Canonical Allele Identifier: CA119051
Gene: CASP8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7762
dbSNP Id: rs1045485

User contributed link-outs

Civic: CA119051

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201284866G>C , CM000664.2:g.201284866G>C GRCh38
NC_000002.11:g.202149589G>C , CM000664.1:g.202149589G>C GRCh37
NC_000002.10:g.201857834G>C NCBI36
NG_007497.1:g.56409G>C , LRG_34:g.56409G>C

Transcript Alleles

HGVS Amino-acid change
NM_001080124.1:c.808G>C VV NP_001073593.1:p.Asp270His
NM_001080125.1:c.1030G>C VV NP_001073594.1:p.Asp344His
NM_001228.4:c.904G>C , LRG_34t1:c.904G>C NP_001219.2:p.Asp302His
NM_033355.3:c.853G>C , LRG_34t2:c.853G>C NP_203519.1:p.Asp285His
NM_033356.3:c.808G>C VV NP_203520.1:p.Asp270His
NR_111983.1:n.1367G>C
XM_005246885.1:c.985G>C XP_005246942.1:p.Asp329His
XM_005246886.1:c.853G>C XP_005246943.1:p.Asp285His
XM_005246887.1:c.853G>C XP_005246944.1:p.Asp285His
XM_005246888.1:c.853G>C XP_005246945.1:p.Asp285His
XM_005246889.1:c.853G>C XP_005246946.1:p.Asp285His
XM_005246890.2:c.853G>C XP_005246947.1:p.Asp285His
XM_005246891.3:c.853G>C XP_005246948.1:p.Asp285His
XM_005246892.1:c.808G>C XP_005246949.1:p.Asp270His
XM_005246893.2:c.*80G>C XP_005246950.1:p.=
XM_005246894.2:c.256G>C XP_005246951.1:p.Asp86His
XM_005246895.2:c.*80G>C XP_005246952.1:p.=
XM_006712789.1:c.853G>C XP_006712852.1:p.Asp285His
XM_006712790.2:c.853G>C XP_006712853.1:p.Asp285His
XM_006712791.1:c.778G>C XP_006712854.1:p.Asp260His
XM_006712793.2:c.*80G>C XP_006712856.1:p.=
XM_011511969.1:c.418G>C XP_011510271.1:p.Asp140His
XR_923035.1:n.1122G>C
XM_005246885.2:c.985G>C
XM_005246886.2:c.853G>C
XM_005246887.2:c.853G>C
XM_005246888.2:c.853G>C
XM_005246889.2:c.853G>C
XM_005246890.4:c.853G>C
XM_005246891.5:c.853G>C
XM_005246892.2:c.808G>C
XM_005246893.3:c.*80G>C
XM_005246894.4:c.256G>C
XM_005246895.3:c.*80G>C
XM_006712789.2:c.853G>C
XM_006712790.4:c.853G>C
XM_006712793.3:c.*80G>C
XM_011511969.2:c.418G>C
XR_001738971.1:n.1200G>C
ENST00000264274.13:c.601G>C ENSP00000264274.9:p.Asp201His
ENST00000264275.9:c.904G>C ENSP00000264275.5:p.Asp302His
ENST00000323492.11:c.808G>C ENSP00000325722.7:p.Asp270His
ENST00000339403.6:n.1074G>C
ENST00000358485.8:c.1030G>C ENSP00000351273.4:p.Asp344His
ENST00000392263.6:c.808G>C ENSP00000376091.2:p.Asp270His
ENST00000432109.6:c.853G>C ENSP00000412523.2:p.Asp285His
ENST00000444430.2:n.190G>C ENSP00000394434.2:p.Asp64His