Canonical Allele Identifier: CA415192536
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352649C>G , CM000685.2:g.154352649C>G GRCh38
NC_000023.10:g.153581017C>G , CM000685.1:g.153581017C>G GRCh37
NC_000023.9:g.153234211C>G NCBI36
NG_011506.1:g.26990G>C
NG_011506.2:g.26990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6382G>C ENSP00000353467.4:p.Gly2128Arg
ENST00000369850.10:c.6406G>C MANE Select ENSP00000358866.3:p.Gly2136Arg
ENST00000369856.8:c.6325G>C ENSP00000358872.4:p.Gly2109Arg
ENST00000422373.6:c.3187G>C ENSP00000416926.2:p.Gly1063Arg
ENST00000610817.5:c.6463G>C ENSP00000480593.2:n.6463G>C
ENST00000673639.2:c.280-3959G>C
ENST00000676696.1:c.6685G>C ENSP00000503392.1:n.6685G>C
ENST00000678304.1:n.1585G>C
ENST00000344736.8:c.6286G>C ENSP00000358863.3:p.Gly2096Arg
ENST00000360319.8:c.6382G>C ENSP00000353467.4:p.Gly2128Arg
ENST00000369850.7:c.6406G>C ENSP00000358866.3:p.Gly2136Arg
ENST00000369856.7:c.6325G>C ENSP00000358872.4:p.Gly2109Arg
ENST00000415241.1:c.608G>C
ENST00000420627.5:c.6362G>C ENSP00000408921.1:n.6362G>C
ENST00000422373.5:c.6382G>C ENSP00000416926.1:p.Gly2128Arg
ENST00000444578.1:c.322+123G>C ENSP00000397824.1:n.322+123G>C
ENST00000466325.1:n.717G>C
ENST00000474358.5:n.39G>C
ENST00000490936.5:n.2395G>C
ENST00000498411.1:n.67+168G>C
ENST00000610817.4:c.5845-699G>C ENSP00000480593.1:n.5845-699G>C
NM_001110556.1:c.6406G>C NP_001104026.1:p.Gly2136Arg
NM_001456.3:c.6382G>C NP_001447.2:p.Gly2128Arg
XM_011531127.1:c.6310G>C XP_011529429.1:p.Gly2104Arg
XM_011531128.1:c.6286G>C XP_011529430.1:p.Gly2096Arg
XM_011531129.1:c.6232G>C XP_011529431.1:p.Gly2078Arg
XM_011531130.1:c.6208G>C XP_011529432.1:p.Gly2070Arg
XM_011531131.1:c.6205G>C XP_011529433.1:p.Gly2069Arg
NM_001110556.2:c.6406G>C MANE Select NP_001104026.1:p.Gly2136Arg
NM_001456.4:c.6382G>C NP_001447.2:p.Gly2128Arg