Canonical Allele Identifier: CA415194372
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352887G>T , CM000685.2:g.154352887G>T GRCh38
NC_000023.10:g.153581255G>T , CM000685.1:g.153581255G>T GRCh37
NC_000023.9:g.153234449G>T NCBI36
NG_011506.1:g.26752C>A
NG_011506.2:g.26752C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6240C>A ENSP00000353467.4:p.Ser2080Arg
ENST00000369850.10:c.6264C>A MANE Select ENSP00000358866.3:p.Ser2088Arg
ENST00000369856.8:c.6183C>A ENSP00000358872.4:p.Ser2061Arg
ENST00000422373.6:c.3161-212C>A ENSP00000416926.2:n.3161-212C>A
ENST00000610817.5:c.6321C>A ENSP00000480593.2:n.6321C>A
ENST00000673639.2:c.280-4197C>A
ENST00000676696.1:c.6543C>A ENSP00000503392.1:n.6543C>A
ENST00000678304.1:n.1443C>A
ENST00000344736.8:c.6144C>A ENSP00000358863.3:p.Ser2048Arg
ENST00000360319.8:c.6240C>A ENSP00000353467.4:p.Ser2080Arg
ENST00000369850.7:c.6264C>A ENSP00000358866.3:p.Ser2088Arg
ENST00000369856.7:c.6183C>A ENSP00000358872.4:p.Ser2061Arg
ENST00000415241.1:c.466C>A
ENST00000420627.5:c.6220C>A ENSP00000408921.1:n.6220C>A
ENST00000422373.5:c.6240C>A ENSP00000416926.1:p.Ser2080Arg
ENST00000444578.1:c.207C>A ENSP00000397824.1:p.Ser69Arg
ENST00000466325.1:n.479C>A
ENST00000490936.5:n.2253C>A
ENST00000610817.4:c.5844+506C>A ENSP00000480593.1:n.5844+506C>A
NM_001110556.1:c.6264C>A NP_001104026.1:p.Ser2088Arg
NM_001456.3:c.6240C>A NP_001447.2:p.Ser2080Arg
XM_011531127.1:c.6168C>A XP_011529429.1:p.Ser2056Arg
XM_011531128.1:c.6144C>A XP_011529430.1:p.Ser2048Arg
XM_011531129.1:c.6090C>A XP_011529431.1:p.Ser2030Arg
XM_011531130.1:c.6066C>A XP_011529432.1:p.Ser2022Arg
XM_011531131.1:c.6063C>A XP_011529433.1:p.Ser2021Arg
NM_001110556.2:c.6264C>A MANE Select NP_001104026.1:p.Ser2088Arg
NM_001456.4:c.6240C>A NP_001447.2:p.Ser2080Arg