Canonical Allele Identifier: CA415195560

Gene: FLNA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6146T>A	ENSP00000353467.4:p.Leu2049His
ENST00000369850.10:c.6170T>A MANE Select	ENSP00000358866.3:p.Leu2057His
ENST00000369856.8:c.6089T>A	ENSP00000358872.4:p.Leu2030His
ENST00000422373.6:c.3161-382T>A	ENSP00000416926.2:n.3161-382T>A
ENST00000610817.5:c.6227T>A	ENSP00000480593.2:n.6227T>A
ENST00000673639.2:c.280-4367T>A
ENST00000676696.1:c.6449T>A	ENSP00000503392.1:n.6449T>A
ENST00000678304.1:n.1349T>A
ENST00000344736.8:c.6050T>A	ENSP00000358863.3:p.Leu2017His
ENST00000360319.8:c.6146T>A	ENSP00000353467.4:p.Leu2049His
ENST00000369850.7:c.6170T>A	ENSP00000358866.3:p.Leu2057His
ENST00000369856.7:c.6089T>A	ENSP00000358872.4:p.Leu2030His
ENST00000415241.1:c.372T>A
ENST00000420627.5:c.6126T>A	ENSP00000408921.1:n.6126T>A
ENST00000422373.5:c.6146T>A	ENSP00000416926.1:p.Leu2049His
ENST00000444578.1:c.113T>A	ENSP00000397824.1:p.Leu38His
ENST00000466325.1:n.309T>A
ENST00000490936.5:n.2159T>A
ENST00000610817.4:c.5844+336T>A	ENSP00000480593.1:n.5844+336T>A
NM_001110556.1:c.6170T>A	NP_001104026.1:p.Leu2057His
NM_001456.3:c.6146T>A	NP_001447.2:p.Leu2049His
XM_011531127.1:c.6074T>A	XP_011529429.1:p.Leu2025His
XM_011531128.1:c.6050T>A	XP_011529430.1:p.Leu2017His
XM_011531129.1:c.5996T>A	XP_011529431.1:p.Leu1999His
XM_011531130.1:c.5972T>A	XP_011529432.1:p.Leu1991His
XM_011531131.1:c.5969T>A	XP_011529433.1:p.Leu1990His
NM_001110556.2:c.6170T>A MANE Select	NP_001104026.1:p.Leu2057His
NM_001456.4:c.6146T>A	NP_001447.2:p.Leu2049His