Canonical Allele Identifier: CA415207675
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154354915G>C , CM000685.2:g.154354915G>C GRCh38
NC_000023.10:g.153583283G>C , CM000685.1:g.153583283G>C GRCh37
NC_000023.9:g.153236477G>C NCBI36
NG_011506.1:g.24724C>G
NG_011506.2:g.24724C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5103C>G ENSP00000353467.4:p.Asp1701Glu
ENST00000369850.10:c.5127C>G MANE Select ENSP00000358866.3:p.Asp1709Glu
ENST00000369856.8:c.5046C>G ENSP00000358872.4:p.Asp1682Glu
ENST00000422373.6:c.3161-2240C>G ENSP00000416926.2:n.3161-2240C>G
ENST00000610817.5:c.5184C>G ENSP00000480593.2:n.5184C>G
ENST00000673639.2:c.280-6225C>G
ENST00000676696.1:c.5406C>G ENSP00000503392.1:n.5406C>G
ENST00000678304.1:n.306C>G
ENST00000344736.8:c.5103C>G ENSP00000358863.3:p.Asp1701Glu
ENST00000360319.8:c.5103C>G ENSP00000353467.4:p.Asp1701Glu
ENST00000369850.7:c.5127C>G ENSP00000358866.3:p.Asp1709Glu
ENST00000369856.7:c.5046C>G ENSP00000358872.4:p.Asp1682Glu
ENST00000420627.5:c.5083C>G ENSP00000408921.1:n.5083C>G
ENST00000422373.5:c.5103C>G ENSP00000416926.1:p.Asp1701Glu
ENST00000490936.5:n.1116C>G
ENST00000610817.4:c.5046C>G ENSP00000480593.1:p.Asp1682Glu
NM_001110556.1:c.5127C>G NP_001104026.1:p.Asp1709Glu
NM_001456.3:c.5103C>G NP_001447.2:p.Asp1701Glu
XM_011531127.1:c.5127C>G XP_011529429.1:p.Asp1709Glu
XM_011531128.1:c.5103C>G XP_011529430.1:p.Asp1701Glu
XM_011531129.1:c.5127C>G XP_011529431.1:p.Asp1709Glu
XM_011531130.1:c.5103C>G XP_011529432.1:p.Asp1701Glu
XM_011531131.1:c.4926C>G XP_011529433.1:p.Asp1642Glu
NM_001110556.2:c.5127C>G MANE Select NP_001104026.1:p.Asp1709Glu
NM_001456.4:c.5103C>G NP_001447.2:p.Asp1701Glu