Canonical Allele Identifier: CA10560123

Gene: FLNA

Linked Data

• ClinVar Variation Id: 734102
• ClinVar RCV Id: RCV003768799
• dbSNP Id: rs782255283
• ExAC: X:153581230 G / T
• gnomAD v2: X-153581230-G-T
• gnomAD v3: X-154352862-G-T
• gnomAD v4: X-154352862-G-T
• MyVariant Identifiers: chrX:g.153581230G>T (hg19) ; chrX:g.154352862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352862G>T , CM000685.2:g.154352862G>T	GRCh38
NC_000023.10:g.153581230G>T , CM000685.1:g.153581230G>T	GRCh37
NC_000023.9:g.153234424G>T	NCBI36
NG_011506.1:g.26777C>A
NG_011506.2:g.26777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6265C>A	ENSP00000353467.4:p.Leu2089Met
ENST00000369850.10:c.6289C>A MANE Select	ENSP00000358866.3:p.Leu2097Met
ENST00000369856.8:c.6208C>A	ENSP00000358872.4:p.Leu2070Met
ENST00000422373.6:c.3161-187C>A	ENSP00000416926.2:n.3161-187C>A
ENST00000610817.5:c.6346C>A	ENSP00000480593.2:n.6346C>A
ENST00000673639.2:c.280-4172C>A
ENST00000676696.1:c.6568C>A	ENSP00000503392.1:n.6568C>A
ENST00000678304.1:n.1468C>A
ENST00000344736.8:c.6169C>A	ENSP00000358863.3:p.Leu2057Met
ENST00000360319.8:c.6265C>A	ENSP00000353467.4:p.Leu2089Met
ENST00000369850.7:c.6289C>A	ENSP00000358866.3:p.Leu2097Met
ENST00000369856.7:c.6208C>A	ENSP00000358872.4:p.Leu2070Met
ENST00000415241.1:c.491C>A
ENST00000420627.5:c.6245C>A	ENSP00000408921.1:n.6245C>A
ENST00000422373.5:c.6265C>A	ENSP00000416926.1:p.Leu2089Met
ENST00000444578.1:c.232C>A	ENSP00000397824.1:p.Leu78Met
ENST00000466325.1:n.504C>A
ENST00000490936.5:n.2278C>A
ENST00000498411.1:n.22C>A
ENST00000610817.4:c.5844+531C>A	ENSP00000480593.1:n.5844+531C>A
NM_001110556.1:c.6289C>A	NP_001104026.1:p.Leu2097Met
NM_001456.3:c.6265C>A	NP_001447.2:p.Leu2089Met
XM_011531127.1:c.6193C>A	XP_011529429.1:p.Leu2065Met
XM_011531128.1:c.6169C>A	XP_011529430.1:p.Leu2057Met
XM_011531129.1:c.6115C>A	XP_011529431.1:p.Leu2039Met
XM_011531130.1:c.6091C>A	XP_011529432.1:p.Leu2031Met
XM_011531131.1:c.6088C>A	XP_011529433.1:p.Leu2030Met
NM_001110556.2:c.6289C>A MANE Select	NP_001104026.1:p.Leu2097Met
NM_001456.4:c.6265C>A	NP_001447.2:p.Leu2089Met