Canonical Allele Identifier: CA415195317
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353035C>G , CM000685.2:g.154353035C>G GRCh38
NC_000023.10:g.153581403C>G , CM000685.1:g.153581403C>G GRCh37
NC_000023.9:g.153234597C>G NCBI36
NG_011506.1:g.26604G>C
NG_011506.2:g.26604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6168G>C ENSP00000353467.4:p.Glu2056Asp
ENST00000369850.10:c.6192G>C MANE Select ENSP00000358866.3:p.Glu2064Asp
ENST00000369856.8:c.6111G>C ENSP00000358872.4:p.Glu2037Asp
ENST00000422373.6:c.3161-360G>C ENSP00000416926.2:n.3161-360G>C
ENST00000610817.5:c.6249G>C ENSP00000480593.2:n.6249G>C
ENST00000673639.2:c.280-4345G>C
ENST00000676696.1:c.6471G>C ENSP00000503392.1:n.6471G>C
ENST00000678304.1:n.1371G>C
ENST00000344736.8:c.6072G>C ENSP00000358863.3:p.Glu2024Asp
ENST00000360319.8:c.6168G>C ENSP00000353467.4:p.Glu2056Asp
ENST00000369850.7:c.6192G>C ENSP00000358866.3:p.Glu2064Asp
ENST00000369856.7:c.6111G>C ENSP00000358872.4:p.Glu2037Asp
ENST00000415241.1:c.394G>C
ENST00000420627.5:c.6148G>C ENSP00000408921.1:n.6148G>C
ENST00000422373.5:c.6168G>C ENSP00000416926.1:p.Glu2056Asp
ENST00000444578.1:c.135G>C ENSP00000397824.1:p.Glu45Asp
ENST00000466325.1:n.331G>C
ENST00000490936.5:n.2181G>C
ENST00000610817.4:c.5844+358G>C ENSP00000480593.1:n.5844+358G>C
NM_001110556.1:c.6192G>C NP_001104026.1:p.Glu2064Asp
NM_001456.3:c.6168G>C NP_001447.2:p.Glu2056Asp
XM_011531127.1:c.6096G>C XP_011529429.1:p.Glu2032Asp
XM_011531128.1:c.6072G>C XP_011529430.1:p.Glu2024Asp
XM_011531129.1:c.6018G>C XP_011529431.1:p.Glu2006Asp
XM_011531130.1:c.5994G>C XP_011529432.1:p.Glu1998Asp
XM_011531131.1:c.5991G>C XP_011529433.1:p.Glu1997Asp
NM_001110556.2:c.6192G>C MANE Select NP_001104026.1:p.Glu2064Asp
NM_001456.4:c.6168G>C NP_001447.2:p.Glu2056Asp