Canonical Allele Identifier: CA415197126
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353319T>G , CM000685.2:g.154353319T>G GRCh38
NC_000023.10:g.153581687T>G , CM000685.1:g.153581687T>G GRCh37
NC_000023.9:g.153234881T>G NCBI36
NG_011506.1:g.26320A>C
NG_011506.2:g.26320A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5975A>C ENSP00000353467.4:p.Lys1992Thr
ENST00000369850.10:c.5999A>C MANE Select ENSP00000358866.3:p.Lys2000Thr
ENST00000369856.8:c.5918A>C ENSP00000358872.4:p.Lys1973Thr
ENST00000422373.6:c.3161-644A>C ENSP00000416926.2:n.3161-644A>C
ENST00000610817.5:c.6056A>C ENSP00000480593.2:n.6056A>C
ENST00000673639.2:c.280-4629A>C
ENST00000676696.1:c.6278A>C ENSP00000503392.1:n.6278A>C
ENST00000678304.1:n.1178A>C
ENST00000344736.8:c.5879A>C ENSP00000358863.3:p.Lys1960Thr
ENST00000360319.8:c.5975A>C ENSP00000353467.4:p.Lys1992Thr
ENST00000369850.7:c.5999A>C ENSP00000358866.3:p.Lys2000Thr
ENST00000369856.7:c.5918A>C ENSP00000358872.4:p.Lys1973Thr
ENST00000415241.1:c.184A>C
ENST00000420627.5:c.5955A>C ENSP00000408921.1:n.5955A>C
ENST00000422373.5:c.5975A>C ENSP00000416926.1:p.Lys1992Thr
ENST00000438732.2:c.673A>C
ENST00000466325.1:n.138A>C
ENST00000490936.5:n.1988A>C
ENST00000610817.4:c.5844+74A>C ENSP00000480593.1:n.5844+74A>C
NM_001110556.1:c.5999A>C NP_001104026.1:p.Lys2000Thr
NM_001456.3:c.5975A>C NP_001447.2:p.Lys1992Thr
XM_011531127.1:c.5903A>C XP_011529429.1:p.Lys1968Thr
XM_011531128.1:c.5879A>C XP_011529430.1:p.Lys1960Thr
XM_011531129.1:c.5825A>C XP_011529431.1:p.Lys1942Thr
XM_011531130.1:c.5801A>C XP_011529432.1:p.Lys1934Thr
XM_011531131.1:c.5798A>C XP_011529433.1:p.Lys1933Thr
NM_001110556.2:c.5999A>C MANE Select NP_001104026.1:p.Lys2000Thr
NM_001456.4:c.5975A>C NP_001447.2:p.Lys1992Thr