Canonical Allele Identifier: CA6125487
Gene: CTSF HGNC NCBI

Linked Data

ClinVar Variation Id: 588058
dbSNP Id: rs143313688

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66566336G>A , CM000673.2:g.66566336G>A GRCh38
NC_000011.9:g.66333807G>A , CM000673.1:g.66333807G>A GRCh37
NC_000011.8:g.66090383G>A NCBI36
NG_032973.1:g.7241C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310325.10:c.676C>T MANE Select ENSP00000310832.5:p.Arg226Cys
ENST00000524994.6:c.673C>T ENSP00000433082.2:p.Arg225Cys
ENST00000525733.6:c.676C>T ENSP00000434936.2:p.Arg226Cys
ENST00000526010.2:c.400C>T ENSP00000435822.2:p.Arg134Cys
ENST00000527141.6:n.575C>T
ENST00000529561.6:n.514C>T
ENST00000530565.6:n.205C>T
ENST00000533168.2:n.764C>T
ENST00000676860.1:n.627C>T
ENST00000676924.1:c.676C>T ENSP00000503579.1:p.Arg226Cys
ENST00000677005.1:c.676C>T ENSP00000503238.1:p.Arg226Cys
ENST00000677186.1:n.796C>T
ENST00000677298.1:n.1082C>T
ENST00000677365.1:n.735C>T
ENST00000677526.1:c.676C>T ENSP00000504693.1:p.Arg226Cys
ENST00000677587.1:c.718C>T ENSP00000503791.1:p.Arg240Cys
ENST00000677779.1:n.521C>T
ENST00000677896.1:c.667C>T ENSP00000504605.1:p.Arg223Cys
ENST00000677920.1:c.676C>T ENSP00000503614.1:p.Arg226Cys
ENST00000678154.1:c.*338C>T ENSP00000502935.1:n.*338C>T
ENST00000678294.1:n.792C>T
ENST00000678305.1:c.604C>T ENSP00000504383.1:p.Arg202Cys
ENST00000678383.1:n.685C>T
ENST00000678413.1:c.676C>T ENSP00000503232.1:p.Arg226Cys
ENST00000678471.1:c.676C>T ENSP00000502949.1:p.Arg226Cys
ENST00000678710.1:c.676C>T ENSP00000504254.1:p.Arg226Cys
ENST00000678872.1:c.676C>T ENSP00000503425.1:p.Arg226Cys
ENST00000678946.1:n.608C>T
ENST00000678953.1:c.*412C>T ENSP00000504169.1:n.*412C>T
ENST00000679011.1:c.676C>T ENSP00000503980.1:p.Arg226Cys
ENST00000679024.1:c.676C>T ENSP00000503506.1:p.Arg226Cys
ENST00000679160.1:c.601C>T ENSP00000503972.1:p.Arg201Cys
ENST00000679225.1:n.616C>T
ENST00000679314.1:c.676C>T ENSP00000503465.1:p.Arg226Cys
ENST00000679347.1:c.676C>T ENSP00000503676.1:p.Arg226Cys
ENST00000310325.9:c.676C>T ENSP00000310832.5:p.Arg226Cys
ENST00000524994.5:c.218C>T
ENST00000527141.5:n.197C>T
ENST00000529561.5:n.514C>T
ENST00000533168.1:n.531C>T
NM_003793.3:c.676C>T NP_003784.2:p.Arg226Cys
XM_011545328.1:c.496C>T XP_011543630.1:p.Arg166Cys
XM_011545328.2:c.496C>T XP_011543630.1:p.Arg166Cys
NM_003793.4:c.676C>T MANE Select NP_003784.2:p.Arg226Cys