Canonical Allele Identifier: CA415195434
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353045T>C , CM000685.2:g.154353045T>C GRCh38
NC_000023.10:g.153581413T>C , CM000685.1:g.153581413T>C GRCh37
NC_000023.9:g.153234607T>C NCBI36
NG_011506.1:g.26594A>G
NG_011506.2:g.26594A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6158A>G ENSP00000353467.4:p.His2053Arg
ENST00000369850.10:c.6182A>G MANE Select ENSP00000358866.3:p.His2061Arg
ENST00000369856.8:c.6101A>G ENSP00000358872.4:p.His2034Arg
ENST00000422373.6:c.3161-370A>G ENSP00000416926.2:n.3161-370A>G
ENST00000610817.5:c.6239A>G ENSP00000480593.2:n.6239A>G
ENST00000673639.2:c.280-4355A>G
ENST00000676696.1:c.6461A>G ENSP00000503392.1:n.6461A>G
ENST00000678304.1:n.1361A>G
ENST00000344736.8:c.6062A>G ENSP00000358863.3:p.His2021Arg
ENST00000360319.8:c.6158A>G ENSP00000353467.4:p.His2053Arg
ENST00000369850.7:c.6182A>G ENSP00000358866.3:p.His2061Arg
ENST00000369856.7:c.6101A>G ENSP00000358872.4:p.His2034Arg
ENST00000415241.1:c.384A>G
ENST00000420627.5:c.6138A>G ENSP00000408921.1:n.6138A>G
ENST00000422373.5:c.6158A>G ENSP00000416926.1:p.His2053Arg
ENST00000444578.1:c.125A>G ENSP00000397824.1:p.His42Arg
ENST00000466325.1:n.321A>G
ENST00000490936.5:n.2171A>G
ENST00000610817.4:c.5844+348A>G ENSP00000480593.1:n.5844+348A>G
NM_001110556.1:c.6182A>G NP_001104026.1:p.His2061Arg
NM_001456.3:c.6158A>G NP_001447.2:p.His2053Arg
XM_011531127.1:c.6086A>G XP_011529429.1:p.His2029Arg
XM_011531128.1:c.6062A>G XP_011529430.1:p.His2021Arg
XM_011531129.1:c.6008A>G XP_011529431.1:p.His2003Arg
XM_011531130.1:c.5984A>G XP_011529432.1:p.His1995Arg
XM_011531131.1:c.5981A>G XP_011529433.1:p.His1994Arg
NM_001110556.2:c.6182A>G MANE Select NP_001104026.1:p.His2061Arg
NM_001456.4:c.6158A>G NP_001447.2:p.His2053Arg