Canonical Allele Identifier: CA415197289
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353336C>A , CM000685.2:g.154353336C>A GRCh38
NC_000023.10:g.153581704C>A , CM000685.1:g.153581704C>A GRCh37
NC_000023.9:g.153234898C>A NCBI36
NG_011506.1:g.26303G>T
NG_011506.2:g.26303G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5958G>T ENSP00000353467.4:p.Glu1986Asp
ENST00000369850.10:c.5982G>T MANE Select ENSP00000358866.3:p.Glu1994Asp
ENST00000369856.8:c.5901G>T ENSP00000358872.4:p.Glu1967Asp
ENST00000422373.6:c.3161-661G>T ENSP00000416926.2:n.3161-661G>T
ENST00000610817.5:c.6039G>T ENSP00000480593.2:n.6039G>T
ENST00000673639.2:c.280-4646G>T
ENST00000676696.1:c.6261G>T ENSP00000503392.1:n.6261G>T
ENST00000678304.1:n.1161G>T
ENST00000344736.8:c.5862G>T ENSP00000358863.3:p.Glu1954Asp
ENST00000360319.8:c.5958G>T ENSP00000353467.4:p.Glu1986Asp
ENST00000369850.7:c.5982G>T ENSP00000358866.3:p.Glu1994Asp
ENST00000369856.7:c.5901G>T ENSP00000358872.4:p.Glu1967Asp
ENST00000415241.1:c.167G>T
ENST00000420627.5:c.5938G>T ENSP00000408921.1:n.5938G>T
ENST00000422373.5:c.5958G>T ENSP00000416926.1:p.Glu1986Asp
ENST00000438732.2:c.656G>T
ENST00000466325.1:n.121G>T
ENST00000490936.5:n.1971G>T
ENST00000610817.4:c.5844+57G>T ENSP00000480593.1:n.5844+57G>T
NM_001110556.1:c.5982G>T NP_001104026.1:p.Glu1994Asp
NM_001456.3:c.5958G>T NP_001447.2:p.Glu1986Asp
XM_011531127.1:c.5886G>T XP_011529429.1:p.Glu1962Asp
XM_011531128.1:c.5862G>T XP_011529430.1:p.Glu1954Asp
XM_011531129.1:c.5808G>T XP_011529431.1:p.Glu1936Asp
XM_011531130.1:c.5784G>T XP_011529432.1:p.Glu1928Asp
XM_011531131.1:c.5781G>T XP_011529433.1:p.Glu1927Asp
NM_001110556.2:c.5982G>T MANE Select NP_001104026.1:p.Glu1994Asp
NM_001456.4:c.5958G>T NP_001447.2:p.Glu1986Asp