Canonical Allele Identifier: CA415194239
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352878G>T , CM000685.2:g.154352878G>T GRCh38
NC_000023.10:g.153581246G>T , CM000685.1:g.153581246G>T GRCh37
NC_000023.9:g.153234440G>T NCBI36
NG_011506.1:g.26761C>A
NG_011506.2:g.26761C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6249C>A ENSP00000353467.4:p.Asp2083Glu
ENST00000369850.10:c.6273C>A MANE Select ENSP00000358866.3:p.Asp2091Glu
ENST00000369856.8:c.6192C>A ENSP00000358872.4:p.Asp2064Glu
ENST00000422373.6:c.3161-203C>A ENSP00000416926.2:n.3161-203C>A
ENST00000610817.5:c.6330C>A ENSP00000480593.2:n.6330C>A
ENST00000673639.2:c.280-4188C>A
ENST00000676696.1:c.6552C>A ENSP00000503392.1:n.6552C>A
ENST00000678304.1:n.1452C>A
ENST00000344736.8:c.6153C>A ENSP00000358863.3:p.Asp2051Glu
ENST00000360319.8:c.6249C>A ENSP00000353467.4:p.Asp2083Glu
ENST00000369850.7:c.6273C>A ENSP00000358866.3:p.Asp2091Glu
ENST00000369856.7:c.6192C>A ENSP00000358872.4:p.Asp2064Glu
ENST00000415241.1:c.475C>A
ENST00000420627.5:c.6229C>A ENSP00000408921.1:n.6229C>A
ENST00000422373.5:c.6249C>A ENSP00000416926.1:p.Asp2083Glu
ENST00000444578.1:c.216C>A ENSP00000397824.1:p.Asp72Glu
ENST00000466325.1:n.488C>A
ENST00000490936.5:n.2262C>A
ENST00000498411.1:n.6C>A
ENST00000610817.4:c.5844+515C>A ENSP00000480593.1:n.5844+515C>A
NM_001110556.1:c.6273C>A NP_001104026.1:p.Asp2091Glu
NM_001456.3:c.6249C>A NP_001447.2:p.Asp2083Glu
XM_011531127.1:c.6177C>A XP_011529429.1:p.Asp2059Glu
XM_011531128.1:c.6153C>A XP_011529430.1:p.Asp2051Glu
XM_011531129.1:c.6099C>A XP_011529431.1:p.Asp2033Glu
XM_011531130.1:c.6075C>A XP_011529432.1:p.Asp2025Glu
XM_011531131.1:c.6072C>A XP_011529433.1:p.Asp2024Glu
NM_001110556.2:c.6273C>A MANE Select NP_001104026.1:p.Asp2091Glu
NM_001456.4:c.6249C>A NP_001447.2:p.Asp2083Glu