Canonical Allele Identifier: CA415195229

Gene: FLNA

Linked Data

• ClinVar Variation Id: 492842
• ClinVar RCV Id: RCV000582325 ; RCV001071492
• dbSNP Id: rs1557176102
• MyVariant Identifiers: chrX:g.153581396C>T (hg19) ; chrX:g.154353028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353028C>T , CM000685.2:g.154353028C>T	GRCh38
NC_000023.10:g.153581396C>T , CM000685.1:g.153581396C>T	GRCh37
NC_000023.9:g.153234590C>T	NCBI36
NG_011506.1:g.26611G>A
NG_011506.2:g.26611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6175G>A	ENSP00000353467.4:p.Glu2059Lys
ENST00000369850.10:c.6199G>A MANE Select	ENSP00000358866.3:p.Glu2067Lys
ENST00000369856.8:c.6118G>A	ENSP00000358872.4:p.Glu2040Lys
ENST00000422373.6:c.3161-353G>A	ENSP00000416926.2:n.3161-353G>A
ENST00000610817.5:c.6256G>A	ENSP00000480593.2:n.6256G>A
ENST00000673639.2:c.280-4338G>A
ENST00000676696.1:c.6478G>A	ENSP00000503392.1:n.6478G>A
ENST00000678304.1:n.1378G>A
ENST00000344736.8:c.6079G>A	ENSP00000358863.3:p.Glu2027Lys
ENST00000360319.8:c.6175G>A	ENSP00000353467.4:p.Glu2059Lys
ENST00000369850.7:c.6199G>A	ENSP00000358866.3:p.Glu2067Lys
ENST00000369856.7:c.6118G>A	ENSP00000358872.4:p.Glu2040Lys
ENST00000415241.1:c.401G>A
ENST00000420627.5:c.6155G>A	ENSP00000408921.1:n.6155G>A
ENST00000422373.5:c.6175G>A	ENSP00000416926.1:p.Glu2059Lys
ENST00000444578.1:c.142G>A	ENSP00000397824.1:p.Glu48Lys
ENST00000466325.1:n.338G>A
ENST00000490936.5:n.2188G>A
ENST00000610817.4:c.5844+365G>A	ENSP00000480593.1:n.5844+365G>A
NM_001110556.1:c.6199G>A	NP_001104026.1:p.Glu2067Lys
NM_001456.3:c.6175G>A	NP_001447.2:p.Glu2059Lys
XM_011531127.1:c.6103G>A	XP_011529429.1:p.Glu2035Lys
XM_011531128.1:c.6079G>A	XP_011529430.1:p.Glu2027Lys
XM_011531129.1:c.6025G>A	XP_011529431.1:p.Glu2009Lys
XM_011531130.1:c.6001G>A	XP_011529432.1:p.Glu2001Lys
XM_011531131.1:c.5998G>A	XP_011529433.1:p.Glu2000Lys
NM_001110556.2:c.6199G>A MANE Select	NP_001104026.1:p.Glu2067Lys
NM_001456.4:c.6175G>A	NP_001447.2:p.Glu2059Lys