Canonical Allele Identifier: CA415195462

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1326573
• ClinVar RCV Id: RCV001786753
• dbSNP Id: rs2148104947
• MyVariant Identifiers: chrX:g.153581416C>G (hg19) ; chrX:g.154353048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353048C>G , CM000685.2:g.154353048C>G	GRCh38
NC_000023.10:g.153581416C>G , CM000685.1:g.153581416C>G	GRCh37
NC_000023.9:g.153234610C>G	NCBI36
NG_011506.1:g.26591G>C
NG_011506.2:g.26591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6155G>C	ENSP00000353467.4:p.Gly2052Ala
ENST00000369850.10:c.6179G>C MANE Select	ENSP00000358866.3:p.Gly2060Ala
ENST00000369856.8:c.6098G>C	ENSP00000358872.4:p.Gly2033Ala
ENST00000422373.6:c.3161-373G>C	ENSP00000416926.2:n.3161-373G>C
ENST00000610817.5:c.6236G>C	ENSP00000480593.2:n.6236G>C
ENST00000673639.2:c.280-4358G>C
ENST00000676696.1:c.6458G>C	ENSP00000503392.1:n.6458G>C
ENST00000678304.1:n.1358G>C
ENST00000344736.8:c.6059G>C	ENSP00000358863.3:p.Gly2020Ala
ENST00000360319.8:c.6155G>C	ENSP00000353467.4:p.Gly2052Ala
ENST00000369850.7:c.6179G>C	ENSP00000358866.3:p.Gly2060Ala
ENST00000369856.7:c.6098G>C	ENSP00000358872.4:p.Gly2033Ala
ENST00000415241.1:c.381G>C
ENST00000420627.5:c.6135G>C	ENSP00000408921.1:n.6135G>C
ENST00000422373.5:c.6155G>C	ENSP00000416926.1:p.Gly2052Ala
ENST00000444578.1:c.122G>C	ENSP00000397824.1:p.Gly41Ala
ENST00000466325.1:n.318G>C
ENST00000490936.5:n.2168G>C
ENST00000610817.4:c.5844+345G>C	ENSP00000480593.1:n.5844+345G>C
NM_001110556.1:c.6179G>C	NP_001104026.1:p.Gly2060Ala
NM_001456.3:c.6155G>C	NP_001447.2:p.Gly2052Ala
XM_011531127.1:c.6083G>C	XP_011529429.1:p.Gly2028Ala
XM_011531128.1:c.6059G>C	XP_011529430.1:p.Gly2020Ala
XM_011531129.1:c.6005G>C	XP_011529431.1:p.Gly2002Ala
XM_011531130.1:c.5981G>C	XP_011529432.1:p.Gly1994Ala
XM_011531131.1:c.5978G>C	XP_011529433.1:p.Gly1993Ala
NM_001110556.2:c.6179G>C MANE Select	NP_001104026.1:p.Gly2060Ala
NM_001456.4:c.6155G>C	NP_001447.2:p.Gly2052Ala