Canonical Allele Identifier: CA415196278
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353145G>C , CM000685.2:g.154353145G>C GRCh38
NC_000023.10:g.153581513G>C , CM000685.1:g.153581513G>C GRCh37
NC_000023.9:g.153234707G>C NCBI36
NG_011506.1:g.26494C>G
NG_011506.2:g.26494C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6058C>G ENSP00000353467.4:p.Gln2020Glu
ENST00000369850.10:c.6082C>G MANE Select ENSP00000358866.3:p.Gln2028Glu
ENST00000369856.8:c.6001C>G ENSP00000358872.4:p.Gln2001Glu
ENST00000422373.6:c.3161-470C>G ENSP00000416926.2:n.3161-470C>G
ENST00000610817.5:c.6139C>G ENSP00000480593.2:n.6139C>G
ENST00000673639.2:c.280-4455C>G
ENST00000676696.1:c.6361C>G ENSP00000503392.1:n.6361C>G
ENST00000678304.1:n.1261C>G
ENST00000344736.8:c.5962C>G ENSP00000358863.3:p.Gln1988Glu
ENST00000360319.8:c.6058C>G ENSP00000353467.4:p.Gln2020Glu
ENST00000369850.7:c.6082C>G ENSP00000358866.3:p.Gln2028Glu
ENST00000369856.7:c.6001C>G ENSP00000358872.4:p.Gln2001Glu
ENST00000415241.1:c.284C>G
ENST00000420627.5:c.6038C>G ENSP00000408921.1:n.6038C>G
ENST00000422373.5:c.6058C>G ENSP00000416926.1:p.Gln2020Glu
ENST00000444578.1:c.25C>G ENSP00000397824.1:p.Gln9Glu
ENST00000466325.1:n.221C>G
ENST00000490936.5:n.2071C>G
ENST00000610817.4:c.5844+248C>G ENSP00000480593.1:n.5844+248C>G
NM_001110556.1:c.6082C>G NP_001104026.1:p.Gln2028Glu
NM_001456.3:c.6058C>G NP_001447.2:p.Gln2020Glu
XM_011531127.1:c.5986C>G XP_011529429.1:p.Gln1996Glu
XM_011531128.1:c.5962C>G XP_011529430.1:p.Gln1988Glu
XM_011531129.1:c.5908C>G XP_011529431.1:p.Gln1970Glu
XM_011531130.1:c.5884C>G XP_011529432.1:p.Gln1962Glu
XM_011531131.1:c.5881C>G XP_011529433.1:p.Gln1961Glu
NM_001110556.2:c.6082C>G MANE Select NP_001104026.1:p.Gln2028Glu
NM_001456.4:c.6058C>G NP_001447.2:p.Gln2020Glu