Canonical Allele Identifier: CA10559938

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350181G>A , CM000685.2:g.154350181G>A	GRCh38
NC_000023.10:g.153578549G>A , CM000685.1:g.153578549G>A	GRCh37
NC_000023.9:g.153231743G>A	NCBI36
NG_011506.1:g.29458C>T
NG_011506.2:g.29458C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7183C>T MANE Select	NP_001104026.1:p.Arg2395Trp
ENST00000369850.10:c.7183C>T MANE Select	ENSP00000358866.3:p.Arg2395Trp
NM_001110556.1:c.7183C>T	NP_001104026.1:p.Arg2395Trp
NM_001456.3:c.7159C>T	NP_001447.2:p.Arg2387Trp
NM_001456.4:c.7159C>T	NP_001447.2:p.Arg2387Trp
ENST00000344736.8:c.7063C>T	ENSP00000358863.3:p.Arg2355Trp
ENST00000360319.8:c.7159C>T	ENSP00000353467.4:p.Arg2387Trp
ENST00000360319.9:c.7159C>T	ENSP00000353467.4:p.Arg2387Trp
ENST00000369850.7:c.7183C>T	ENSP00000358866.3:p.Arg2395Trp
ENST00000369856.7:c.7102C>T	ENSP00000358872.4:p.Arg2368Trp
ENST00000369856.8:c.7102C>T	ENSP00000358872.4:p.Arg2368Trp
ENST00000420627.5:c.7139C>T	ENSP00000408921.1:n.7139C>T
ENST00000422373.5:c.7159C>T	ENSP00000416926.1:p.Arg2387Trp
ENST00000422373.6:c.3964C>T	ENSP00000416926.2:p.Arg1322Trp
ENST00000462590.1:n.175C>T
ENST00000490936.5:n.4412C>T
ENST00000498411.1:n.68-1351C>T
ENST00000498491.5:n.224C>T
ENST00000610817.4:c.6187C>T	ENSP00000480593.1:p.Arg2063Trp
ENST00000610817.5:c.7240C>T	ENSP00000480593.2:n.7240C>T
ENST00000673639.2:c.280-1491C>T
ENST00000676696.1:c.7462C>T	ENSP00000503392.1:n.7462C>T
ENST00000678304.1:n.2901C>T
XM_011531127.1:c.7087C>T	XP_011529429.1:p.Arg2363Trp
XM_011531128.1:c.7063C>T	XP_011529430.1:p.Arg2355Trp
XM_011531129.1:c.7009C>T	XP_011529431.1:p.Arg2337Trp
XM_011531130.1:c.6985C>T	XP_011529432.1:p.Arg2329Trp
XM_011531131.1:c.6982C>T	XP_011529433.1:p.Arg2328Trp