Canonical Allele Identifier: CA415193530
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352825G>C , CM000685.2:g.154352825G>C GRCh38
NC_000023.10:g.153581193G>C , CM000685.1:g.153581193G>C GRCh37
NC_000023.9:g.153234387G>C NCBI36
NG_011506.1:g.26814C>G
NG_011506.2:g.26814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6302C>G ENSP00000353467.4:p.Thr2101Arg
ENST00000369850.10:c.6326C>G MANE Select ENSP00000358866.3:p.Thr2109Arg
ENST00000369856.8:c.6245C>G ENSP00000358872.4:p.Thr2082Arg
ENST00000422373.6:c.3161-150C>G ENSP00000416926.2:n.3161-150C>G
ENST00000610817.5:c.6383C>G ENSP00000480593.2:n.6383C>G
ENST00000673639.2:c.280-4135C>G
ENST00000676696.1:c.6605C>G ENSP00000503392.1:n.6605C>G
ENST00000678304.1:n.1505C>G
ENST00000344736.8:c.6206C>G ENSP00000358863.3:p.Thr2069Arg
ENST00000360319.8:c.6302C>G ENSP00000353467.4:p.Thr2101Arg
ENST00000369850.7:c.6326C>G ENSP00000358866.3:p.Thr2109Arg
ENST00000369856.7:c.6245C>G ENSP00000358872.4:p.Thr2082Arg
ENST00000415241.1:c.528C>G
ENST00000420627.5:c.6282C>G ENSP00000408921.1:n.6282C>G
ENST00000422373.5:c.6302C>G ENSP00000416926.1:p.Thr2101Arg
ENST00000444578.1:c.269C>G ENSP00000397824.1:p.Thr90Arg
ENST00000466325.1:n.541C>G
ENST00000490936.5:n.2315C>G
ENST00000498411.1:n.59C>G
ENST00000610817.4:c.5844+568C>G ENSP00000480593.1:n.5844+568C>G
NM_001110556.1:c.6326C>G NP_001104026.1:p.Thr2109Arg
NM_001456.3:c.6302C>G NP_001447.2:p.Thr2101Arg
XM_011531127.1:c.6230C>G XP_011529429.1:p.Thr2077Arg
XM_011531128.1:c.6206C>G XP_011529430.1:p.Thr2069Arg
XM_011531129.1:c.6152C>G XP_011529431.1:p.Thr2051Arg
XM_011531130.1:c.6128C>G XP_011529432.1:p.Thr2043Arg
XM_011531131.1:c.6125C>G XP_011529433.1:p.Thr2042Arg
NM_001110556.2:c.6326C>G MANE Select NP_001104026.1:p.Thr2109Arg
NM_001456.4:c.6302C>G NP_001447.2:p.Thr2101Arg