Canonical Allele Identifier: CA379804085

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407070C>A , CM000673.2:g.17407070C>A	GRCh38
NC_000011.9:g.17428617C>A , CM000673.1:g.17428617C>A	GRCh37
NC_000011.8:g.17385193C>A	NCBI36
NG_008867.1:g.74833G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2980G>T MANE Select	NP_000343.2:p.Glu994Ter
ENST00000389817.8:c.2980G>T MANE Select	ENSP00000374467.4:p.Glu994Ter
NM_000352.4:c.2980G>T	NP_000343.2:p.Glu994Ter
NM_001287174.1:c.2983G>T	NP_001274103.1:p.Glu995Ter
NM_001287174.2:c.2983G>T	NP_001274103.1:p.Glu995Ter
NM_001287174.3:c.2983G>T	NP_001274103.1:p.Glu995Ter
NM_001351295.1:c.3046G>T	NP_001338224.1:p.Glu1016Ter
NM_001351295.2:c.3046G>T	NP_001338224.1:p.Glu1016Ter
NM_001351296.1:c.2980G>T	NP_001338225.1:p.Glu994Ter
NM_001351296.2:c.2980G>T	NP_001338225.1:p.Glu994Ter
NM_001351297.1:c.2977G>T	NP_001338226.1:p.Glu993Ter
NM_001351297.2:c.2977G>T	NP_001338226.1:p.Glu993Ter
NR_147094.1:n.3129G>T
NR_147094.2:n.3129G>T
ENST00000302539.8:c.2983G>T	ENSP00000303960.4:p.Glu995Ter
ENST00000302539.9:c.2983G>T	ENSP00000303960.4:p.Glu995Ter
ENST00000389817.7:c.2980G>T	ENSP00000374467.3:p.Glu994Ter
ENST00000524561.1:n.112G>T
ENST00000524561.2:n.2549G>T
ENST00000526921.5:n.664G>T
ENST00000527905.5:c.2850G>T	ENSP00000431653.1:p.Leu950=
ENST00000529967.5:n.649G>T
ENST00000529967.6:n.1319G>T
ENST00000532220.2:n.712G>T
ENST00000642271.1:c.2977G>T	ENSP00000493749.1:p.Glu993Ter
ENST00000642579.1:c.1064G>T
ENST00000642611.1:n.2934G>T
ENST00000642611.2:n.3049G>T
ENST00000642902.1:c.2762G>T
ENST00000643260.1:c.2980G>T	ENSP00000494450.1:p.Glu994Ter
ENST00000643562.1:c.*956G>T	ENSP00000496124.1:n.*956G>T
ENST00000643925.1:c.1104G>T
ENST00000644447.1:c.1336G>T	ENSP00000496282.1:p.Glu446Ter
ENST00000644484.1:c.*1235G>T	ENSP00000493558.1:n.*1235G>T
ENST00000644542.1:c.*2685G>T	ENSP00000495532.1:n.*2685G>T
ENST00000644675.1:c.*1152G>T	ENSP00000494567.1:n.*1152G>T
ENST00000644757.1:c.*1265G>T	ENSP00000495085.1:n.*1265G>T
ENST00000644772.1:c.3046G>T	ENSP00000494321.1:p.Glu1016Ter
ENST00000645004.1:n.119G>T
ENST00000645004.2:n.479G>T
ENST00000645076.1:c.2179G>T
ENST00000645417.1:c.146G>T
ENST00000645744.1:c.*1244G>T	ENSP00000494564.1:n.*1244G>T
ENST00000645760.1:c.3255G>T
ENST00000645884.1:c.*117G>T	ENSP00000495516.1:n.*117G>T
ENST00000646003.1:c.*936G>T	ENSP00000495259.1:n.*936G>T
ENST00000646207.1:c.*1447G>T	ENSP00000495025.1:n.*1447G>T
