Canonical Allele Identifier: CA1041241456
Gene: CASP8 HGNC NCBI

Linked Data

dbSNP Id: rs10931936
gnomAD v3: 2-201279205-T-A
gnomAD v4: 2-201279205-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201279205T>A , CM000664.2:g.201279205T>A GRCh38
NC_000002.11:g.202143928T>A , CM000664.1:g.202143928T>A GRCh37
NC_000002.10:g.201852173T>A NCBI36
NG_007497.1:g.50748T>A , LRG_34:g.50748T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413726.6:c.802+2237T>A ENSP00000397528.2:n.802+2237T>A
ENST00000440732.6:c.802+2237T>A ENSP00000396869.2:n.802+2237T>A
ENST00000444430.3:c.551-5611T>A ENSP00000394434.3:n.551-5611T>A
ENST00000447616.6:c.*29+2237T>A ENSP00000388306.2:n.*29+2237T>A
ENST00000450491.6:c.448+2237T>A ENSP00000391709.2:n.448+2237T>A
ENST00000696067.1:c.802+2237T>A ENSP00000512369.1:n.802+2237T>A
ENST00000696068.1:c.*29+2237T>A ENSP00000512370.1:n.*29+2237T>A
ENST00000696069.1:c.757+2237T>A ENSP00000512371.1:n.757+2237T>A
ENST00000696085.1:c.934+2237T>A ENSP00000512381.1:n.934+2237T>A
ENST00000696087.1:c.757+2237T>A ENSP00000512382.1:n.757+2237T>A
ENST00000673742.1:c.802+2237T>A MANE Select ENSP00000501268.1:n.802+2237T>A
ENST00000264274.13:c.551-5611T>A ENSP00000264274.9:n.551-5611T>A
ENST00000264275.9:c.853+2237T>A ENSP00000264275.5:n.853+2237T>A
ENST00000323492.11:c.757+2237T>A ENSP00000325722.7:n.757+2237T>A
ENST00000339403.6:n.1023+2101T>A
ENST00000358485.8:c.979+2237T>A ENSP00000351273.4:n.979+2237T>A
ENST00000392258.7:c.*29+2237T>A ENSP00000376087.3:n.*29+2237T>A
ENST00000392263.6:c.757+2237T>A ENSP00000376091.2:n.757+2237T>A
ENST00000424461.5:c.281+2237T>A ENSP00000390346.1:n.281+2237T>A
ENST00000432109.6:c.802+2237T>A ENSP00000412523.2:n.802+2237T>A
ENST00000444430.2:c.140-5611T>A ENSP00000394434.2:n.140-5611T>A
NM_001080124.1:c.757+2237T>A NP_001073593.1:n.757+2237T>A
NM_001080125.1:c.979+2237T>A NP_001073594.1:n.979+2237T>A
NM_001228.4:c.853+2237T>A , LRG_34t1:c.853+2237T>A NP_001219.2:n.853+2237T>A
NM_033355.3:c.802+2237T>A , LRG_34t2:c.802+2237T>A NP_203519.1:n.802+2237T>A
NM_033356.3:c.757+2237T>A NP_203520.1:n.757+2237T>A
NM_033358.3:c.*29+2237T>A NP_203522.1:n.*29+2237T>A
NR_111983.1:n.1316+2101T>A
XM_005246885.1:c.934+2237T>A XP_005246942.1:n.934+2237T>A
XM_005246886.1:c.802+2237T>A XP_005246943.1:n.802+2237T>A
XM_005246887.1:c.802+2237T>A XP_005246944.1:n.802+2237T>A
XM_005246888.1:c.802+2237T>A XP_005246945.1:n.802+2237T>A
XM_005246889.1:c.802+2237T>A XP_005246946.1:n.802+2237T>A
XM_005246890.2:c.802+2237T>A XP_005246947.1:n.802+2237T>A
XM_005246891.3:c.802+2237T>A XP_005246948.1:n.802+2237T>A
XM_005246892.1:c.757+2237T>A XP_005246949.1:n.757+2237T>A
XM_005246893.2:c.*29+2237T>A XP_005246950.1:n.*29+2237T>A
XM_005246894.2:c.205+2237T>A XP_005246951.1:n.205+2237T>A
XM_005246895.2:c.*29+2237T>A XP_005246952.1:n.*29+2237T>A
XM_006712789.1:c.802+2237T>A XP_006712852.1:n.802+2237T>A
XM_006712790.2:c.802+2237T>A XP_006712853.1:n.802+2237T>A
XM_006712791.1:c.728-5611T>A XP_006712854.1:n.728-5611T>A
XM_006712793.2:c.*29+2237T>A XP_006712856.1:n.*29+2237T>A
XM_011511968.1:c.980-11T>A XP_011510270.1:n.980-11T>A
XM_011511969.1:c.367+2237T>A XP_011510271.1:n.367+2237T>A
XM_011511970.1:c.*30-11T>A XP_011510272.1:n.*30-11T>A
XR_923035.1:n.1071+2101T>A
XM_005246885.2:c.934+2237T>A XP_005246942.1:n.934+2237T>A
XM_005246886.2:c.802+2237T>A XP_005246943.1:n.802+2237T>A
XM_005246887.2:c.802+2237T>A XP_005246944.1:n.802+2237T>A
XM_005246888.2:c.802+2237T>A XP_005246945.1:n.802+2237T>A
XM_005246889.2:c.802+2237T>A XP_005246946.1:n.802+2237T>A
