Canonical Allele Identifier: CA415193932
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352856C>G , CM000685.2:g.154352856C>G GRCh38
NC_000023.10:g.153581224C>G , CM000685.1:g.153581224C>G GRCh37
NC_000023.9:g.153234418C>G NCBI36
NG_011506.1:g.26783G>C
NG_011506.2:g.26783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6271G>C ENSP00000353467.4:p.Asp2091His
ENST00000369850.10:c.6295G>C MANE Select ENSP00000358866.3:p.Asp2099His
ENST00000369856.8:c.6214G>C ENSP00000358872.4:p.Asp2072His
ENST00000422373.6:c.3161-181G>C ENSP00000416926.2:n.3161-181G>C
ENST00000610817.5:c.6352G>C ENSP00000480593.2:n.6352G>C
ENST00000673639.2:c.280-4166G>C
ENST00000676696.1:c.6574G>C ENSP00000503392.1:n.6574G>C
ENST00000678304.1:n.1474G>C
ENST00000344736.8:c.6175G>C ENSP00000358863.3:p.Asp2059His
ENST00000360319.8:c.6271G>C ENSP00000353467.4:p.Asp2091His
ENST00000369850.7:c.6295G>C ENSP00000358866.3:p.Asp2099His
ENST00000369856.7:c.6214G>C ENSP00000358872.4:p.Asp2072His
ENST00000415241.1:c.497G>C
ENST00000420627.5:c.6251G>C ENSP00000408921.1:n.6251G>C
ENST00000422373.5:c.6271G>C ENSP00000416926.1:p.Asp2091His
ENST00000444578.1:c.238G>C ENSP00000397824.1:p.Asp80His
ENST00000466325.1:n.510G>C
ENST00000490936.5:n.2284G>C
ENST00000498411.1:n.28G>C
ENST00000610817.4:c.5844+537G>C ENSP00000480593.1:n.5844+537G>C
NM_001110556.1:c.6295G>C NP_001104026.1:p.Asp2099His
NM_001456.3:c.6271G>C NP_001447.2:p.Asp2091His
XM_011531127.1:c.6199G>C XP_011529429.1:p.Asp2067His
XM_011531128.1:c.6175G>C XP_011529430.1:p.Asp2059His
XM_011531129.1:c.6121G>C XP_011529431.1:p.Asp2041His
XM_011531130.1:c.6097G>C XP_011529432.1:p.Asp2033His
XM_011531131.1:c.6094G>C XP_011529433.1:p.Asp2032His
NM_001110556.2:c.6295G>C MANE Select NP_001104026.1:p.Asp2099His
NM_001456.4:c.6271G>C NP_001447.2:p.Asp2091His