Canonical Allele Identifier: CA415184798
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350932C>A , CM000685.2:g.154350932C>A GRCh38
NC_000023.10:g.153579300C>A , CM000685.1:g.153579300C>A GRCh37
NC_000023.9:g.153232494C>A NCBI36
NG_011506.1:g.28707G>T
NG_011506.2:g.28707G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.7109G>T ENSP00000353467.4:p.Cys2370Phe
ENST00000369850.10:c.7133G>T MANE Select ENSP00000358866.3:p.Cys2378Phe
ENST00000369856.8:c.7052G>T ENSP00000358872.4:p.Cys2351Phe
ENST00000422373.6:c.3914G>T ENSP00000416926.2:p.Cys1305Phe
ENST00000610817.5:c.7190G>T ENSP00000480593.2:n.7190G>T
ENST00000673639.2:c.280-2242G>T
ENST00000676696.1:c.7412G>T ENSP00000503392.1:n.7412G>T
ENST00000678304.1:n.2851G>T
ENST00000344736.8:c.7013G>T ENSP00000358863.3:p.Cys2338Phe
ENST00000360319.8:c.7109G>T ENSP00000353467.4:p.Cys2370Phe
ENST00000369850.7:c.7133G>T ENSP00000358866.3:p.Cys2378Phe
ENST00000369856.7:c.7052G>T ENSP00000358872.4:p.Cys2351Phe
ENST00000420627.5:c.7089G>T ENSP00000408921.1:n.7089G>T
ENST00000422373.5:c.7109G>T ENSP00000416926.1:p.Cys2370Phe
ENST00000490936.5:n.3661G>T
ENST00000498411.1:n.67+1885G>T
ENST00000498491.5:n.174G>T
ENST00000610817.4:c.6137G>T ENSP00000480593.1:p.Cys2046Phe
NM_001110556.1:c.7133G>T NP_001104026.1:p.Cys2378Phe
NM_001456.3:c.7109G>T NP_001447.2:p.Cys2370Phe
XM_011531127.1:c.7037G>T XP_011529429.1:p.Cys2346Phe
XM_011531128.1:c.7013G>T XP_011529430.1:p.Cys2338Phe
XM_011531129.1:c.6959G>T XP_011529431.1:p.Cys2320Phe
XM_011531130.1:c.6935G>T XP_011529432.1:p.Cys2312Phe
XM_011531131.1:c.6932G>T XP_011529433.1:p.Cys2311Phe
NM_001110556.2:c.7133G>T MANE Select NP_001104026.1:p.Cys2378Phe
NM_001456.4:c.7109G>T NP_001447.2:p.Cys2370Phe