Canonical Allele Identifier: CA519706126
Gene: FLNA HGNC NCBI

Linked Data

dbSNP Id: rs1557176070

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352902G>A , CM000685.2:g.154352902G>A GRCh38
NC_000023.10:g.153581270G>A , CM000685.1:g.153581270G>A GRCh37
NC_000023.9:g.153234464G>A NCBI36
NG_011506.1:g.26737C>T
NG_011506.2:g.26737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6225C>T ENSP00000353467.4:p.Ser2075=
ENST00000369850.10:c.6249C>T MANE Select ENSP00000358866.3:p.Ser2083=
ENST00000369856.8:c.6168C>T ENSP00000358872.4:p.Ser2056=
ENST00000422373.6:c.3161-227C>T ENSP00000416926.2:n.3161-227C>T
ENST00000610817.5:c.6306C>T ENSP00000480593.2:n.6306C>T
ENST00000673639.2:c.280-4212C>T
ENST00000676696.1:c.6528C>T ENSP00000503392.1:n.6528C>T
ENST00000678304.1:n.1428C>T
ENST00000344736.8:c.6129C>T ENSP00000358863.3:p.Ser2043=
ENST00000360319.8:c.6225C>T ENSP00000353467.4:p.Ser2075=
ENST00000369850.7:c.6249C>T ENSP00000358866.3:p.Ser2083=
ENST00000369856.7:c.6168C>T ENSP00000358872.4:p.Ser2056=
ENST00000415241.1:c.451C>T
ENST00000420627.5:c.6205C>T ENSP00000408921.1:n.6205C>T
ENST00000422373.5:c.6225C>T ENSP00000416926.1:p.Ser2075=
ENST00000444578.1:c.192C>T ENSP00000397824.1:p.Ser64=
ENST00000466325.1:n.464C>T
ENST00000490936.5:n.2238C>T
ENST00000610817.4:c.5844+491C>T ENSP00000480593.1:n.5844+491C>T
NM_001110556.1:c.6249C>T NP_001104026.1:p.Ser2083=
NM_001456.3:c.6225C>T NP_001447.2:p.Ser2075=
XM_011531127.1:c.6153C>T XP_011529429.1:p.Ser2051=
XM_011531128.1:c.6129C>T XP_011529430.1:p.Ser2043=
XM_011531129.1:c.6075C>T XP_011529431.1:p.Ser2025=
XM_011531130.1:c.6051C>T XP_011529432.1:p.Ser2017=
XM_011531131.1:c.6048C>T XP_011529433.1:p.Ser2016=
NM_001110556.2:c.6249C>T MANE Select NP_001104026.1:p.Ser2083=
NM_001456.4:c.6225C>T NP_001447.2:p.Ser2075=