Canonical Allele Identifier: CA415184849
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350937C>G , CM000685.2:g.154350937C>G GRCh38
NC_000023.10:g.153579305C>G , CM000685.1:g.153579305C>G GRCh37
NC_000023.9:g.153232499C>G NCBI36
NG_011506.1:g.28702G>C
NG_011506.2:g.28702G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.7104G>C ENSP00000353467.4:p.Glu2368Asp
ENST00000369850.10:c.7128G>C MANE Select ENSP00000358866.3:p.Glu2376Asp
ENST00000369856.8:c.7047G>C ENSP00000358872.4:p.Glu2349Asp
ENST00000422373.6:c.3909G>C ENSP00000416926.2:p.Glu1303Asp
ENST00000610817.5:c.7185G>C ENSP00000480593.2:n.7185G>C
ENST00000673639.2:c.280-2247G>C
ENST00000676696.1:c.7407G>C ENSP00000503392.1:n.7407G>C
ENST00000678304.1:n.2846G>C
ENST00000344736.8:c.7008G>C ENSP00000358863.3:p.Glu2336Asp
ENST00000360319.8:c.7104G>C ENSP00000353467.4:p.Glu2368Asp
ENST00000369850.7:c.7128G>C ENSP00000358866.3:p.Glu2376Asp
ENST00000369856.7:c.7047G>C ENSP00000358872.4:p.Glu2349Asp
ENST00000420627.5:c.7084G>C ENSP00000408921.1:n.7084G>C
ENST00000422373.5:c.7104G>C ENSP00000416926.1:p.Glu2368Asp
ENST00000490936.5:n.3656G>C
ENST00000498411.1:n.67+1880G>C
ENST00000498491.5:n.169G>C
ENST00000610817.4:c.6132G>C ENSP00000480593.1:p.Glu2044Asp
NM_001110556.1:c.7128G>C NP_001104026.1:p.Glu2376Asp
NM_001456.3:c.7104G>C NP_001447.2:p.Glu2368Asp
XM_011531127.1:c.7032G>C XP_011529429.1:p.Glu2344Asp
XM_011531128.1:c.7008G>C XP_011529430.1:p.Glu2336Asp
XM_011531129.1:c.6954G>C XP_011529431.1:p.Glu2318Asp
XM_011531130.1:c.6930G>C XP_011529432.1:p.Glu2310Asp
XM_011531131.1:c.6927G>C XP_011529433.1:p.Glu2309Asp
NM_001110556.2:c.7128G>C MANE Select NP_001104026.1:p.Glu2376Asp
NM_001456.4:c.7104G>C NP_001447.2:p.Glu2368Asp