Canonical Allele Identifier: CA379804136
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407082G>C , CM000673.2:g.17407082G>C GRCh38
NC_000011.9:g.17428629G>C , CM000673.1:g.17428629G>C GRCh37
NC_000011.8:g.17385205G>C NCBI36
NG_008867.1:g.74821C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2537C>G
ENST00000529967.6:n.1307C>G
ENST00000532220.2:n.700C>G
ENST00000642611.2:n.3037C>G
ENST00000645004.2:n.467C>G
ENST00000682051.1:n.2984C>G
ENST00000682110.1:n.3037C>G
ENST00000682140.1:c.2965C>G ENSP00000507829.1:p.His989Asp
ENST00000682185.1:n.4273C>G
ENST00000682204.1:c.*1106C>G ENSP00000507094.1:n.*1106C>G
ENST00000682215.1:n.3034C>G
ENST00000682288.1:c.*1399C>G ENSP00000507506.1:n.*1399C>G
ENST00000682442.1:n.3158C>G
ENST00000682528.1:n.3114C>G
ENST00000682673.1:n.2981C>G
ENST00000682805.1:n.3034C>G
ENST00000682965.1:c.2965C>G ENSP00000508229.1:p.His989Asp
ENST00000683093.1:n.3136C>G
ENST00000683136.1:c.2965C>G ENSP00000507768.1:p.His989Asp
ENST00000683153.1:n.3193C>G
ENST00000683365.1:n.3139C>G
ENST00000683377.1:n.3037C>G
ENST00000683456.1:c.*105C>G ENSP00000508318.1:n.*105C>G
ENST00000683522.1:n.3037C>G
ENST00000683562.1:c.*1137C>G ENSP00000508265.1:n.*1137C>G
ENST00000683693.1:n.3114C>G
ENST00000683725.1:c.2968C>G ENSP00000507496.1:p.His990Asp
ENST00000684010.1:n.3032C>G
ENST00000684157.1:n.3037C>G
ENST00000684253.1:n.2940C>G
ENST00000684288.1:c.*1140C>G ENSP00000507143.1:n.*1140C>G
ENST00000684313.1:n.2469C>G
ENST00000684332.1:n.3110C>G
ENST00000684371.1:n.3143C>G
ENST00000684404.1:n.3080C>G
ENST00000684442.1:n.3037C>G
ENST00000684555.1:c.*1180C>G ENSP00000507705.1:n.*1180C>G
ENST00000684571.1:c.2809C>G ENSP00000506935.1:p.His937Asp
ENST00000684593.1:c.*2673C>G ENSP00000507005.1:n.*2673C>G
ENST00000684711.1:c.*1364C>G ENSP00000506841.1:n.*1364C>G
ENST00000302539.9:c.2971C>G ENSP00000303960.4:p.His991Asp
ENST00000389817.8:c.2968C>G MANE Select ENSP00000374467.4:p.His990Asp
ENST00000642271.1:c.2965C>G ENSP00000493749.1:p.His989Asp
ENST00000642579.1:c.1052C>G
ENST00000642611.1:n.2922C>G
ENST00000642902.1:c.2756-6C>G
ENST00000643260.1:c.2968C>G ENSP00000494450.1:p.His990Asp
ENST00000643562.1:c.*944C>G ENSP00000496124.1:n.*944C>G
ENST00000643925.1:c.1092C>G
ENST00000644447.1:c.1324C>G ENSP00000496282.1:p.His442Asp
ENST00000644484.1:c.*1223C>G ENSP00000493558.1:n.*1223C>G
ENST00000644542.1:c.*2673C>G ENSP00000495532.1:n.*2673C>G
ENST00000644675.1:c.*1140C>G ENSP00000494567.1:n.*1140C>G
ENST00000644757.1:c.*1253C>G ENSP00000495085.1:n.*1253C>G
ENST00000644772.1:c.3034C>G ENSP00000494321.1:p.His1012Asp
ENST00000645004.1:n.107C>G
ENST00000645076.1:c.2173-6C>G
ENST00000645417.1:c.134C>G
ENST00000645744.1:c.*1232C>G ENSP00000494564.1:n.*1232C>G
ENST00000645760.1:c.3243C>G
ENST00000645884.1:c.*105C>G ENSP00000495516.1:n.*105C>G
ENST00000646003.1:c.*924C>G ENSP00000495259.1:n.*924C>G
ENST00000646207.1:c.*1435C>G ENSP00000495025.1:n.*1435C>G
ENST00000646276.1:c.*1241C>G ENSP00000496070.1:n.*1241C>G
ENST00000646592.1:c.2274C>G
ENST00000646902.1:c.2965C>G ENSP00000494101.1:p.His989Asp
ENST00000646993.1:c.*1364C>G ENSP00000493720.1:n.*1364C>G
ENST00000647013.1:c.2974C>G ENSP00000496741.1:n.2974C>G
ENST00000647015.1:c.2719C>G ENSP00000495389.1:p.His907Asp
ENST00000647086.1:c.*2698C>G ENSP00000493677.1:n.*2698C>G
ENST00000647158.1:c.*1109C>G ENSP00000495744.1:n.*1109C>G
ENST00000302539.8:c.2971C>G ENSP00000303960.4:p.His991Asp
ENST00000389817.7:c.2968C>G ENSP00000374467.3:p.His990Asp
ENST00000524561.1:n.100C>G
ENST00000526921.5:n.652C>G
ENST00000527905.5:c.2838C>G ENSP00000431653.1:p.Cys946Trp
ENST00000529967.5:n.637C>G
NM_000352.4:c.2968C>G NP_000343.2:p.His990Asp
NM_001287174.1:c.2971C>G NP_001274103.1:p.His991Asp
XM_011520331.1:c.2968C>G XP_011518633.1:p.His990Asp
XM_011520332.1:c.2971C>G XP_011518634.1:p.His991Asp
XM_011520333.1:c.1468C>G XP_011518635.1:p.His490Asp
XR_930890.1:n.3034C>G
XR_930891.1:n.3034C>G
XR_930892.1:n.2934C>G
XR_930893.1:n.2931C>G
NM_001351295.1:c.3034C>G NP_001338224.1:p.His1012Asp
NM_001351296.1:c.2968C>G NP_001338225.1:p.His990Asp
NM_001351297.1:c.2965C>G NP_001338226.1:p.His989Asp
NR_147094.1:n.3117C>G
XM_017018197.2:c.3037C>G XP_016873686.1:p.His1013Asp
XM_017018199.1:c.3034C>G XP_016873688.1:p.His1012Asp
XM_017018201.2:c.3037C>G XP_016873690.1:p.His1013Asp
XM_017018202.1:c.1534C>G XP_016873691.1:p.His512Asp
XM_017018204.1:c.925C>G XP_016873693.1:p.His309Asp
XM_024448668.1:c.1336C>G XP_024304436.1:p.His446Asp
XR_001747945.2:n.3109C>G
XR_001747946.2:n.3040C>G
XR_002957189.1:n.3189C>G
NM_000352.6:c.2968C>G MANE Select NP_000343.2:p.His990Asp
NM_001287174.2:c.2971C>G NP_001274103.1:p.His991Asp
NM_001351295.2:c.3034C>G NP_001338224.1:p.His1012Asp
NM_001351296.2:c.2968C>G NP_001338225.1:p.His990Asp
NM_001351297.2:c.2965C>G NP_001338226.1:p.His989Asp
NR_147094.2:n.3117C>G
NM_001287174.3:c.2971C>G NP_001274103.1:p.His991Asp