Canonical Allele Identifier: CA519706716

Gene: FLNA

Linked Data

• gnomAD v4: X-154353169-G-A
• MyVariant Identifiers: chrX:g.153581537G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353169G>A , CM000685.2:g.154353169G>A	GRCh38
NC_000023.10:g.153581537G>A , CM000685.1:g.153581537G>A	GRCh37
NC_000023.9:g.153234731G>A	NCBI36
NG_011506.1:g.26470C>T
NG_011506.2:g.26470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6034C>T	ENSP00000353467.4:p.Leu2012=
ENST00000369850.10:c.6058C>T MANE Select	ENSP00000358866.3:p.Leu2020=
ENST00000369856.8:c.5977C>T	ENSP00000358872.4:p.Leu1993=
ENST00000422373.6:c.3161-494C>T	ENSP00000416926.2:n.3161-494C>T
ENST00000610817.5:c.6115C>T	ENSP00000480593.2:n.6115C>T
ENST00000673639.2:c.280-4479C>T
ENST00000676696.1:c.6337C>T	ENSP00000503392.1:n.6337C>T
ENST00000678304.1:n.1237C>T
ENST00000344736.8:c.5938C>T	ENSP00000358863.3:p.Leu1980=
ENST00000360319.8:c.6034C>T	ENSP00000353467.4:p.Leu2012=
ENST00000369850.7:c.6058C>T	ENSP00000358866.3:p.Leu2020=
ENST00000369856.7:c.5977C>T	ENSP00000358872.4:p.Leu1993=
ENST00000415241.1:c.260C>T
ENST00000420627.5:c.6014C>T	ENSP00000408921.1:n.6014C>T
ENST00000422373.5:c.6034C>T	ENSP00000416926.1:p.Leu2012=
ENST00000444578.1:c.1C>T	ENSP00000397824.1:p.Leu1=
ENST00000466325.1:n.197C>T
ENST00000490936.5:n.2047C>T
ENST00000610817.4:c.5844+224C>T	ENSP00000480593.1:n.5844+224C>T
NM_001110556.1:c.6058C>T	NP_001104026.1:p.Leu2020=
NM_001456.3:c.6034C>T	NP_001447.2:p.Leu2012=
XM_011531127.1:c.5962C>T	XP_011529429.1:p.Leu1988=
XM_011531128.1:c.5938C>T	XP_011529430.1:p.Leu1980=
XM_011531129.1:c.5884C>T	XP_011529431.1:p.Leu1962=
XM_011531130.1:c.5860C>T	XP_011529432.1:p.Leu1954=
XM_011531131.1:c.5857C>T	XP_011529433.1:p.Leu1953=
NM_001110556.2:c.6058C>T MANE Select	NP_001104026.1:p.Leu2020=
NM_001456.4:c.6034C>T	NP_001447.2:p.Leu2012=