Canonical Allele Identifier: CA415197146
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353322A>T , CM000685.2:g.154353322A>T GRCh38
NC_000023.10:g.153581690A>T , CM000685.1:g.153581690A>T GRCh37
NC_000023.9:g.153234884A>T NCBI36
NG_011506.1:g.26317T>A
NG_011506.2:g.26317T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5972T>A ENSP00000353467.4:p.Leu1991Gln
ENST00000369850.10:c.5996T>A MANE Select ENSP00000358866.3:p.Leu1999Gln
ENST00000369856.8:c.5915T>A ENSP00000358872.4:p.Leu1972Gln
ENST00000422373.6:c.3161-647T>A ENSP00000416926.2:n.3161-647T>A
ENST00000610817.5:c.6053T>A ENSP00000480593.2:n.6053T>A
ENST00000673639.2:c.280-4632T>A
ENST00000676696.1:c.6275T>A ENSP00000503392.1:n.6275T>A
ENST00000678304.1:n.1175T>A
ENST00000344736.8:c.5876T>A ENSP00000358863.3:p.Leu1959Gln
ENST00000360319.8:c.5972T>A ENSP00000353467.4:p.Leu1991Gln
ENST00000369850.7:c.5996T>A ENSP00000358866.3:p.Leu1999Gln
ENST00000369856.7:c.5915T>A ENSP00000358872.4:p.Leu1972Gln
ENST00000415241.1:c.181T>A
ENST00000420627.5:c.5952T>A ENSP00000408921.1:n.5952T>A
ENST00000422373.5:c.5972T>A ENSP00000416926.1:p.Leu1991Gln
ENST00000438732.2:c.670T>A
ENST00000466325.1:n.135T>A
ENST00000490936.5:n.1985T>A
ENST00000610817.4:c.5844+71T>A ENSP00000480593.1:n.5844+71T>A
NM_001110556.1:c.5996T>A NP_001104026.1:p.Leu1999Gln
NM_001456.3:c.5972T>A NP_001447.2:p.Leu1991Gln
XM_011531127.1:c.5900T>A XP_011529429.1:p.Leu1967Gln
XM_011531128.1:c.5876T>A XP_011529430.1:p.Leu1959Gln
XM_011531129.1:c.5822T>A XP_011529431.1:p.Leu1941Gln
XM_011531130.1:c.5798T>A XP_011529432.1:p.Leu1933Gln
XM_011531131.1:c.5795T>A XP_011529433.1:p.Leu1932Gln
NM_001110556.2:c.5996T>A MANE Select NP_001104026.1:p.Leu1999Gln
NM_001456.4:c.5972T>A NP_001447.2:p.Leu1991Gln