Canonical Allele Identifier: CA415194985
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353006T>G , CM000685.2:g.154353006T>G GRCh38
NC_000023.10:g.153581374T>G , CM000685.1:g.153581374T>G GRCh37
NC_000023.9:g.153234568T>G NCBI36
NG_011506.1:g.26633A>C
NG_011506.2:g.26633A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6197A>C ENSP00000353467.4:p.Asp2066Ala
ENST00000369850.10:c.6221A>C MANE Select ENSP00000358866.3:p.Asp2074Ala
ENST00000369856.8:c.6140A>C ENSP00000358872.4:p.Asp2047Ala
ENST00000422373.6:c.3161-331A>C ENSP00000416926.2:n.3161-331A>C
ENST00000610817.5:c.6278A>C ENSP00000480593.2:n.6278A>C
ENST00000673639.2:c.280-4316A>C
ENST00000676696.1:c.6500A>C ENSP00000503392.1:n.6500A>C
ENST00000678304.1:n.1400A>C
ENST00000344736.8:c.6101A>C ENSP00000358863.3:p.Asp2034Ala
ENST00000360319.8:c.6197A>C ENSP00000353467.4:p.Asp2066Ala
ENST00000369850.7:c.6221A>C ENSP00000358866.3:p.Asp2074Ala
ENST00000369856.7:c.6140A>C ENSP00000358872.4:p.Asp2047Ala
ENST00000415241.1:c.423A>C
ENST00000420627.5:c.6177A>C ENSP00000408921.1:n.6177A>C
ENST00000422373.5:c.6197A>C ENSP00000416926.1:p.Asp2066Ala
ENST00000444578.1:c.164A>C ENSP00000397824.1:p.Asp55Ala
ENST00000466325.1:n.360A>C
ENST00000490936.5:n.2210A>C
ENST00000610817.4:c.5844+387A>C ENSP00000480593.1:n.5844+387A>C
NM_001110556.1:c.6221A>C NP_001104026.1:p.Asp2074Ala
NM_001456.3:c.6197A>C NP_001447.2:p.Asp2066Ala
XM_011531127.1:c.6125A>C XP_011529429.1:p.Asp2042Ala
XM_011531128.1:c.6101A>C XP_011529430.1:p.Asp2034Ala
XM_011531129.1:c.6047A>C XP_011529431.1:p.Asp2016Ala
XM_011531130.1:c.6023A>C XP_011529432.1:p.Asp2008Ala
XM_011531131.1:c.6020A>C XP_011529433.1:p.Asp2007Ala
NM_001110556.2:c.6221A>C MANE Select NP_001104026.1:p.Asp2074Ala
NM_001456.4:c.6197A>C NP_001447.2:p.Asp2066Ala