Canonical Allele Identifier: CA6125485
Gene: CTSF HGNC NCBI

Linked Data

ClinVar Variation Id: 424983
dbSNP Id: rs148611356

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66566329G>C , CM000673.2:g.66566329G>C GRCh38
NC_000011.9:g.66333800G>C , CM000673.1:g.66333800G>C GRCh37
NC_000011.8:g.66090376G>C NCBI36
NG_032973.1:g.7248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310325.10:c.683C>G MANE Select ENSP00000310832.5:p.Thr228Arg
ENST00000524994.6:c.680C>G ENSP00000433082.2:p.Thr227Arg
ENST00000525733.6:c.683C>G ENSP00000434936.2:p.Thr228Arg
ENST00000526010.2:c.407C>G ENSP00000435822.2:p.Thr136Arg
ENST00000527141.6:n.582C>G
ENST00000529561.6:n.521C>G
ENST00000530565.6:n.212C>G
ENST00000533168.2:n.771C>G
ENST00000676860.1:n.634C>G
ENST00000676924.1:c.683C>G ENSP00000503579.1:p.Thr228Arg
ENST00000677005.1:c.683C>G ENSP00000503238.1:p.Thr228Arg
ENST00000677186.1:n.803C>G
ENST00000677298.1:n.1089C>G
ENST00000677365.1:n.742C>G
ENST00000677526.1:c.683C>G ENSP00000504693.1:p.Thr228Arg
ENST00000677587.1:c.725C>G ENSP00000503791.1:p.Thr242Arg
ENST00000677779.1:n.528C>G
ENST00000677896.1:c.674C>G ENSP00000504605.1:p.Thr225Arg
ENST00000677920.1:c.683C>G ENSP00000503614.1:p.Thr228Arg
ENST00000678154.1:c.*345C>G ENSP00000502935.1:n.*345C>G
ENST00000678294.1:n.799C>G
ENST00000678305.1:c.611C>G ENSP00000504383.1:p.Thr204Arg
ENST00000678383.1:n.692C>G
ENST00000678413.1:c.683C>G ENSP00000503232.1:p.Thr228Arg
ENST00000678471.1:c.683C>G ENSP00000502949.1:p.Thr228Arg
ENST00000678710.1:c.683C>G ENSP00000504254.1:p.Thr228Arg
ENST00000678872.1:c.683C>G ENSP00000503425.1:p.Thr228Arg
ENST00000678946.1:n.615C>G
ENST00000678953.1:c.*419C>G ENSP00000504169.1:n.*419C>G
ENST00000679011.1:c.683C>G ENSP00000503980.1:p.Thr228Arg
ENST00000679024.1:c.683C>G ENSP00000503506.1:p.Thr228Arg
ENST00000679160.1:c.608C>G ENSP00000503972.1:p.Thr203Arg
ENST00000679225.1:n.623C>G
ENST00000679314.1:c.683C>G ENSP00000503465.1:p.Thr228Arg
ENST00000679347.1:c.683C>G ENSP00000503676.1:p.Thr228Arg
ENST00000310325.9:c.683C>G ENSP00000310832.5:p.Thr228Arg
ENST00000524994.5:c.225C>G
ENST00000527141.5:n.204C>G
ENST00000529561.5:n.521C>G
ENST00000533168.1:n.538C>G
NM_003793.3:c.683C>G NP_003784.2:p.Thr228Arg
XM_011545328.1:c.503C>G XP_011543630.1:p.Thr168Arg
XM_011545328.2:c.503C>G XP_011543630.1:p.Thr168Arg
NM_003793.4:c.683C>G MANE Select NP_003784.2:p.Thr228Arg