Canonical Allele Identifier: CA519706546
Community Standard Title: NM_001110556.2(FLNA):c.6411G>A (p.Glu2137=)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352644C>T , CM000685.2:g.154352644C>T GRCh38
NC_000023.10:g.153581012C>T , CM000685.1:g.153581012C>T GRCh37
NC_000023.9:g.153234206C>T NCBI36
NG_011506.1:g.26995G>A
NG_011506.2:g.26995G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.6411G>A MANE Select NP_001104026.1:p.Glu2137=
ENST00000369850.10:c.6411G>A MANE Select ENSP00000358866.3:p.Glu2137=
NM_001110556.1:c.6411G>A NP_001104026.1:p.Glu2137=
NM_001456.3:c.6387G>A NP_001447.2:p.Glu2129=
NM_001456.4:c.6387G>A NP_001447.2:p.Glu2129=
ENST00000344736.8:c.6291G>A ENSP00000358863.3:p.Glu2097=
ENST00000360319.8:c.6387G>A ENSP00000353467.4:p.Glu2129=
ENST00000360319.9:c.6387G>A ENSP00000353467.4:p.Glu2129=
ENST00000369850.7:c.6411G>A ENSP00000358866.3:p.Glu2137=
ENST00000369856.7:c.6330G>A ENSP00000358872.4:p.Glu2110=
ENST00000369856.8:c.6330G>A ENSP00000358872.4:p.Glu2110=
ENST00000415241.1:c.613G>A
ENST00000420627.5:c.6367G>A ENSP00000408921.1:n.6367G>A
ENST00000422373.5:c.6387G>A ENSP00000416926.1:p.Glu2129=
ENST00000422373.6:c.3192G>A ENSP00000416926.2:p.Glu1064=
ENST00000444578.1:c.322+128G>A ENSP00000397824.1:n.322+128G>A
ENST00000466325.1:n.722G>A
ENST00000474358.5:n.44G>A
ENST00000490936.5:n.2400G>A
ENST00000498411.1:n.67+173G>A
ENST00000610817.4:c.5845-694G>A ENSP00000480593.1:n.5845-694G>A
ENST00000610817.5:c.6468G>A ENSP00000480593.2:n.6468G>A
ENST00000673639.2:c.280-3954G>A
ENST00000676696.1:c.6690G>A ENSP00000503392.1:n.6690G>A
ENST00000678304.1:n.1590G>A
XM_011531127.1:c.6315G>A XP_011529429.1:p.Glu2105=
XM_011531128.1:c.6291G>A XP_011529430.1:p.Glu2097=
XM_011531129.1:c.6237G>A XP_011529431.1:p.Glu2079=
XM_011531130.1:c.6213G>A XP_011529432.1:p.Glu2071=
XM_011531131.1:c.6210G>A XP_011529433.1:p.Glu2070=