Canonical Allele Identifier: CA10560062

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352349G>A , CM000685.2:g.154352349G>A	GRCh38
NC_000023.10:g.153580717G>A , CM000685.1:g.153580717G>A	GRCh37
NC_000023.9:g.153233911G>A	NCBI36
NG_011506.1:g.27290C>T
NG_011506.2:g.27290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6601C>T MANE Select	NP_001104026.1:p.Arg2201Cys
ENST00000369850.10:c.6601C>T MANE Select	ENSP00000358866.3:p.Arg2201Cys
NM_001110556.1:c.6601C>T	NP_001104026.1:p.Arg2201Cys
NM_001456.3:c.6577C>T	NP_001447.2:p.Arg2193Cys
NM_001456.4:c.6577C>T	NP_001447.2:p.Arg2193Cys
ENST00000344736.8:c.6481C>T	ENSP00000358863.3:p.Arg2161Cys
ENST00000360319.8:c.6577C>T	ENSP00000353467.4:p.Arg2193Cys
ENST00000360319.9:c.6577C>T	ENSP00000353467.4:p.Arg2193Cys
ENST00000369850.7:c.6601C>T	ENSP00000358866.3:p.Arg2201Cys
ENST00000369856.7:c.6520C>T	ENSP00000358872.4:p.Arg2174Cys
ENST00000369856.8:c.6520C>T	ENSP00000358872.4:p.Arg2174Cys
ENST00000420627.5:c.6557C>T	ENSP00000408921.1:n.6557C>T
ENST00000422373.5:c.6577C>T	ENSP00000416926.1:p.Arg2193Cys
ENST00000422373.6:c.3382C>T	ENSP00000416926.2:p.Arg1128Cys
ENST00000444578.1:c.421C>T	ENSP00000397824.1:p.Arg141Cys
ENST00000474358.5:n.234C>T
ENST00000490936.5:n.2590C>T
ENST00000498411.1:n.67+468C>T
ENST00000610817.4:c.5845-399C>T	ENSP00000480593.1:n.5845-399C>T
ENST00000610817.5:c.6658C>T	ENSP00000480593.2:n.6658C>T
ENST00000673639.2:c.280-3659C>T
ENST00000676696.1:c.6880C>T	ENSP00000503392.1:n.6880C>T
ENST00000678304.1:n.1780C>T
XM_011531127.1:c.6505C>T	XP_011529429.1:p.Arg2169Cys
XM_011531128.1:c.6481C>T	XP_011529430.1:p.Arg2161Cys
XM_011531129.1:c.6427C>T	XP_011529431.1:p.Arg2143Cys
XM_011531130.1:c.6403C>T	XP_011529432.1:p.Arg2135Cys
XM_011531131.1:c.6400C>T	XP_011529433.1:p.Arg2134Cys