Canonical Allele Identifier: CA415189739

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352243C>A , CM000685.2:g.154352243C>A	GRCh38
NC_000023.10:g.153580611C>A , CM000685.1:g.153580611C>A	GRCh37
NC_000023.9:g.153233805C>A	NCBI36
NG_011506.1:g.27396G>T
NG_011506.2:g.27396G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6707G>T MANE Select	NP_001104026.1:p.Gly2236Val
ENST00000369850.10:c.6707G>T MANE Select	ENSP00000358866.3:p.Gly2236Val
NM_001110556.1:c.6707G>T	NP_001104026.1:p.Gly2236Val
NM_001456.3:c.6683G>T	NP_001447.2:p.Gly2228Val
NM_001456.4:c.6683G>T	NP_001447.2:p.Gly2228Val
ENST00000344736.8:c.6587G>T	ENSP00000358863.3:p.Gly2196Val
ENST00000360319.8:c.6683G>T	ENSP00000353467.4:p.Gly2228Val
ENST00000360319.9:c.6683G>T	ENSP00000353467.4:p.Gly2228Val
ENST00000369850.7:c.6707G>T	ENSP00000358866.3:p.Gly2236Val
ENST00000369856.7:c.6626G>T	ENSP00000358872.4:p.Gly2209Val
ENST00000369856.8:c.6626G>T	ENSP00000358872.4:p.Gly2209Val
ENST00000420627.5:c.6663G>T	ENSP00000408921.1:n.6663G>T
ENST00000422373.5:c.6683G>T	ENSP00000416926.1:p.Gly2228Val
ENST00000422373.6:c.3488G>T	ENSP00000416926.2:p.Gly1163Val
ENST00000444578.1:c.527G>T	ENSP00000397824.1:p.Gly176Val
ENST00000474358.5:n.340G>T
ENST00000490936.5:n.2696G>T
ENST00000498411.1:n.67+574G>T
ENST00000610817.4:c.5845-293G>T	ENSP00000480593.1:n.5845-293G>T
ENST00000610817.5:c.6764G>T	ENSP00000480593.2:n.6764G>T
ENST00000673639.2:c.280-3553G>T
ENST00000676696.1:c.6986G>T	ENSP00000503392.1:n.6986G>T
ENST00000678304.1:n.1886G>T
XM_011531127.1:c.6611G>T	XP_011529429.1:p.Gly2204Val
XM_011531128.1:c.6587G>T	XP_011529430.1:p.Gly2196Val
XM_011531129.1:c.6533G>T	XP_011529431.1:p.Gly2178Val
XM_011531130.1:c.6509G>T	XP_011529432.1:p.Gly2170Val
XM_011531131.1:c.6506G>T	XP_011529433.1:p.Gly2169Val