Canonical Allele Identifier: CA6125257
Community Standard Title: NM_003793.4(CTSF):c.1253G>A (p.Arg418His)
Gene: CTSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66564626C>T , CM000673.2:g.66564626C>T GRCh38
NC_000011.9:g.66332097C>T , CM000673.1:g.66332097C>T GRCh37
NC_000011.8:g.66088673C>T NCBI36
NG_013304.2:g.22707C>T
NG_032973.1:g.8951G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003793.4:c.1253G>A MANE Select NP_003784.2:p.Arg418His
ENST00000310325.10:c.1253G>A MANE Select ENSP00000310832.5:p.Arg418His
NM_003793.3:c.1253G>A NP_003784.2:p.Arg418His
ENST00000310325.9:c.1253G>A ENSP00000310832.5:p.Arg418His
ENST00000524994.5:c.795G>A
ENST00000524994.6:c.1250G>A ENSP00000433082.2:p.Arg417His
ENST00000525733.5:c.520G>A
ENST00000525733.6:c.*447G>A ENSP00000434936.2:n.*447G>A
ENST00000526010.2:c.977G>A ENSP00000435822.2:p.Arg326His
ENST00000527141.5:n.774G>A
ENST00000527141.6:n.1152G>A
ENST00000530565.6:n.1792G>A
ENST00000533168.2:n.1434G>A
ENST00000676860.1:n.1204G>A
ENST00000676924.1:c.*273G>A ENSP00000503579.1:n.*273G>A
ENST00000677005.1:c.1253G>A ENSP00000503238.1:p.Arg418His
ENST00000677020.1:n.886G>A
ENST00000677186.1:n.1351-22G>A
ENST00000677298.1:n.1659G>A
ENST00000677365.1:n.1391G>A
ENST00000677526.1:c.*217G>A ENSP00000504693.1:n.*217G>A
ENST00000677587.1:c.1295G>A ENSP00000503791.1:p.Arg432His
ENST00000677678.1:n.662G>A
ENST00000677779.1:n.1098G>A
ENST00000677896.1:c.1244G>A ENSP00000504605.1:p.Arg415His
ENST00000677920.1:c.*505G>A ENSP00000503614.1:n.*505G>A
ENST00000678154.1:c.*915G>A ENSP00000502935.1:n.*915G>A
ENST00000678294.1:n.1369G>A
ENST00000678305.1:c.1181G>A ENSP00000504383.1:p.Arg394His
ENST00000678383.1:n.2005G>A
ENST00000678413.1:c.*447G>A ENSP00000503232.1:n.*447G>A
ENST00000678471.1:c.1250G>A ENSP00000502949.1:p.Arg417His
ENST00000678614.1:n.1349G>A
ENST00000678710.1:c.1188G>A ENSP00000504254.1:p.Pro396=
ENST00000678872.1:c.1253G>A ENSP00000503425.1:p.Arg418His
ENST00000678946.1:n.1278G>A
ENST00000678953.1:c.*989G>A ENSP00000504169.1:n.*989G>A
ENST00000679011.1:c.*217G>A ENSP00000503980.1:n.*217G>A
ENST00000679024.1:c.1253G>A ENSP00000503506.1:p.Arg418His
ENST00000679160.1:c.1178G>A ENSP00000503972.1:p.Arg393His
ENST00000679225.1:n.1193G>A
ENST00000679314.1:c.*347G>A ENSP00000503465.1:n.*347G>A
ENST00000679347.1:c.1253G>A ENSP00000503676.1:p.Arg418His
XM_011545328.1:c.1073G>A XP_011543630.1:p.Arg358His
XM_011545328.2:c.1073G>A XP_011543630.1:p.Arg358His