Canonical Allele Identifier: CA415195901
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353100C>A , CM000685.2:g.154353100C>A GRCh38
NC_000023.10:g.153581468C>A , CM000685.1:g.153581468C>A GRCh37
NC_000023.9:g.153234662C>A NCBI36
NG_011506.1:g.26539G>T
NG_011506.2:g.26539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6103G>T ENSP00000353467.4:p.Glu2035Ter
ENST00000369850.10:c.6127G>T MANE Select ENSP00000358866.3:p.Glu2043Ter
ENST00000369856.8:c.6046G>T ENSP00000358872.4:p.Glu2016Ter
ENST00000422373.6:c.3161-425G>T ENSP00000416926.2:n.3161-425G>T
ENST00000610817.5:c.6184G>T ENSP00000480593.2:n.6184G>T
ENST00000673639.2:c.280-4410G>T
ENST00000676696.1:c.6406G>T ENSP00000503392.1:n.6406G>T
ENST00000678304.1:n.1306G>T
ENST00000344736.8:c.6007G>T ENSP00000358863.3:p.Glu2003Ter
ENST00000360319.8:c.6103G>T ENSP00000353467.4:p.Glu2035Ter
ENST00000369850.7:c.6127G>T ENSP00000358866.3:p.Glu2043Ter
ENST00000369856.7:c.6046G>T ENSP00000358872.4:p.Glu2016Ter
ENST00000415241.1:c.329G>T
ENST00000420627.5:c.6083G>T ENSP00000408921.1:n.6083G>T
ENST00000422373.5:c.6103G>T ENSP00000416926.1:p.Glu2035Ter
ENST00000444578.1:c.70G>T ENSP00000397824.1:p.Glu24Ter
ENST00000466325.1:n.266G>T
ENST00000490936.5:n.2116G>T
ENST00000610817.4:c.5844+293G>T ENSP00000480593.1:n.5844+293G>T
NM_001110556.1:c.6127G>T NP_001104026.1:p.Glu2043Ter
NM_001456.3:c.6103G>T NP_001447.2:p.Glu2035Ter
XM_011531127.1:c.6031G>T XP_011529429.1:p.Glu2011Ter
XM_011531128.1:c.6007G>T XP_011529430.1:p.Glu2003Ter
XM_011531129.1:c.5953G>T XP_011529431.1:p.Glu1985Ter
XM_011531130.1:c.5929G>T XP_011529432.1:p.Glu1977Ter
XM_011531131.1:c.5926G>T XP_011529433.1:p.Glu1976Ter
NM_001110556.2:c.6127G>T MANE Select NP_001104026.1:p.Glu2043Ter
NM_001456.4:c.6103G>T NP_001447.2:p.Glu2035Ter