Canonical Allele Identifier: CA415193329
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352807A>C , CM000685.2:g.154352807A>C GRCh38
NC_000023.10:g.153581175A>C , CM000685.1:g.153581175A>C GRCh37
NC_000023.9:g.153234369A>C NCBI36
NG_011506.1:g.26832T>G
NG_011506.2:g.26832T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6320T>G ENSP00000353467.4:p.Ile2107Ser
ENST00000369850.10:c.6344T>G MANE Select ENSP00000358866.3:p.Ile2115Ser
ENST00000369856.8:c.6263T>G ENSP00000358872.4:p.Ile2088Ser
ENST00000422373.6:c.3161-132T>G ENSP00000416926.2:n.3161-132T>G
ENST00000610817.5:c.6401T>G ENSP00000480593.2:n.6401T>G
ENST00000673639.2:c.280-4117T>G
ENST00000676696.1:c.6623T>G ENSP00000503392.1:n.6623T>G
ENST00000678304.1:n.1523T>G
ENST00000344736.8:c.6224T>G ENSP00000358863.3:p.Ile2075Ser
ENST00000360319.8:c.6320T>G ENSP00000353467.4:p.Ile2107Ser
ENST00000369850.7:c.6344T>G ENSP00000358866.3:p.Ile2115Ser
ENST00000369856.7:c.6263T>G ENSP00000358872.4:p.Ile2088Ser
ENST00000415241.1:c.546T>G
ENST00000420627.5:c.6300T>G ENSP00000408921.1:n.6300T>G
ENST00000422373.5:c.6320T>G ENSP00000416926.1:p.Ile2107Ser
ENST00000444578.1:c.287T>G ENSP00000397824.1:p.Ile96Ser
ENST00000466325.1:n.559T>G
ENST00000490936.5:n.2333T>G
ENST00000498411.1:n.67+10T>G
ENST00000610817.4:c.5844+586T>G ENSP00000480593.1:n.5844+586T>G
NM_001110556.1:c.6344T>G NP_001104026.1:p.Ile2115Ser
NM_001456.3:c.6320T>G NP_001447.2:p.Ile2107Ser
XM_011531127.1:c.6248T>G XP_011529429.1:p.Ile2083Ser
XM_011531128.1:c.6224T>G XP_011529430.1:p.Ile2075Ser
XM_011531129.1:c.6170T>G XP_011529431.1:p.Ile2057Ser
XM_011531130.1:c.6146T>G XP_011529432.1:p.Ile2049Ser
XM_011531131.1:c.6143T>G XP_011529433.1:p.Ile2048Ser
NM_001110556.2:c.6344T>G MANE Select NP_001104026.1:p.Ile2115Ser
NM_001456.4:c.6320T>G NP_001447.2:p.Ile2107Ser