ENST00000646276.1:c.*1253G>T	ENSP00000496070.1:n.*1253G>T
ENST00000646592.1:c.2286G>T
ENST00000646902.1:c.2977G>T	ENSP00000494101.1:p.Glu993Ter
ENST00000646993.1:c.*1376G>T	ENSP00000493720.1:n.*1376G>T
ENST00000647013.1:c.2986G>T	ENSP00000496741.1:n.2986G>T
ENST00000647015.1:c.2731G>T	ENSP00000495389.1:p.Glu911Ter
ENST00000647086.1:c.*2710G>T	ENSP00000493677.1:n.*2710G>T
ENST00000647158.1:c.*1121G>T	ENSP00000495744.1:n.*1121G>T
ENST00000682051.1:n.2996G>T
ENST00000682110.1:n.3049G>T
ENST00000682140.1:c.2977G>T	ENSP00000507829.1:p.Glu993Ter
ENST00000682185.1:n.4285G>T
ENST00000682204.1:c.*1118G>T	ENSP00000507094.1:n.*1118G>T
ENST00000682215.1:n.3046G>T
ENST00000682288.1:c.*1411G>T	ENSP00000507506.1:n.*1411G>T
ENST00000682442.1:n.3170G>T
ENST00000682528.1:n.3126G>T
ENST00000682673.1:n.2993G>T
ENST00000682805.1:n.3046G>T
ENST00000682965.1:c.2977G>T	ENSP00000508229.1:p.Glu993Ter
ENST00000683093.1:n.3148G>T
ENST00000683136.1:c.2977G>T	ENSP00000507768.1:p.Glu993Ter
ENST00000683153.1:n.3205G>T
ENST00000683365.1:n.3151G>T
ENST00000683377.1:n.3049G>T
ENST00000683456.1:c.*117G>T	ENSP00000508318.1:n.*117G>T
ENST00000683522.1:n.3049G>T
ENST00000683562.1:c.*1149G>T	ENSP00000508265.1:n.*1149G>T
ENST00000683693.1:n.3126G>T
ENST00000683725.1:c.2980G>T	ENSP00000507496.1:p.Glu994Ter
ENST00000684010.1:n.3044G>T
ENST00000684157.1:n.3049G>T
ENST00000684253.1:n.2952G>T
ENST00000684288.1:c.*1152G>T	ENSP00000507143.1:n.*1152G>T
ENST00000684313.1:n.2481G>T
ENST00000684332.1:n.3122G>T
ENST00000684371.1:n.3155G>T
ENST00000684404.1:n.3092G>T
ENST00000684442.1:n.3049G>T
ENST00000684555.1:c.*1192G>T	ENSP00000507705.1:n.*1192G>T
ENST00000684571.1:c.2821G>T	ENSP00000506935.1:p.Glu941Ter
ENST00000684593.1:c.*2685G>T	ENSP00000507005.1:n.*2685G>T
ENST00000684711.1:c.*1376G>T	ENSP00000506841.1:n.*1376G>T
XM_011520331.1:c.2980G>T	XP_011518633.1:p.Glu994Ter
XM_011520332.1:c.2983G>T	XP_011518634.1:p.Glu995Ter
XM_011520333.1:c.1480G>T	XP_011518635.1:p.Glu494Ter
XM_017018197.2:c.3049G>T	XP_016873686.1:p.Glu1017Ter
XM_017018199.1:c.3046G>T	XP_016873688.1:p.Glu1016Ter
XM_017018201.2:c.3049G>T	XP_016873690.1:p.Glu1017Ter
XM_017018202.1:c.1546G>T	XP_016873691.1:p.Glu516Ter
XM_017018204.1:c.937G>T	XP_016873693.1:p.Glu313Ter
XM_024448668.1:c.1348G>T	XP_024304436.1:p.Glu450Ter
XR_001747945.2:n.3121G>T
XR_001747946.2:n.3052G>T
XR_002957189.1:n.3201G>T
XR_930890.1:n.3046G>T
XR_930891.1:n.3046G>T
XR_930892.1:n.2946G>T
XR_930893.1:n.2943G>T