Canonical Allele Identifier: CA415196892
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353298A>G , CM000685.2:g.154353298A>G GRCh38
NC_000023.10:g.153581666A>G , CM000685.1:g.153581666A>G GRCh37
NC_000023.9:g.153234860A>G NCBI36
NG_011506.1:g.26341T>C
NG_011506.2:g.26341T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5996T>C ENSP00000353467.4:p.Val1999Ala
ENST00000369850.10:c.6020T>C MANE Select ENSP00000358866.3:p.Val2007Ala
ENST00000369856.8:c.5939T>C ENSP00000358872.4:p.Val1980Ala
ENST00000422373.6:c.3161-623T>C ENSP00000416926.2:n.3161-623T>C
ENST00000610817.5:c.6077T>C ENSP00000480593.2:n.6077T>C
ENST00000673639.2:c.280-4608T>C
ENST00000676696.1:c.6299T>C ENSP00000503392.1:n.6299T>C
ENST00000678304.1:n.1199T>C
ENST00000344736.8:c.5900T>C ENSP00000358863.3:p.Val1967Ala
ENST00000360319.8:c.5996T>C ENSP00000353467.4:p.Val1999Ala
ENST00000369850.7:c.6020T>C ENSP00000358866.3:p.Val2007Ala
ENST00000369856.7:c.5939T>C ENSP00000358872.4:p.Val1980Ala
ENST00000415241.1:c.205T>C
ENST00000420627.5:c.5976T>C ENSP00000408921.1:n.5976T>C
ENST00000422373.5:c.5996T>C ENSP00000416926.1:p.Val1999Ala
ENST00000438732.2:c.694T>C
ENST00000466325.1:n.159T>C
ENST00000490936.5:n.2009T>C
ENST00000610817.4:c.5844+95T>C ENSP00000480593.1:n.5844+95T>C
NM_001110556.1:c.6020T>C NP_001104026.1:p.Val2007Ala
NM_001456.3:c.5996T>C NP_001447.2:p.Val1999Ala
XM_011531127.1:c.5924T>C XP_011529429.1:p.Val1975Ala
XM_011531128.1:c.5900T>C XP_011529430.1:p.Val1967Ala
XM_011531129.1:c.5846T>C XP_011529431.1:p.Val1949Ala
XM_011531130.1:c.5822T>C XP_011529432.1:p.Val1941Ala
XM_011531131.1:c.5819T>C XP_011529433.1:p.Val1940Ala
NM_001110556.2:c.6020T>C MANE Select NP_001104026.1:p.Val2007Ala
NM_001456.4:c.5996T>C NP_001447.2:p.Val1999Ala