Canonical Allele Identifier: CA379802973
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406775T>C , CM000673.2:g.17406775T>C GRCh38
NC_000011.9:g.17428322T>C , CM000673.1:g.17428322T>C GRCh37
NC_000011.8:g.17384898T>C NCBI36
NG_008867.1:g.75128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2745A>G
ENST00000529967.6:n.1515A>G
ENST00000532220.2:n.908A>G
ENST00000642611.2:n.3245A>G
ENST00000645004.2:n.675A>G
ENST00000682051.1:n.3192A>G
ENST00000682110.1:n.3245A>G
ENST00000682140.1:c.3173A>G ENSP00000507829.1:p.Asp1058Gly
ENST00000682185.1:n.4481A>G
ENST00000682204.1:c.*1314A>G ENSP00000507094.1:n.*1314A>G
ENST00000682215.1:n.3242A>G
ENST00000682288.1:c.*1607A>G ENSP00000507506.1:n.*1607A>G
ENST00000682442.1:n.3465A>G
ENST00000682528.1:n.3322A>G
ENST00000682673.1:n.3189A>G
ENST00000682805.1:n.3242A>G
ENST00000682965.1:c.3173A>G ENSP00000508229.1:p.Asp1058Gly
ENST00000683093.1:n.3344A>G
ENST00000683136.1:c.3173A>G ENSP00000507768.1:p.Asp1058Gly
ENST00000683153.1:n.3401A>G
ENST00000683365.1:n.3347A>G
ENST00000683377.1:n.3245A>G
ENST00000683456.1:c.*313A>G ENSP00000508318.1:n.*313A>G
ENST00000683522.1:n.3245A>G
ENST00000683562.1:c.*1345A>G ENSP00000508265.1:n.*1345A>G
ENST00000683693.1:n.3322A>G
ENST00000683725.1:c.3176A>G ENSP00000507496.1:p.Asp1059Gly
ENST00000684010.1:n.3240A>G
ENST00000684157.1:n.3245A>G
ENST00000684253.1:n.3148A>G
ENST00000684288.1:c.*1348A>G ENSP00000507143.1:n.*1348A>G
ENST00000684313.1:n.2677A>G
ENST00000684332.1:n.3318A>G
ENST00000684371.1:n.3351A>G
ENST00000684404.1:n.3288A>G
ENST00000684442.1:n.3245A>G
ENST00000684555.1:c.*1388A>G ENSP00000507705.1:n.*1388A>G
ENST00000684571.1:c.3017A>G ENSP00000506935.1:p.Asp1006Gly
ENST00000684593.1:c.*2881A>G ENSP00000507005.1:n.*2881A>G
ENST00000684711.1:c.*1572A>G ENSP00000506841.1:n.*1572A>G
ENST00000302539.9:c.3179A>G ENSP00000303960.4:p.Asp1060Gly
ENST00000389817.8:c.3176A>G MANE Select ENSP00000374467.4:p.Asp1059Gly
ENST00000642271.1:c.3173A>G ENSP00000493749.1:p.Asp1058Gly
ENST00000642579.1:c.1260A>G
ENST00000642611.1:n.3130A>G
ENST00000642902.1:c.2958A>G
ENST00000643260.1:c.3176A>G ENSP00000494450.1:p.Asp1059Gly
ENST00000643562.1:c.*1152A>G ENSP00000496124.1:n.*1152A>G
ENST00000643925.1:c.1300A>G
ENST00000644447.1:c.1532A>G ENSP00000496282.1:p.Asp511Gly
ENST00000644484.1:c.*1431A>G ENSP00000493558.1:n.*1431A>G
ENST00000644542.1:c.*2980A>G ENSP00000495532.1:n.*2980A>G
