg1936=
NM_001110556.2:c.6009T>G MANE Select	NP_001104026.1:p.Arg2003=
NM_001456.4:c.5985T>G	NP_001447.2:p.Arg1995=