Canonical Allele Identifier: CA379804282
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407105T>C , CM000673.2:g.17407105T>C GRCh38
NC_000011.9:g.17428652T>C , CM000673.1:g.17428652T>C GRCh37
NC_000011.8:g.17385228T>C NCBI36
NG_008867.1:g.74798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2514A>G
ENST00000529967.6:n.1284A>G
ENST00000532220.2:n.677A>G
ENST00000642611.2:n.3014A>G
ENST00000645004.2:n.444A>G
ENST00000682051.1:n.2961A>G
ENST00000682110.1:n.3014A>G
ENST00000682140.1:c.2942A>G ENSP00000507829.1:p.Asp981Gly
ENST00000682185.1:n.4250A>G
ENST00000682204.1:c.*1083A>G ENSP00000507094.1:n.*1083A>G
ENST00000682215.1:n.3011A>G
ENST00000682288.1:c.*1376A>G ENSP00000507506.1:n.*1376A>G
ENST00000682442.1:n.3135A>G
ENST00000682528.1:n.3091A>G
ENST00000682673.1:n.2958A>G
ENST00000682805.1:n.3011A>G
ENST00000682965.1:c.2942A>G ENSP00000508229.1:p.Asp981Gly
ENST00000683093.1:n.3113A>G
ENST00000683136.1:c.2942A>G ENSP00000507768.1:p.Asp981Gly
ENST00000683153.1:n.3170A>G
ENST00000683365.1:n.3116A>G
ENST00000683377.1:n.3014A>G
ENST00000683456.1:c.*82A>G ENSP00000508318.1:n.*82A>G
ENST00000683522.1:n.3014A>G
ENST00000683562.1:c.*1114A>G ENSP00000508265.1:n.*1114A>G
ENST00000683693.1:n.3091A>G
ENST00000683725.1:c.2945A>G ENSP00000507496.1:p.Asp982Gly
ENST00000684010.1:n.3009A>G
ENST00000684157.1:n.3014A>G
ENST00000684253.1:n.2917A>G
ENST00000684288.1:c.*1117A>G ENSP00000507143.1:n.*1117A>G
ENST00000684313.1:n.2446A>G
ENST00000684332.1:n.3087A>G
ENST00000684371.1:n.3120A>G
ENST00000684404.1:n.3057A>G
ENST00000684442.1:n.3014A>G
ENST00000684555.1:c.*1157A>G ENSP00000507705.1:n.*1157A>G
ENST00000684571.1:c.2786A>G ENSP00000506935.1:p.Asp929Gly
ENST00000684593.1:c.*2650A>G ENSP00000507005.1:n.*2650A>G
ENST00000684711.1:c.*1341A>G ENSP00000506841.1:n.*1341A>G
ENST00000302539.9:c.2948A>G ENSP00000303960.4:p.Asp983Gly
ENST00000389817.8:c.2945A>G MANE Select ENSP00000374467.4:p.Asp982Gly
ENST00000642271.1:c.2942A>G ENSP00000493749.1:p.Asp981Gly
ENST00000642579.1:c.1029A>G
ENST00000642611.1:n.2899A>G
ENST00000642902.1:c.2756-29A>G
ENST00000643260.1:c.2945A>G ENSP00000494450.1:p.Asp982Gly
ENST00000643562.1:c.*921A>G ENSP00000496124.1:n.*921A>G
ENST00000643925.1:c.1069A>G
ENST00000644447.1:c.1301A>G ENSP00000496282.1:p.Asp434Gly
ENST00000644484.1:c.*1200A>G ENSP00000493558.1:n.*1200A>G
ENST00000644542.1:c.*2650A>G ENSP00000495532.1:n.*2650A>G
ENST00000644675.1:c.*1117A>G ENSP00000494567.1:n.*1117A>G
