Canonical Allele Identifier: CA415192385

Gene: FLNA

Linked Data

• COSMIC: COSM3379575 ; COSM3379576
• MyVariant Identifiers: chrX:g.153580999C>A (hg19) ; chrX:g.154352631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352631C>A , CM000685.2:g.154352631C>A	GRCh38
NC_000023.10:g.153580999C>A , CM000685.1:g.153580999C>A	GRCh37
NC_000023.9:g.153234193C>A	NCBI36
NG_011506.1:g.27008G>T
NG_011506.2:g.27008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6400G>T	ENSP00000353467.4:p.Glu2134Ter
ENST00000369850.10:c.6424G>T MANE Select	ENSP00000358866.3:p.Glu2142Ter
ENST00000369856.8:c.6343G>T	ENSP00000358872.4:p.Glu2115Ter
ENST00000422373.6:c.3205G>T	ENSP00000416926.2:p.Glu1069Ter
ENST00000610817.5:c.6481G>T	ENSP00000480593.2:n.6481G>T
ENST00000673639.2:c.280-3941G>T
ENST00000676696.1:c.6703G>T	ENSP00000503392.1:n.6703G>T
ENST00000678304.1:n.1603G>T
ENST00000344736.8:c.6304G>T	ENSP00000358863.3:p.Glu2102Ter
ENST00000360319.8:c.6400G>T	ENSP00000353467.4:p.Glu2134Ter
ENST00000369850.7:c.6424G>T	ENSP00000358866.3:p.Glu2142Ter
ENST00000369856.7:c.6343G>T	ENSP00000358872.4:p.Glu2115Ter
ENST00000415241.1:c.626G>T
ENST00000420627.5:c.6380G>T	ENSP00000408921.1:n.6380G>T
ENST00000422373.5:c.6400G>T	ENSP00000416926.1:p.Glu2134Ter
ENST00000444578.1:c.322+141G>T	ENSP00000397824.1:n.322+141G>T
ENST00000466325.1:n.735G>T
ENST00000474358.5:n.57G>T
ENST00000490936.5:n.2413G>T
ENST00000498411.1:n.67+186G>T
ENST00000610817.4:c.5845-681G>T	ENSP00000480593.1:n.5845-681G>T
NM_001110556.1:c.6424G>T	NP_001104026.1:p.Glu2142Ter
NM_001456.3:c.6400G>T	NP_001447.2:p.Glu2134Ter
XM_011531127.1:c.6328G>T	XP_011529429.1:p.Glu2110Ter
XM_011531128.1:c.6304G>T	XP_011529430.1:p.Glu2102Ter
XM_011531129.1:c.6250G>T	XP_011529431.1:p.Glu2084Ter
XM_011531130.1:c.6226G>T	XP_011529432.1:p.Glu2076Ter
XM_011531131.1:c.6223G>T	XP_011529433.1:p.Glu2075Ter
NM_001110556.2:c.6424G>T MANE Select	NP_001104026.1:p.Glu2142Ter
NM_001456.4:c.6400G>T	NP_001447.2:p.Glu2134Ter