Canonical Allele Identifier: CA415195554

Gene: FLNA

Linked Data

• MyVariant Identifiers: chrX:g.153581425A>C (hg19) ; chrX:g.154353057A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353057A>C , CM000685.2:g.154353057A>C	GRCh38
NC_000023.10:g.153581425A>C , CM000685.1:g.153581425A>C	GRCh37
NC_000023.9:g.153234619A>C	NCBI36
NG_011506.1:g.26582T>G
NG_011506.2:g.26582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6146T>G	ENSP00000353467.4:p.Leu2049Arg
ENST00000369850.10:c.6170T>G MANE Select	ENSP00000358866.3:p.Leu2057Arg
ENST00000369856.8:c.6089T>G	ENSP00000358872.4:p.Leu2030Arg
ENST00000422373.6:c.3161-382T>G	ENSP00000416926.2:n.3161-382T>G
ENST00000610817.5:c.6227T>G	ENSP00000480593.2:n.6227T>G
ENST00000673639.2:c.280-4367T>G
ENST00000676696.1:c.6449T>G	ENSP00000503392.1:n.6449T>G
ENST00000678304.1:n.1349T>G
ENST00000344736.8:c.6050T>G	ENSP00000358863.3:p.Leu2017Arg
ENST00000360319.8:c.6146T>G	ENSP00000353467.4:p.Leu2049Arg
ENST00000369850.7:c.6170T>G	ENSP00000358866.3:p.Leu2057Arg
ENST00000369856.7:c.6089T>G	ENSP00000358872.4:p.Leu2030Arg
ENST00000415241.1:c.372T>G
ENST00000420627.5:c.6126T>G	ENSP00000408921.1:n.6126T>G
ENST00000422373.5:c.6146T>G	ENSP00000416926.1:p.Leu2049Arg
ENST00000444578.1:c.113T>G	ENSP00000397824.1:p.Leu38Arg
ENST00000466325.1:n.309T>G
ENST00000490936.5:n.2159T>G
ENST00000610817.4:c.5844+336T>G	ENSP00000480593.1:n.5844+336T>G
NM_001110556.1:c.6170T>G	NP_001104026.1:p.Leu2057Arg
NM_001456.3:c.6146T>G	NP_001447.2:p.Leu2049Arg
XM_011531127.1:c.6074T>G	XP_011529429.1:p.Leu2025Arg
XM_011531128.1:c.6050T>G	XP_011529430.1:p.Leu2017Arg
XM_011531129.1:c.5996T>G	XP_011529431.1:p.Leu1999Arg
XM_011531130.1:c.5972T>G	XP_011529432.1:p.Leu1991Arg
XM_011531131.1:c.5969T>G	XP_011529433.1:p.Leu1990Arg
NM_001110556.2:c.6170T>G MANE Select	NP_001104026.1:p.Leu2057Arg
NM_001456.4:c.6146T>G	NP_001447.2:p.Leu2049Arg