Canonical Allele Identifier: CA415196198
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353136C>G , CM000685.2:g.154353136C>G GRCh38
NC_000023.10:g.153581504C>G , CM000685.1:g.153581504C>G GRCh37
NC_000023.9:g.153234698C>G NCBI36
NG_011506.1:g.26503G>C
NG_011506.2:g.26503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6067G>C ENSP00000353467.4:p.Ala2023Pro
ENST00000369850.10:c.6091G>C MANE Select ENSP00000358866.3:p.Ala2031Pro
ENST00000369856.8:c.6010G>C ENSP00000358872.4:p.Ala2004Pro
ENST00000422373.6:c.3161-461G>C ENSP00000416926.2:n.3161-461G>C
ENST00000610817.5:c.6148G>C ENSP00000480593.2:n.6148G>C
ENST00000673639.2:c.280-4446G>C
ENST00000676696.1:c.6370G>C ENSP00000503392.1:n.6370G>C
ENST00000678304.1:n.1270G>C
ENST00000344736.8:c.5971G>C ENSP00000358863.3:p.Ala1991Pro
ENST00000360319.8:c.6067G>C ENSP00000353467.4:p.Ala2023Pro
ENST00000369850.7:c.6091G>C ENSP00000358866.3:p.Ala2031Pro
ENST00000369856.7:c.6010G>C ENSP00000358872.4:p.Ala2004Pro
ENST00000415241.1:c.293G>C
ENST00000420627.5:c.6047G>C ENSP00000408921.1:n.6047G>C
ENST00000422373.5:c.6067G>C ENSP00000416926.1:p.Ala2023Pro
ENST00000444578.1:c.34G>C ENSP00000397824.1:p.Ala12Pro
ENST00000466325.1:n.230G>C
ENST00000490936.5:n.2080G>C
ENST00000610817.4:c.5844+257G>C ENSP00000480593.1:n.5844+257G>C
NM_001110556.1:c.6091G>C NP_001104026.1:p.Ala2031Pro
NM_001456.3:c.6067G>C NP_001447.2:p.Ala2023Pro
XM_011531127.1:c.5995G>C XP_011529429.1:p.Ala1999Pro
XM_011531128.1:c.5971G>C XP_011529430.1:p.Ala1991Pro
XM_011531129.1:c.5917G>C XP_011529431.1:p.Ala1973Pro
XM_011531130.1:c.5893G>C XP_011529432.1:p.Ala1965Pro
XM_011531131.1:c.5890G>C XP_011529433.1:p.Ala1964Pro
NM_001110556.2:c.6091G>C MANE Select NP_001104026.1:p.Ala2031Pro
NM_001456.4:c.6067G>C NP_001447.2:p.Ala2023Pro