Canonical Allele Identifier: CA415194197
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352874T>G , CM000685.2:g.154352874T>G GRCh38
NC_000023.10:g.153581242T>G , CM000685.1:g.153581242T>G GRCh37
NC_000023.9:g.153234436T>G NCBI36
NG_011506.1:g.26765A>C
NG_011506.2:g.26765A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6253A>C ENSP00000353467.4:p.Asn2085His
ENST00000369850.10:c.6277A>C MANE Select ENSP00000358866.3:p.Asn2093His
ENST00000369856.8:c.6196A>C ENSP00000358872.4:p.Asn2066His
ENST00000422373.6:c.3161-199A>C ENSP00000416926.2:n.3161-199A>C
ENST00000610817.5:c.6334A>C ENSP00000480593.2:n.6334A>C
ENST00000673639.2:c.280-4184A>C
ENST00000676696.1:c.6556A>C ENSP00000503392.1:n.6556A>C
ENST00000678304.1:n.1456A>C
ENST00000344736.8:c.6157A>C ENSP00000358863.3:p.Asn2053His
ENST00000360319.8:c.6253A>C ENSP00000353467.4:p.Asn2085His
ENST00000369850.7:c.6277A>C ENSP00000358866.3:p.Asn2093His
ENST00000369856.7:c.6196A>C ENSP00000358872.4:p.Asn2066His
ENST00000415241.1:c.479A>C
ENST00000420627.5:c.6233A>C ENSP00000408921.1:n.6233A>C
ENST00000422373.5:c.6253A>C ENSP00000416926.1:p.Asn2085His
ENST00000444578.1:c.220A>C ENSP00000397824.1:p.Asn74His
ENST00000466325.1:n.492A>C
ENST00000490936.5:n.2266A>C
ENST00000498411.1:n.10A>C
ENST00000610817.4:c.5844+519A>C ENSP00000480593.1:n.5844+519A>C
NM_001110556.1:c.6277A>C NP_001104026.1:p.Asn2093His
NM_001456.3:c.6253A>C NP_001447.2:p.Asn2085His
XM_011531127.1:c.6181A>C XP_011529429.1:p.Asn2061His
XM_011531128.1:c.6157A>C XP_011529430.1:p.Asn2053His
XM_011531129.1:c.6103A>C XP_011529431.1:p.Asn2035His
XM_011531130.1:c.6079A>C XP_011529432.1:p.Asn2027His
XM_011531131.1:c.6076A>C XP_011529433.1:p.Asn2026His
NM_001110556.2:c.6277A>C MANE Select NP_001104026.1:p.Asn2093His
NM_001456.4:c.6253A>C NP_001447.2:p.Asn2085His