Canonical Allele Identifier: CA415192630

Gene: FLNA

Linked Data

• MyVariant Identifiers: chrX:g.153581029C>A (hg19) ; chrX:g.154352661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352661C>A , CM000685.2:g.154352661C>A	GRCh38
NC_000023.10:g.153581029C>A , CM000685.1:g.153581029C>A	GRCh37
NC_000023.9:g.153234223C>A	NCBI36
NG_011506.1:g.26978G>T
NG_011506.2:g.26978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6370G>T	ENSP00000353467.4:p.Val2124Leu
ENST00000369850.10:c.6394G>T MANE Select	ENSP00000358866.3:p.Val2132Leu
ENST00000369856.8:c.6313G>T	ENSP00000358872.4:p.Val2105Leu
ENST00000422373.6:c.3175G>T	ENSP00000416926.2:p.Val1059Leu
ENST00000610817.5:c.6451G>T	ENSP00000480593.2:n.6451G>T
ENST00000673639.2:c.280-3971G>T
ENST00000676696.1:c.6673G>T	ENSP00000503392.1:n.6673G>T
ENST00000678304.1:n.1573G>T
ENST00000344736.8:c.6274G>T	ENSP00000358863.3:p.Val2092Leu
ENST00000360319.8:c.6370G>T	ENSP00000353467.4:p.Val2124Leu
ENST00000369850.7:c.6394G>T	ENSP00000358866.3:p.Val2132Leu
ENST00000369856.7:c.6313G>T	ENSP00000358872.4:p.Val2105Leu
ENST00000415241.1:c.596G>T
ENST00000420627.5:c.6350G>T	ENSP00000408921.1:n.6350G>T
ENST00000422373.5:c.6370G>T	ENSP00000416926.1:p.Val2124Leu
ENST00000444578.1:c.322+111G>T	ENSP00000397824.1:n.322+111G>T
ENST00000466325.1:n.705G>T
ENST00000474358.5:n.27G>T
ENST00000490936.5:n.2383G>T
ENST00000498411.1:n.67+156G>T
ENST00000610817.4:c.5845-711G>T	ENSP00000480593.1:n.5845-711G>T
NM_001110556.1:c.6394G>T	NP_001104026.1:p.Val2132Leu
NM_001456.3:c.6370G>T	NP_001447.2:p.Val2124Leu
XM_011531127.1:c.6298G>T	XP_011529429.1:p.Val2100Leu
XM_011531128.1:c.6274G>T	XP_011529430.1:p.Val2092Leu
XM_011531129.1:c.6220G>T	XP_011529431.1:p.Val2074Leu
XM_011531130.1:c.6196G>T	XP_011529432.1:p.Val2066Leu
XM_011531131.1:c.6193G>T	XP_011529433.1:p.Val2065Leu
NM_001110556.2:c.6394G>T MANE Select	NP_001104026.1:p.Val2132Leu
NM_001456.4:c.6370G>T	NP_001447.2:p.Val2124Leu