ENST00000644675.1:c.*1348A>G ENSP00000494567.1:n.*1348A>G
ENST00000644757.1:c.*1461A>G ENSP00000495085.1:n.*1461A>G
ENST00000644772.1:c.3242A>G ENSP00000494321.1:p.Asp1081Gly
ENST00000645004.1:n.315A>G
ENST00000645076.1:c.2375A>G
ENST00000645417.1:c.342A>G
ENST00000645744.1:c.*1440A>G ENSP00000494564.1:n.*1440A>G
ENST00000645760.1:c.3451A>G
ENST00000645884.1:c.*313A>G ENSP00000495516.1:n.*313A>G
ENST00000646003.1:c.*1132A>G ENSP00000495259.1:n.*1132A>G
ENST00000646207.1:c.*1643A>G ENSP00000495025.1:n.*1643A>G
ENST00000646276.1:c.*1449A>G ENSP00000496070.1:n.*1449A>G
ENST00000646592.1:c.2482A>G
ENST00000646902.1:c.3173A>G ENSP00000494101.1:p.Asp1058Gly
ENST00000646993.1:c.*1572A>G ENSP00000493720.1:n.*1572A>G
ENST00000647013.1:c.3182A>G ENSP00000496741.1:n.3182A>G
ENST00000647015.1:c.2927A>G ENSP00000495389.1:p.Asp976Gly
ENST00000647086.1:c.*2906A>G ENSP00000493677.1:n.*2906A>G
ENST00000647158.1:c.*1317A>G ENSP00000495744.1:n.*1317A>G
ENST00000302539.8:c.3179A>G ENSP00000303960.4:p.Asp1060Gly
ENST00000389817.7:c.3176A>G ENSP00000374467.3:p.Asp1059Gly
ENST00000524561.1:n.308A>G
ENST00000526921.5:n.860A>G
ENST00000527905.5:c.*52A>G ENSP00000431653.1:n.*52A>G
NM_000352.4:c.3176A>G NP_000343.2:p.Asp1059Gly
NM_001287174.1:c.3179A>G NP_001274103.1:p.Asp1060Gly
XM_011520331.1:c.3176A>G XP_011518633.1:p.Asp1059Gly
XM_011520332.1:c.3179A>G XP_011518634.1:p.Asp1060Gly
XM_011520333.1:c.1676A>G XP_011518635.1:p.Asp559Gly
XR_930890.1:n.3242A>G
XR_930891.1:n.3242A>G
XR_930892.1:n.3142A>G
XR_930893.1:n.3139A>G
NM_001351295.1:c.3242A>G NP_001338224.1:p.Asp1081Gly
NM_001351296.1:c.3176A>G NP_001338225.1:p.Asp1059Gly
NM_001351297.1:c.3173A>G NP_001338226.1:p.Asp1058Gly
NR_147094.1:n.3325A>G
XM_017018197.2:c.3245A>G XP_016873686.1:p.Asp1082Gly
XM_017018199.1:c.3242A>G XP_016873688.1:p.Asp1081Gly
XM_017018201.2:c.3245A>G XP_016873690.1:p.Asp1082Gly
XM_017018202.1:c.1742A>G XP_016873691.1:p.Asp581Gly
XM_017018204.1:c.1133A>G XP_016873693.1:p.Asp378Gly
XM_024448668.1:c.1544A>G XP_024304436.1:p.Asp515Gly
XR_001747945.2:n.3317A>G
XR_001747946.2:n.3248A>G
XR_002957189.1:n.3397A>G
NM_000352.6:c.3176A>G MANE Select NP_000343.2:p.Asp1059Gly
NM_001287174.2:c.3179A>G NP_001274103.1:p.Asp1060Gly
NM_001351295.2:c.3242A>G NP_001338224.1:p.Asp1081Gly
NM_001351296.2:c.3176A>G NP_001338225.1:p.Asp1059Gly
NM_001351297.2:c.3173A>G NP_001338226.1:p.Asp1058Gly
NR_147094.2:n.3325A>G
NM_001287174.3:c.3179A>G NP_001274103.1:p.Asp1060Gly