Canonical Allele Identifier: CA415193896
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352854G>C , CM000685.2:g.154352854G>C GRCh38
NC_000023.10:g.153581222G>C , CM000685.1:g.153581222G>C GRCh37
NC_000023.9:g.153234416G>C NCBI36
NG_011506.1:g.26785C>G
NG_011506.2:g.26785C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6273C>G ENSP00000353467.4:p.Asp2091Glu
ENST00000369850.10:c.6297C>G MANE Select ENSP00000358866.3:p.Asp2099Glu
ENST00000369856.8:c.6216C>G ENSP00000358872.4:p.Asp2072Glu
ENST00000422373.6:c.3161-179C>G ENSP00000416926.2:n.3161-179C>G
ENST00000610817.5:c.6354C>G ENSP00000480593.2:n.6354C>G
ENST00000673639.2:c.280-4164C>G
ENST00000676696.1:c.6576C>G ENSP00000503392.1:n.6576C>G
ENST00000678304.1:n.1476C>G
ENST00000344736.8:c.6177C>G ENSP00000358863.3:p.Asp2059Glu
ENST00000360319.8:c.6273C>G ENSP00000353467.4:p.Asp2091Glu
ENST00000369850.7:c.6297C>G ENSP00000358866.3:p.Asp2099Glu
ENST00000369856.7:c.6216C>G ENSP00000358872.4:p.Asp2072Glu
ENST00000415241.1:c.499C>G
ENST00000420627.5:c.6253C>G ENSP00000408921.1:n.6253C>G
ENST00000422373.5:c.6273C>G ENSP00000416926.1:p.Asp2091Glu
ENST00000444578.1:c.240C>G ENSP00000397824.1:p.Asp80Glu
ENST00000466325.1:n.512C>G
ENST00000490936.5:n.2286C>G
ENST00000498411.1:n.30C>G
ENST00000610817.4:c.5844+539C>G ENSP00000480593.1:n.5844+539C>G
NM_001110556.1:c.6297C>G NP_001104026.1:p.Asp2099Glu
NM_001456.3:c.6273C>G NP_001447.2:p.Asp2091Glu
XM_011531127.1:c.6201C>G XP_011529429.1:p.Asp2067Glu
XM_011531128.1:c.6177C>G XP_011529430.1:p.Asp2059Glu
XM_011531129.1:c.6123C>G XP_011529431.1:p.Asp2041Glu
XM_011531130.1:c.6099C>G XP_011529432.1:p.Asp2033Glu
XM_011531131.1:c.6096C>G XP_011529433.1:p.Asp2032Glu
NM_001110556.2:c.6297C>G MANE Select NP_001104026.1:p.Asp2099Glu
NM_001456.4:c.6273C>G NP_001447.2:p.Asp2091Glu