Canonical Allele Identifier: CA415196610
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353187T>A , CM000685.2:g.154353187T>A GRCh38
NC_000023.10:g.153581555T>A , CM000685.1:g.153581555T>A GRCh37
NC_000023.9:g.153234749T>A NCBI36
NG_011506.1:g.26452A>T
NG_011506.2:g.26452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6016A>T ENSP00000353467.4:p.Lys2006Ter
ENST00000369850.10:c.6040A>T MANE Select ENSP00000358866.3:p.Lys2014Ter
ENST00000369856.8:c.5959A>T ENSP00000358872.4:p.Lys1987Ter
ENST00000422373.6:c.3161-512A>T ENSP00000416926.2:n.3161-512A>T
ENST00000610817.5:c.6097A>T ENSP00000480593.2:n.6097A>T
ENST00000673639.2:c.280-4497A>T
ENST00000676696.1:c.6319A>T ENSP00000503392.1:n.6319A>T
ENST00000678304.1:n.1219A>T
ENST00000344736.8:c.5920A>T ENSP00000358863.3:p.Lys1974Ter
ENST00000360319.8:c.6016A>T ENSP00000353467.4:p.Lys2006Ter
ENST00000369850.7:c.6040A>T ENSP00000358866.3:p.Lys2014Ter
ENST00000369856.7:c.5959A>T ENSP00000358872.4:p.Lys1987Ter
ENST00000415241.1:c.242A>T
ENST00000420627.5:c.5996A>T ENSP00000408921.1:n.5996A>T
ENST00000422373.5:c.6016A>T ENSP00000416926.1:p.Lys2006Ter
ENST00000466325.1:n.179A>T
ENST00000490936.5:n.2029A>T
ENST00000610817.4:c.5844+206A>T ENSP00000480593.1:n.5844+206A>T
NM_001110556.1:c.6040A>T NP_001104026.1:p.Lys2014Ter
NM_001456.3:c.6016A>T NP_001447.2:p.Lys2006Ter
XM_011531127.1:c.5944A>T XP_011529429.1:p.Lys1982Ter
XM_011531128.1:c.5920A>T XP_011529430.1:p.Lys1974Ter
XM_011531129.1:c.5866A>T XP_011529431.1:p.Lys1956Ter
XM_011531130.1:c.5842A>T XP_011529432.1:p.Lys1948Ter
XM_011531131.1:c.5839A>T XP_011529433.1:p.Lys1947Ter
NM_001110556.2:c.6040A>T MANE Select NP_001104026.1:p.Lys2014Ter
NM_001456.4:c.6016A>T NP_001447.2:p.Lys2006Ter