Canonical Allele Identifier: CA415195875
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353097T>A , CM000685.2:g.154353097T>A GRCh38
NC_000023.10:g.153581465T>A , CM000685.1:g.153581465T>A GRCh37
NC_000023.9:g.153234659T>A NCBI36
NG_011506.1:g.26542A>T
NG_011506.2:g.26542A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6106A>T ENSP00000353467.4:p.Ile2036Phe
ENST00000369850.10:c.6130A>T MANE Select ENSP00000358866.3:p.Ile2044Phe
ENST00000369856.8:c.6049A>T ENSP00000358872.4:p.Ile2017Phe
ENST00000422373.6:c.3161-422A>T ENSP00000416926.2:n.3161-422A>T
ENST00000610817.5:c.6187A>T ENSP00000480593.2:n.6187A>T
ENST00000673639.2:c.280-4407A>T
ENST00000676696.1:c.6409A>T ENSP00000503392.1:n.6409A>T
ENST00000678304.1:n.1309A>T
ENST00000344736.8:c.6010A>T ENSP00000358863.3:p.Ile2004Phe
ENST00000360319.8:c.6106A>T ENSP00000353467.4:p.Ile2036Phe
ENST00000369850.7:c.6130A>T ENSP00000358866.3:p.Ile2044Phe
ENST00000369856.7:c.6049A>T ENSP00000358872.4:p.Ile2017Phe
ENST00000415241.1:c.332A>T
ENST00000420627.5:c.6086A>T ENSP00000408921.1:n.6086A>T
ENST00000422373.5:c.6106A>T ENSP00000416926.1:p.Ile2036Phe
ENST00000444578.1:c.73A>T ENSP00000397824.1:p.Ile25Phe
ENST00000466325.1:n.269A>T
ENST00000490936.5:n.2119A>T
ENST00000610817.4:c.5844+296A>T ENSP00000480593.1:n.5844+296A>T
NM_001110556.1:c.6130A>T NP_001104026.1:p.Ile2044Phe
NM_001456.3:c.6106A>T NP_001447.2:p.Ile2036Phe
XM_011531127.1:c.6034A>T XP_011529429.1:p.Ile2012Phe
XM_011531128.1:c.6010A>T XP_011529430.1:p.Ile2004Phe
XM_011531129.1:c.5956A>T XP_011529431.1:p.Ile1986Phe
XM_011531130.1:c.5932A>T XP_011529432.1:p.Ile1978Phe
XM_011531131.1:c.5929A>T XP_011529433.1:p.Ile1977Phe
NM_001110556.2:c.6130A>T MANE Select NP_001104026.1:p.Ile2044Phe
NM_001456.4:c.6106A>T NP_001447.2:p.Ile2036Phe