Canonical Allele Identifier: CA415196302
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353148C>A , CM000685.2:g.154353148C>A GRCh38
NC_000023.10:g.153581516C>A , CM000685.1:g.153581516C>A GRCh37
NC_000023.9:g.153234710C>A NCBI36
NG_011506.1:g.26491G>T
NG_011506.2:g.26491G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6055G>T ENSP00000353467.4:p.Gly2019Cys
ENST00000369850.10:c.6079G>T MANE Select ENSP00000358866.3:p.Gly2027Cys
ENST00000369856.8:c.5998G>T ENSP00000358872.4:p.Gly2000Cys
ENST00000422373.6:c.3161-473G>T ENSP00000416926.2:n.3161-473G>T
ENST00000610817.5:c.6136G>T ENSP00000480593.2:n.6136G>T
ENST00000673639.2:c.280-4458G>T
ENST00000676696.1:c.6358G>T ENSP00000503392.1:n.6358G>T
ENST00000678304.1:n.1258G>T
ENST00000344736.8:c.5959G>T ENSP00000358863.3:p.Gly1987Cys
ENST00000360319.8:c.6055G>T ENSP00000353467.4:p.Gly2019Cys
ENST00000369850.7:c.6079G>T ENSP00000358866.3:p.Gly2027Cys
ENST00000369856.7:c.5998G>T ENSP00000358872.4:p.Gly2000Cys
ENST00000415241.1:c.281G>T
ENST00000420627.5:c.6035G>T ENSP00000408921.1:n.6035G>T
ENST00000422373.5:c.6055G>T ENSP00000416926.1:p.Gly2019Cys
ENST00000444578.1:c.22G>T ENSP00000397824.1:p.Gly8Cys
ENST00000466325.1:n.218G>T
ENST00000490936.5:n.2068G>T
ENST00000610817.4:c.5844+245G>T ENSP00000480593.1:n.5844+245G>T
NM_001110556.1:c.6079G>T NP_001104026.1:p.Gly2027Cys
NM_001456.3:c.6055G>T NP_001447.2:p.Gly2019Cys
XM_011531127.1:c.5983G>T XP_011529429.1:p.Gly1995Cys
XM_011531128.1:c.5959G>T XP_011529430.1:p.Gly1987Cys
XM_011531129.1:c.5905G>T XP_011529431.1:p.Gly1969Cys
XM_011531130.1:c.5881G>T XP_011529432.1:p.Gly1961Cys
XM_011531131.1:c.5878G>T XP_011529433.1:p.Gly1960Cys
NM_001110556.2:c.6079G>T MANE Select NP_001104026.1:p.Gly2027Cys
NM_001456.4:c.6055G>T NP_001447.2:p.Gly2019Cys