Canonical Allele Identifier: CA415194022
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352863G>C , CM000685.2:g.154352863G>C GRCh38
NC_000023.10:g.153581231G>C , CM000685.1:g.153581231G>C GRCh37
NC_000023.9:g.153234425G>C NCBI36
NG_011506.1:g.26776C>G
NG_011506.2:g.26776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6264C>G ENSP00000353467.4:p.Asp2088Glu
ENST00000369850.10:c.6288C>G MANE Select ENSP00000358866.3:p.Asp2096Glu
ENST00000369856.8:c.6207C>G ENSP00000358872.4:p.Asp2069Glu
ENST00000422373.6:c.3161-188C>G ENSP00000416926.2:n.3161-188C>G
ENST00000610817.5:c.6345C>G ENSP00000480593.2:n.6345C>G
ENST00000673639.2:c.280-4173C>G
ENST00000676696.1:c.6567C>G ENSP00000503392.1:n.6567C>G
ENST00000678304.1:n.1467C>G
ENST00000344736.8:c.6168C>G ENSP00000358863.3:p.Asp2056Glu
ENST00000360319.8:c.6264C>G ENSP00000353467.4:p.Asp2088Glu
ENST00000369850.7:c.6288C>G ENSP00000358866.3:p.Asp2096Glu
ENST00000369856.7:c.6207C>G ENSP00000358872.4:p.Asp2069Glu
ENST00000415241.1:c.490C>G
ENST00000420627.5:c.6244C>G ENSP00000408921.1:n.6244C>G
ENST00000422373.5:c.6264C>G ENSP00000416926.1:p.Asp2088Glu
ENST00000444578.1:c.231C>G ENSP00000397824.1:p.Asp77Glu
ENST00000466325.1:n.503C>G
ENST00000490936.5:n.2277C>G
ENST00000498411.1:n.21C>G
ENST00000610817.4:c.5844+530C>G ENSP00000480593.1:n.5844+530C>G
NM_001110556.1:c.6288C>G NP_001104026.1:p.Asp2096Glu
NM_001456.3:c.6264C>G NP_001447.2:p.Asp2088Glu
XM_011531127.1:c.6192C>G XP_011529429.1:p.Asp2064Glu
XM_011531128.1:c.6168C>G XP_011529430.1:p.Asp2056Glu
XM_011531129.1:c.6114C>G XP_011529431.1:p.Asp2038Glu
XM_011531130.1:c.6090C>G XP_011529432.1:p.Asp2030Glu
XM_011531131.1:c.6087C>G XP_011529433.1:p.Asp2029Glu
NM_001110556.2:c.6288C>G MANE Select NP_001104026.1:p.Asp2096Glu
NM_001456.4:c.6264C>G NP_001447.2:p.Asp2088Glu