Canonical Allele Identifier: CA415196005
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353112T>G , CM000685.2:g.154353112T>G GRCh38
NC_000023.10:g.153581480T>G , CM000685.1:g.153581480T>G GRCh37
NC_000023.9:g.153234674T>G NCBI36
NG_011506.1:g.26527A>C
NG_011506.2:g.26527A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6091A>C ENSP00000353467.4:p.Ile2031Leu
ENST00000369850.10:c.6115A>C MANE Select ENSP00000358866.3:p.Ile2039Leu
ENST00000369856.8:c.6034A>C ENSP00000358872.4:p.Ile2012Leu
ENST00000422373.6:c.3161-437A>C ENSP00000416926.2:n.3161-437A>C
ENST00000610817.5:c.6172A>C ENSP00000480593.2:n.6172A>C
ENST00000673639.2:c.280-4422A>C
ENST00000676696.1:c.6394A>C ENSP00000503392.1:n.6394A>C
ENST00000678304.1:n.1294A>C
ENST00000344736.8:c.5995A>C ENSP00000358863.3:p.Ile1999Leu
ENST00000360319.8:c.6091A>C ENSP00000353467.4:p.Ile2031Leu
ENST00000369850.7:c.6115A>C ENSP00000358866.3:p.Ile2039Leu
ENST00000369856.7:c.6034A>C ENSP00000358872.4:p.Ile2012Leu
ENST00000415241.1:c.317A>C
ENST00000420627.5:c.6071A>C ENSP00000408921.1:n.6071A>C
ENST00000422373.5:c.6091A>C ENSP00000416926.1:p.Ile2031Leu
ENST00000444578.1:c.58A>C ENSP00000397824.1:p.Ile20Leu
ENST00000466325.1:n.254A>C
ENST00000490936.5:n.2104A>C
ENST00000610817.4:c.5844+281A>C ENSP00000480593.1:n.5844+281A>C
NM_001110556.1:c.6115A>C NP_001104026.1:p.Ile2039Leu
NM_001456.3:c.6091A>C NP_001447.2:p.Ile2031Leu
XM_011531127.1:c.6019A>C XP_011529429.1:p.Ile2007Leu
XM_011531128.1:c.5995A>C XP_011529430.1:p.Ile1999Leu
XM_011531129.1:c.5941A>C XP_011529431.1:p.Ile1981Leu
XM_011531130.1:c.5917A>C XP_011529432.1:p.Ile1973Leu
XM_011531131.1:c.5914A>C XP_011529433.1:p.Ile1972Leu
NM_001110556.2:c.6115A>C MANE Select NP_001104026.1:p.Ile2039Leu
NM_001456.4:c.6091A>C NP_001447.2:p.Ile2031Leu