XM_005246890.4:c.802+2237T>A XP_005246947.1:n.802+2237T>A
XM_005246891.5:c.802+2237T>A XP_005246948.1:n.802+2237T>A
XM_005246892.2:c.757+2237T>A XP_005246949.1:n.757+2237T>A
XM_005246893.3:c.*29+2237T>A XP_005246950.1:n.*29+2237T>A
XM_005246894.4:c.205+2237T>A XP_005246951.1:n.205+2237T>A
XM_005246895.3:c.*29+2237T>A XP_005246952.1:n.*29+2237T>A
XM_006712789.2:c.802+2237T>A XP_006712852.1:n.802+2237T>A
XM_006712790.4:c.802+2237T>A XP_006712853.1:n.802+2237T>A
XM_006712793.3:c.*29+2237T>A XP_006712856.1:n.*29+2237T>A
XM_011511969.2:c.367+2237T>A XP_011510271.1:n.367+2237T>A
XR_001738971.1:n.1149+2101T>A
NM_001080124.2:c.757+2237T>A NP_001073593.1:n.757+2237T>A
NM_001080125.2:c.979+2237T>A NP_001073594.1:n.979+2237T>A
NM_001372051.1:c.802+2237T>A MANE Select NP_001358980.1:n.802+2237T>A
NM_033356.4:c.757+2237T>A NP_203520.1:n.757+2237T>A
NM_033358.4:c.*29+2237T>A NP_203522.1:n.*29+2237T>A
NR_111983.2:n.1312+2101T>A
NM_001400642.1:c.934+2237T>A NP_001387571.1:n.934+2237T>A
NM_001400645.1:c.835+2237T>A NP_001387574.1:n.835+2237T>A
NM_001400648.1:c.802+2237T>A NP_001387577.1:n.802+2237T>A
NM_001400651.1:c.802+2237T>A NP_001387580.1:n.802+2237T>A
NM_001400653.1:c.802+2237T>A NP_001387582.1:n.802+2237T>A
NM_001400654.1:c.802+2237T>A NP_001387583.1:n.802+2237T>A
NM_001400655.1:c.802+2237T>A NP_001387584.1:n.802+2237T>A
NM_001400656.1:c.802+2237T>A NP_001387585.1:n.802+2237T>A
NM_001400657.1:c.802+2237T>A NP_001387586.1:n.802+2237T>A
NM_001400658.1:c.757+2237T>A NP_001387587.1:n.757+2237T>A
NM_001400659.1:c.757+2237T>A NP_001387588.1:n.757+2237T>A
NM_001400660.1:c.757+2237T>A NP_001387589.1:n.757+2237T>A
NM_001400661.1:c.757+2237T>A NP_001387590.1:n.757+2237T>A
NM_001400662.1:c.757+2237T>A NP_001387591.1:n.757+2237T>A
NM_001400663.1:c.757+2237T>A NP_001387592.1:n.757+2237T>A
NM_001400664.1:c.733+2237T>A NP_001387593.1:n.733+2237T>A
NM_001400665.1:c.728-5611T>A NP_001387594.1:n.728-5611T>A
NM_001400666.1:c.596-5611T>A NP_001387595.1:n.596-5611T>A
NM_001400667.1:c.551-5611T>A NP_001387596.1:n.551-5611T>A
NM_001400668.1:c.551-5611T>A NP_001387597.1:n.551-5611T>A
NM_001400669.1:c.493+2237T>A NP_001387598.1:n.493+2237T>A
NM_001400670.1:c.802+2237T>A NP_001387599.1:n.802+2237T>A
NM_001400671.1:c.205+2237T>A NP_001387600.1:n.205+2237T>A
NM_001400672.1:c.205+2237T>A NP_001387601.1:n.205+2237T>A
NM_001400673.1:c.205+2237T>A NP_001387602.1:n.205+2237T>A
NM_001400674.1:c.187+2237T>A NP_001387603.1:n.187+2237T>A
NM_001400675.1:c.160+2237T>A NP_001387604.1:n.160+2237T>A
NM_001400676.1:c.160+2237T>A NP_001387605.1:n.160+2237T>A
NM_001400677.1:c.160+2237T>A NP_001387606.1:n.160+2237T>A
NM_001400678.1:c.160+2237T>A NP_001387607.1:n.160+2237T>A
NM_001400680.1:c.187+2237T>A NP_001387609.1:n.187+2237T>A
NM_001400750.1:c.205+2237T>A NP_001387679.1:n.205+2237T>A
NM_001400751.1:c.160+2237T>A NP_001387680.1:n.160+2237T>A
NR_174564.1:n.891+2101T>A
NR_174565.1:n.1021+2101T>A
NR_174581.1:n.1047+2101T>A
NR_174583.1:n.1153+2101T>A
NR_174584.1:n.1066+2237T>A
NR_174585.1:n.1084+2101T>A
NR_174586.1:n.1058+2101T>A
NR_174588.1:n.1221+2101T>A
NR_174589.1:n.1016+2101T>A
NR_174590.1:n.1108+2101T>A
NR_174591.1:n.1039+2101T>A
NR_174592.1:n.1384+2101T>A
NR_174593.1:n.1182+2101T>A
NR_174594.1:n.1225+2101T>A
NR_174595.1:n.1140+2101T>A
NR_174596.1:n.977+2101T>A
NR_174598.1:n.1335+2101T>A
NR_174599.1:n.719+4252T>A
NR_174600.1:n.1247+2101T>A
NR_174601.1:n.1172+2101T>A
NR_174602.1:n.1042+2101T>A
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