Canonical Allele Identifier: CA415194150
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352871T>C , CM000685.2:g.154352871T>C GRCh38
NC_000023.10:g.153581239T>C , CM000685.1:g.153581239T>C GRCh37
NC_000023.9:g.153234433T>C NCBI36
NG_011506.1:g.26768A>G
NG_011506.2:g.26768A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6256A>G ENSP00000353467.4:p.Thr2086Ala
ENST00000369850.10:c.6280A>G MANE Select ENSP00000358866.3:p.Thr2094Ala
ENST00000369856.8:c.6199A>G ENSP00000358872.4:p.Thr2067Ala
ENST00000422373.6:c.3161-196A>G ENSP00000416926.2:n.3161-196A>G
ENST00000610817.5:c.6337A>G ENSP00000480593.2:n.6337A>G
ENST00000673639.2:c.280-4181A>G
ENST00000676696.1:c.6559A>G ENSP00000503392.1:n.6559A>G
ENST00000678304.1:n.1459A>G
ENST00000344736.8:c.6160A>G ENSP00000358863.3:p.Thr2054Ala
ENST00000360319.8:c.6256A>G ENSP00000353467.4:p.Thr2086Ala
ENST00000369850.7:c.6280A>G ENSP00000358866.3:p.Thr2094Ala
ENST00000369856.7:c.6199A>G ENSP00000358872.4:p.Thr2067Ala
ENST00000415241.1:c.482A>G
ENST00000420627.5:c.6236A>G ENSP00000408921.1:n.6236A>G
ENST00000422373.5:c.6256A>G ENSP00000416926.1:p.Thr2086Ala
ENST00000444578.1:c.223A>G ENSP00000397824.1:p.Thr75Ala
ENST00000466325.1:n.495A>G
ENST00000490936.5:n.2269A>G
ENST00000498411.1:n.13A>G
ENST00000610817.4:c.5844+522A>G ENSP00000480593.1:n.5844+522A>G
NM_001110556.1:c.6280A>G NP_001104026.1:p.Thr2094Ala
NM_001456.3:c.6256A>G NP_001447.2:p.Thr2086Ala
XM_011531127.1:c.6184A>G XP_011529429.1:p.Thr2062Ala
XM_011531128.1:c.6160A>G XP_011529430.1:p.Thr2054Ala
XM_011531129.1:c.6106A>G XP_011529431.1:p.Thr2036Ala
XM_011531130.1:c.6082A>G XP_011529432.1:p.Thr2028Ala
XM_011531131.1:c.6079A>G XP_011529433.1:p.Thr2027Ala
NM_001110556.2:c.6280A>G MANE Select NP_001104026.1:p.Thr2094Ala
NM_001456.4:c.6256A>G NP_001447.2:p.Thr2086Ala