Canonical Allele Identifier: CA415195584

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1695515
• ClinVar RCV Id: RCV002265150
• dbSNP Id: rs2067633678
• MyVariant Identifiers: chrX:g.153581428C>T (hg19) ; chrX:g.154353060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353060C>T , CM000685.2:g.154353060C>T	GRCh38
NC_000023.10:g.153581428C>T , CM000685.1:g.153581428C>T	GRCh37
NC_000023.9:g.153234622C>T	NCBI36
NG_011506.1:g.26579G>A
NG_011506.2:g.26579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6143G>A	ENSP00000353467.4:p.Gly2048Asp
ENST00000369850.10:c.6167G>A MANE Select	ENSP00000358866.3:p.Gly2056Asp
ENST00000369856.8:c.6086G>A	ENSP00000358872.4:p.Gly2029Asp
ENST00000422373.6:c.3161-385G>A	ENSP00000416926.2:n.3161-385G>A
ENST00000610817.5:c.6224G>A	ENSP00000480593.2:n.6224G>A
ENST00000673639.2:c.280-4370G>A
ENST00000676696.1:c.6446G>A	ENSP00000503392.1:n.6446G>A
ENST00000678304.1:n.1346G>A
ENST00000344736.8:c.6047G>A	ENSP00000358863.3:p.Gly2016Asp
ENST00000360319.8:c.6143G>A	ENSP00000353467.4:p.Gly2048Asp
ENST00000369850.7:c.6167G>A	ENSP00000358866.3:p.Gly2056Asp
ENST00000369856.7:c.6086G>A	ENSP00000358872.4:p.Gly2029Asp
ENST00000415241.1:c.369G>A
ENST00000420627.5:c.6123G>A	ENSP00000408921.1:n.6123G>A
ENST00000422373.5:c.6143G>A	ENSP00000416926.1:p.Gly2048Asp
ENST00000444578.1:c.110G>A	ENSP00000397824.1:p.Gly37Asp
ENST00000466325.1:n.306G>A
ENST00000490936.5:n.2156G>A
ENST00000610817.4:c.5844+333G>A	ENSP00000480593.1:n.5844+333G>A
NM_001110556.1:c.6167G>A	NP_001104026.1:p.Gly2056Asp
NM_001456.3:c.6143G>A	NP_001447.2:p.Gly2048Asp
XM_011531127.1:c.6071G>A	XP_011529429.1:p.Gly2024Asp
XM_011531128.1:c.6047G>A	XP_011529430.1:p.Gly2016Asp
XM_011531129.1:c.5993G>A	XP_011529431.1:p.Gly1998Asp
XM_011531130.1:c.5969G>A	XP_011529432.1:p.Gly1990Asp
XM_011531131.1:c.5966G>A	XP_011529433.1:p.Gly1989Asp
NM_001110556.2:c.6167G>A MANE Select	NP_001104026.1:p.Gly2056Asp
NM_001456.4:c.6143G>A	NP_001447.2:p.Gly2048Asp