Canonical Allele Identifier: CA415196495
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353173C>G , CM000685.2:g.154353173C>G GRCh38
NC_000023.10:g.153581541C>G , CM000685.1:g.153581541C>G GRCh37
NC_000023.9:g.153234735C>G NCBI36
NG_011506.1:g.26466G>C
NG_011506.2:g.26466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6030G>C ENSP00000353467.4:p.Glu2010Asp
ENST00000369850.10:c.6054G>C MANE Select ENSP00000358866.3:p.Glu2018Asp
ENST00000369856.8:c.5973G>C ENSP00000358872.4:p.Glu1991Asp
ENST00000422373.6:c.3161-498G>C ENSP00000416926.2:n.3161-498G>C
ENST00000610817.5:c.6111G>C ENSP00000480593.2:n.6111G>C
ENST00000673639.2:c.280-4483G>C
ENST00000676696.1:c.6333G>C ENSP00000503392.1:n.6333G>C
ENST00000678304.1:n.1233G>C
ENST00000344736.8:c.5934G>C ENSP00000358863.3:p.Glu1978Asp
ENST00000360319.8:c.6030G>C ENSP00000353467.4:p.Glu2010Asp
ENST00000369850.7:c.6054G>C ENSP00000358866.3:p.Glu2018Asp
ENST00000369856.7:c.5973G>C ENSP00000358872.4:p.Glu1991Asp
ENST00000415241.1:c.256G>C
ENST00000420627.5:c.6010G>C ENSP00000408921.1:n.6010G>C
ENST00000422373.5:c.6030G>C ENSP00000416926.1:p.Glu2010Asp
ENST00000466325.1:n.193G>C
ENST00000490936.5:n.2043G>C
ENST00000610817.4:c.5844+220G>C ENSP00000480593.1:n.5844+220G>C
NM_001110556.1:c.6054G>C NP_001104026.1:p.Glu2018Asp
NM_001456.3:c.6030G>C NP_001447.2:p.Glu2010Asp
XM_011531127.1:c.5958G>C XP_011529429.1:p.Glu1986Asp
XM_011531128.1:c.5934G>C XP_011529430.1:p.Glu1978Asp
XM_011531129.1:c.5880G>C XP_011529431.1:p.Glu1960Asp
XM_011531130.1:c.5856G>C XP_011529432.1:p.Glu1952Asp
XM_011531131.1:c.5853G>C XP_011529433.1:p.Glu1951Asp
NM_001110556.2:c.6054G>C MANE Select NP_001104026.1:p.Glu2018Asp
NM_001456.4:c.6030G>C NP_001447.2:p.Glu2010Asp