ENST00000644757.1:c.*1230A>G ENSP00000495085.1:n.*1230A>G
ENST00000644772.1:c.3011A>G ENSP00000494321.1:p.Asp1004Gly
ENST00000645004.1:n.84A>G
ENST00000645076.1:c.2173-29A>G
ENST00000645417.1:c.111A>G
ENST00000645744.1:c.*1209A>G ENSP00000494564.1:n.*1209A>G
ENST00000645760.1:c.3220A>G
ENST00000645884.1:c.*82A>G ENSP00000495516.1:n.*82A>G
ENST00000646003.1:c.*901A>G ENSP00000495259.1:n.*901A>G
ENST00000646207.1:c.*1412A>G ENSP00000495025.1:n.*1412A>G
ENST00000646276.1:c.*1218A>G ENSP00000496070.1:n.*1218A>G
ENST00000646592.1:c.2251A>G
ENST00000646902.1:c.2942A>G ENSP00000494101.1:p.Asp981Gly
ENST00000646993.1:c.*1341A>G ENSP00000493720.1:n.*1341A>G
ENST00000647013.1:c.2951A>G ENSP00000496741.1:n.2951A>G
ENST00000647015.1:c.2696A>G ENSP00000495389.1:p.Asp899Gly
ENST00000647086.1:c.*2675A>G ENSP00000493677.1:n.*2675A>G
ENST00000647158.1:c.*1086A>G ENSP00000495744.1:n.*1086A>G
ENST00000302539.8:c.2948A>G ENSP00000303960.4:p.Asp983Gly
ENST00000389817.7:c.2945A>G ENSP00000374467.3:p.Asp982Gly
ENST00000524561.1:n.77A>G
ENST00000526921.5:n.629A>G
ENST00000527905.5:c.2815A>G ENSP00000431653.1:p.Met939Val
ENST00000529967.5:n.614A>G
NM_000352.4:c.2945A>G NP_000343.2:p.Asp982Gly
NM_001287174.1:c.2948A>G NP_001274103.1:p.Asp983Gly
XM_011520331.1:c.2945A>G XP_011518633.1:p.Asp982Gly
XM_011520332.1:c.2948A>G XP_011518634.1:p.Asp983Gly
XM_011520333.1:c.1445A>G XP_011518635.1:p.Asp482Gly
XR_930890.1:n.3011A>G
XR_930891.1:n.3011A>G
XR_930892.1:n.2911A>G
XR_930893.1:n.2908A>G
NM_001351295.1:c.3011A>G NP_001338224.1:p.Asp1004Gly
NM_001351296.1:c.2945A>G NP_001338225.1:p.Asp982Gly
NM_001351297.1:c.2942A>G NP_001338226.1:p.Asp981Gly
NR_147094.1:n.3094A>G
XM_017018197.2:c.3014A>G XP_016873686.1:p.Asp1005Gly
XM_017018199.1:c.3011A>G XP_016873688.1:p.Asp1004Gly
XM_017018201.2:c.3014A>G XP_016873690.1:p.Asp1005Gly
XM_017018202.1:c.1511A>G XP_016873691.1:p.Asp504Gly
XM_017018204.1:c.902A>G XP_016873693.1:p.Asp301Gly
XM_024448668.1:c.1313A>G XP_024304436.1:p.Asp438Gly
XR_001747945.2:n.3086A>G
XR_001747946.2:n.3017A>G
XR_002957189.1:n.3166A>G
NM_000352.6:c.2945A>G MANE Select NP_000343.2:p.Asp982Gly
NM_001287174.2:c.2948A>G NP_001274103.1:p.Asp983Gly
NM_001351295.2:c.3011A>G NP_001338224.1:p.Asp1004Gly
NM_001351296.2:c.2945A>G NP_001338225.1:p.Asp982Gly
NM_001351297.2:c.2942A>G NP_001338226.1:p.Asp981Gly
NR_147094.2:n.3094A>G
NM_001287174.3:c.2948A>G NP_001274103.1:p.Asp983Gly