Canonical Allele Identifier: CA415193944
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352857C>G , CM000685.2:g.154352857C>G GRCh38
NC_000023.10:g.153581225C>G , CM000685.1:g.153581225C>G GRCh37
NC_000023.9:g.153234419C>G NCBI36
NG_011506.1:g.26782G>C
NG_011506.2:g.26782G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6270G>C ENSP00000353467.4:p.Glu2090Asp
ENST00000369850.10:c.6294G>C MANE Select ENSP00000358866.3:p.Glu2098Asp
ENST00000369856.8:c.6213G>C ENSP00000358872.4:p.Glu2071Asp
ENST00000422373.6:c.3161-182G>C ENSP00000416926.2:n.3161-182G>C
ENST00000610817.5:c.6351G>C ENSP00000480593.2:n.6351G>C
ENST00000673639.2:c.280-4167G>C
ENST00000676696.1:c.6573G>C ENSP00000503392.1:n.6573G>C
ENST00000678304.1:n.1473G>C
ENST00000344736.8:c.6174G>C ENSP00000358863.3:p.Glu2058Asp
ENST00000360319.8:c.6270G>C ENSP00000353467.4:p.Glu2090Asp
ENST00000369850.7:c.6294G>C ENSP00000358866.3:p.Glu2098Asp
ENST00000369856.7:c.6213G>C ENSP00000358872.4:p.Glu2071Asp
ENST00000415241.1:c.496G>C
ENST00000420627.5:c.6250G>C ENSP00000408921.1:n.6250G>C
ENST00000422373.5:c.6270G>C ENSP00000416926.1:p.Glu2090Asp
ENST00000444578.1:c.237G>C ENSP00000397824.1:p.Glu79Asp
ENST00000466325.1:n.509G>C
ENST00000490936.5:n.2283G>C
ENST00000498411.1:n.27G>C
ENST00000610817.4:c.5844+536G>C ENSP00000480593.1:n.5844+536G>C
NM_001110556.1:c.6294G>C NP_001104026.1:p.Glu2098Asp
NM_001456.3:c.6270G>C NP_001447.2:p.Glu2090Asp
XM_011531127.1:c.6198G>C XP_011529429.1:p.Glu2066Asp
XM_011531128.1:c.6174G>C XP_011529430.1:p.Glu2058Asp
XM_011531129.1:c.6120G>C XP_011529431.1:p.Glu2040Asp
XM_011531130.1:c.6096G>C XP_011529432.1:p.Glu2032Asp
XM_011531131.1:c.6093G>C XP_011529433.1:p.Glu2031Asp
NM_001110556.2:c.6294G>C MANE Select NP_001104026.1:p.Glu2098Asp
NM_001456.4:c.6270G>C NP_001447.2:p.Glu2090Asp