Canonical Allele Identifier: CA519706170

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1751905
• ClinVar RCV Id: RCV002360453 ; RCV004545302
• gnomAD v4: X-154353047-G-A
• MyVariant Identifiers: chrX:g.153581415G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353047G>A , CM000685.2:g.154353047G>A	GRCh38
NC_000023.10:g.153581415G>A , CM000685.1:g.153581415G>A	GRCh37
NC_000023.9:g.153234609G>A	NCBI36
NG_011506.1:g.26592C>T
NG_011506.2:g.26592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6156C>T	ENSP00000353467.4:p.Gly2052=
ENST00000369850.10:c.6180C>T MANE Select	ENSP00000358866.3:p.Gly2060=
ENST00000369856.8:c.6099C>T	ENSP00000358872.4:p.Gly2033=
ENST00000422373.6:c.3161-372C>T	ENSP00000416926.2:n.3161-372C>T
ENST00000610817.5:c.6237C>T	ENSP00000480593.2:n.6237C>T
ENST00000673639.2:c.280-4357C>T
ENST00000676696.1:c.6459C>T	ENSP00000503392.1:n.6459C>T
ENST00000678304.1:n.1359C>T
ENST00000344736.8:c.6060C>T	ENSP00000358863.3:p.Gly2020=
ENST00000360319.8:c.6156C>T	ENSP00000353467.4:p.Gly2052=
ENST00000369850.7:c.6180C>T	ENSP00000358866.3:p.Gly2060=
ENST00000369856.7:c.6099C>T	ENSP00000358872.4:p.Gly2033=
ENST00000415241.1:c.382C>T
ENST00000420627.5:c.6136C>T	ENSP00000408921.1:n.6136C>T
ENST00000422373.5:c.6156C>T	ENSP00000416926.1:p.Gly2052=
ENST00000444578.1:c.123C>T	ENSP00000397824.1:p.Gly41=
ENST00000466325.1:n.319C>T
ENST00000490936.5:n.2169C>T
ENST00000610817.4:c.5844+346C>T	ENSP00000480593.1:n.5844+346C>T
NM_001110556.1:c.6180C>T	NP_001104026.1:p.Gly2060=
NM_001456.3:c.6156C>T	NP_001447.2:p.Gly2052=
XM_011531127.1:c.6084C>T	XP_011529429.1:p.Gly2028=
XM_011531128.1:c.6060C>T	XP_011529430.1:p.Gly2020=
XM_011531129.1:c.6006C>T	XP_011529431.1:p.Gly2002=
XM_011531130.1:c.5982C>T	XP_011529432.1:p.Gly1994=
XM_011531131.1:c.5979C>T	XP_011529433.1:p.Gly1993=
NM_001110556.2:c.6180C>T MANE Select	NP_001104026.1:p.Gly2060=
NM_001456.4:c.6156C>T	NP_001447.2:p.Gly2052=