Canonical Allele Identifier: CA415194062
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352865C>G , CM000685.2:g.154352865C>G GRCh38
NC_000023.10:g.153581233C>G , CM000685.1:g.153581233C>G GRCh37
NC_000023.9:g.153234427C>G NCBI36
NG_011506.1:g.26774G>C
NG_011506.2:g.26774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6262G>C ENSP00000353467.4:p.Asp2088His
ENST00000369850.10:c.6286G>C MANE Select ENSP00000358866.3:p.Asp2096His
ENST00000369856.8:c.6205G>C ENSP00000358872.4:p.Asp2069His
ENST00000422373.6:c.3161-190G>C ENSP00000416926.2:n.3161-190G>C
ENST00000610817.5:c.6343G>C ENSP00000480593.2:n.6343G>C
ENST00000673639.2:c.280-4175G>C
ENST00000676696.1:c.6565G>C ENSP00000503392.1:n.6565G>C
ENST00000678304.1:n.1465G>C
ENST00000344736.8:c.6166G>C ENSP00000358863.3:p.Asp2056His
ENST00000360319.8:c.6262G>C ENSP00000353467.4:p.Asp2088His
ENST00000369850.7:c.6286G>C ENSP00000358866.3:p.Asp2096His
ENST00000369856.7:c.6205G>C ENSP00000358872.4:p.Asp2069His
ENST00000415241.1:c.488G>C
ENST00000420627.5:c.6242G>C ENSP00000408921.1:n.6242G>C
ENST00000422373.5:c.6262G>C ENSP00000416926.1:p.Asp2088His
ENST00000444578.1:c.229G>C ENSP00000397824.1:p.Asp77His
ENST00000466325.1:n.501G>C
ENST00000490936.5:n.2275G>C
ENST00000498411.1:n.19G>C
ENST00000610817.4:c.5844+528G>C ENSP00000480593.1:n.5844+528G>C
NM_001110556.1:c.6286G>C NP_001104026.1:p.Asp2096His
NM_001456.3:c.6262G>C NP_001447.2:p.Asp2088His
XM_011531127.1:c.6190G>C XP_011529429.1:p.Asp2064His
XM_011531128.1:c.6166G>C XP_011529430.1:p.Asp2056His
XM_011531129.1:c.6112G>C XP_011529431.1:p.Asp2038His
XM_011531130.1:c.6088G>C XP_011529432.1:p.Asp2030His
XM_011531131.1:c.6085G>C XP_011529433.1:p.Asp2029His
NM_001110556.2:c.6286G>C MANE Select NP_001104026.1:p.Asp2096His
NM_001456.4:c.6262G>C NP_001447.2:p.Asp2088His