Canonical Allele Identifier: CA10560165

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1751419
• ClinVar RCV Id: RCV002359967
• dbSNP Id: rs782324381
• ExAC: X:153581493 G / T
• gnomAD v2: X-153581493-G-T
• MyVariant Identifiers: chrX:g.153581493G>T (hg19) ; chrX:g.154353125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353125G>T , CM000685.2:g.154353125G>T	GRCh38
NC_000023.10:g.153581493G>T , CM000685.1:g.153581493G>T	GRCh37
NC_000023.9:g.153234687G>T	NCBI36
NG_011506.1:g.26514C>A
NG_011506.2:g.26514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6078C>A	ENSP00000353467.4:p.Pro2026=
ENST00000369850.10:c.6102C>A MANE Select	ENSP00000358866.3:p.Pro2034=
ENST00000369856.8:c.6021C>A	ENSP00000358872.4:p.Pro2007=
ENST00000422373.6:c.3161-450C>A	ENSP00000416926.2:n.3161-450C>A
ENST00000610817.5:c.6159C>A	ENSP00000480593.2:n.6159C>A
ENST00000673639.2:c.280-4435C>A
ENST00000676696.1:c.6381C>A	ENSP00000503392.1:n.6381C>A
ENST00000678304.1:n.1281C>A
ENST00000344736.8:c.5982C>A	ENSP00000358863.3:p.Pro1994=
ENST00000360319.8:c.6078C>A	ENSP00000353467.4:p.Pro2026=
ENST00000369850.7:c.6102C>A	ENSP00000358866.3:p.Pro2034=
ENST00000369856.7:c.6021C>A	ENSP00000358872.4:p.Pro2007=
ENST00000415241.1:c.304C>A
ENST00000420627.5:c.6058C>A	ENSP00000408921.1:n.6058C>A
ENST00000422373.5:c.6078C>A	ENSP00000416926.1:p.Pro2026=
ENST00000444578.1:c.45C>A	ENSP00000397824.1:p.Pro15=
ENST00000466325.1:n.241C>A
ENST00000490936.5:n.2091C>A
ENST00000610817.4:c.5844+268C>A	ENSP00000480593.1:n.5844+268C>A
NM_001110556.1:c.6102C>A	NP_001104026.1:p.Pro2034=
NM_001456.3:c.6078C>A	NP_001447.2:p.Pro2026=
XM_011531127.1:c.6006C>A	XP_011529429.1:p.Pro2002=
XM_011531128.1:c.5982C>A	XP_011529430.1:p.Pro1994=
XM_011531129.1:c.5928C>A	XP_011529431.1:p.Pro1976=
XM_011531130.1:c.5904C>A	XP_011529432.1:p.Pro1968=
XM_011531131.1:c.5901C>A	XP_011529433.1:p.Pro1967=
NM_001110556.2:c.6102C>A MANE Select	NP_001104026.1:p.Pro2034=
NM_001456.4:c.6078C>A	NP_001447.2:p.Pro2026=