Canonical Allele Identifier: CA415197143

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2136247
• ClinVar RCV Id: RCV003059970
• MyVariant Identifiers: chrX:g.153581690A>G (hg19) ; chrX:g.154353322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353322A>G , CM000685.2:g.154353322A>G	GRCh38
NC_000023.10:g.153581690A>G , CM000685.1:g.153581690A>G	GRCh37
NC_000023.9:g.153234884A>G	NCBI36
NG_011506.1:g.26317T>C
NG_011506.2:g.26317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5972T>C	ENSP00000353467.4:p.Leu1991Pro
ENST00000369850.10:c.5996T>C MANE Select	ENSP00000358866.3:p.Leu1999Pro
ENST00000369856.8:c.5915T>C	ENSP00000358872.4:p.Leu1972Pro
ENST00000422373.6:c.3161-647T>C	ENSP00000416926.2:n.3161-647T>C
ENST00000610817.5:c.6053T>C	ENSP00000480593.2:n.6053T>C
ENST00000673639.2:c.280-4632T>C
ENST00000676696.1:c.6275T>C	ENSP00000503392.1:n.6275T>C
ENST00000678304.1:n.1175T>C
ENST00000344736.8:c.5876T>C	ENSP00000358863.3:p.Leu1959Pro
ENST00000360319.8:c.5972T>C	ENSP00000353467.4:p.Leu1991Pro
ENST00000369850.7:c.5996T>C	ENSP00000358866.3:p.Leu1999Pro
ENST00000369856.7:c.5915T>C	ENSP00000358872.4:p.Leu1972Pro
ENST00000415241.1:c.181T>C
ENST00000420627.5:c.5952T>C	ENSP00000408921.1:n.5952T>C
ENST00000422373.5:c.5972T>C	ENSP00000416926.1:p.Leu1991Pro
ENST00000438732.2:c.670T>C
ENST00000466325.1:n.135T>C
ENST00000490936.5:n.1985T>C
ENST00000610817.4:c.5844+71T>C	ENSP00000480593.1:n.5844+71T>C
NM_001110556.1:c.5996T>C	NP_001104026.1:p.Leu1999Pro
NM_001456.3:c.5972T>C	NP_001447.2:p.Leu1991Pro
XM_011531127.1:c.5900T>C	XP_011529429.1:p.Leu1967Pro
XM_011531128.1:c.5876T>C	XP_011529430.1:p.Leu1959Pro
XM_011531129.1:c.5822T>C	XP_011529431.1:p.Leu1941Pro
XM_011531130.1:c.5798T>C	XP_011529432.1:p.Leu1933Pro
XM_011531131.1:c.5795T>C	XP_011529433.1:p.Leu1932Pro
NM_001110556.2:c.5996T>C MANE Select	NP_001104026.1:p.Leu1999Pro
NM_001456.4:c.5972T>C	NP_001447.2:p.Leu1991Pro