Canonical Allele Identifier: CA415196676
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353194G>T , CM000685.2:g.154353194G>T GRCh38
NC_000023.10:g.153581562G>T , CM000685.1:g.153581562G>T GRCh37
NC_000023.9:g.153234756G>T NCBI36
NG_011506.1:g.26445C>A
NG_011506.2:g.26445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6009C>A ENSP00000353467.4:p.Phe2003Leu
ENST00000369850.10:c.6033C>A MANE Select ENSP00000358866.3:p.Phe2011Leu
ENST00000369856.8:c.5952C>A ENSP00000358872.4:p.Phe1984Leu
ENST00000422373.6:c.3161-519C>A ENSP00000416926.2:n.3161-519C>A
ENST00000610817.5:c.6090C>A ENSP00000480593.2:n.6090C>A
ENST00000673639.2:c.280-4504C>A
ENST00000676696.1:c.6312C>A ENSP00000503392.1:n.6312C>A
ENST00000678304.1:n.1212C>A
ENST00000344736.8:c.5913C>A ENSP00000358863.3:p.Phe1971Leu
ENST00000360319.8:c.6009C>A ENSP00000353467.4:p.Phe2003Leu
ENST00000369850.7:c.6033C>A ENSP00000358866.3:p.Phe2011Leu
ENST00000369856.7:c.5952C>A ENSP00000358872.4:p.Phe1984Leu
ENST00000415241.1:c.235C>A
ENST00000420627.5:c.5989C>A ENSP00000408921.1:n.5989C>A
ENST00000422373.5:c.6009C>A ENSP00000416926.1:p.Phe2003Leu
ENST00000466325.1:n.172C>A
ENST00000490936.5:n.2022C>A
ENST00000610817.4:c.5844+199C>A ENSP00000480593.1:n.5844+199C>A
NM_001110556.1:c.6033C>A NP_001104026.1:p.Phe2011Leu
NM_001456.3:c.6009C>A NP_001447.2:p.Phe2003Leu
XM_011531127.1:c.5937C>A XP_011529429.1:p.Phe1979Leu
XM_011531128.1:c.5913C>A XP_011529430.1:p.Phe1971Leu
XM_011531129.1:c.5859C>A XP_011529431.1:p.Phe1953Leu
XM_011531130.1:c.5835C>A XP_011529432.1:p.Phe1945Leu
XM_011531131.1:c.5832C>A XP_011529433.1:p.Phe1944Leu
NM_001110556.2:c.6033C>A MANE Select NP_001104026.1:p.Phe2011Leu
NM_001456.4:c.6009C>A NP_001447.2:p.Phe2003Leu