Canonical Allele Identifier: CA415193467
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352817C>G , CM000685.2:g.154352817C>G GRCh38
NC_000023.10:g.153581185C>G , CM000685.1:g.153581185C>G GRCh37
NC_000023.9:g.153234379C>G NCBI36
NG_011506.1:g.26822G>C
NG_011506.2:g.26822G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6310G>C ENSP00000353467.4:p.Gly2104Arg
ENST00000369850.10:c.6334G>C MANE Select ENSP00000358866.3:p.Gly2112Arg
ENST00000369856.8:c.6253G>C ENSP00000358872.4:p.Gly2085Arg
ENST00000422373.6:c.3161-142G>C ENSP00000416926.2:n.3161-142G>C
ENST00000610817.5:c.6391G>C ENSP00000480593.2:n.6391G>C
ENST00000673639.2:c.280-4127G>C
ENST00000676696.1:c.6613G>C ENSP00000503392.1:n.6613G>C
ENST00000678304.1:n.1513G>C
ENST00000344736.8:c.6214G>C ENSP00000358863.3:p.Gly2072Arg
ENST00000360319.8:c.6310G>C ENSP00000353467.4:p.Gly2104Arg
ENST00000369850.7:c.6334G>C ENSP00000358866.3:p.Gly2112Arg
ENST00000369856.7:c.6253G>C ENSP00000358872.4:p.Gly2085Arg
ENST00000415241.1:c.536G>C
ENST00000420627.5:c.6290G>C ENSP00000408921.1:n.6290G>C
ENST00000422373.5:c.6310G>C ENSP00000416926.1:p.Gly2104Arg
ENST00000444578.1:c.277G>C ENSP00000397824.1:p.Gly93Arg
ENST00000466325.1:n.549G>C
ENST00000490936.5:n.2323G>C
ENST00000498411.1:n.67G>C
ENST00000610817.4:c.5844+576G>C ENSP00000480593.1:n.5844+576G>C
NM_001110556.1:c.6334G>C NP_001104026.1:p.Gly2112Arg
NM_001456.3:c.6310G>C NP_001447.2:p.Gly2104Arg
XM_011531127.1:c.6238G>C XP_011529429.1:p.Gly2080Arg
XM_011531128.1:c.6214G>C XP_011529430.1:p.Gly2072Arg
XM_011531129.1:c.6160G>C XP_011529431.1:p.Gly2054Arg
XM_011531130.1:c.6136G>C XP_011529432.1:p.Gly2046Arg
XM_011531131.1:c.6133G>C XP_011529433.1:p.Gly2045Arg
NM_001110556.2:c.6334G>C MANE Select NP_001104026.1:p.Gly2112Arg
NM_001456.4:c.6310G>C NP_001447.2:p.Gly2104Arg