Canonical Allele Identifier: CA379790920
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs886039301

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397007T>C , CM000673.2:g.17397007T>C GRCh38
NC_000011.9:g.17418554T>C , CM000673.1:g.17418554T>C GRCh37
NC_000011.8:g.17375130T>C NCBI36
NG_008867.1:g.84896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3629A>G
ENST00000528374.2:c.619A>G
ENST00000529967.6:n.2367A>G
ENST00000532220.2:n.2276A>G
ENST00000642611.2:n.4243A>G
ENST00000644057.2:n.471A>G
ENST00000645004.2:n.1527A>G
ENST00000682051.1:n.4190A>G
ENST00000682110.1:n.4243A>G
ENST00000682140.1:c.3985+186A>G ENSP00000507829.1:n.3985+186A>G
ENST00000682185.1:n.5333A>G
ENST00000682204.1:c.*2166A>G ENSP00000507094.1:n.*2166A>G
ENST00000682215.1:n.4610A>G
ENST00000682288.1:c.*2459A>G ENSP00000507506.1:n.*2459A>G
ENST00000682442.1:n.4463A>G
ENST00000682528.1:n.4320A>G
ENST00000682673.1:n.4187A>G
ENST00000682805.1:n.4610A>G
ENST00000682965.1:c.*450A>G ENSP00000508229.1:n.*450A>G
ENST00000683093.1:n.4342A>G
ENST00000683136.1:c.3911A>G ENSP00000507768.1:p.Lys1304Arg
ENST00000683153.1:n.4285A>G
ENST00000683365.1:n.4345A>G
ENST00000683377.1:n.4243A>G
ENST00000683456.1:c.*1165A>G ENSP00000508318.1:n.*1165A>G
ENST00000683522.1:n.4243A>G
ENST00000683562.1:c.*2197A>G ENSP00000508265.1:n.*2197A>G
ENST00000683693.1:n.4690A>G
ENST00000683725.1:c.4028A>G ENSP00000507496.1:p.Lys1343Arg
ENST00000684010.1:n.4238A>G
ENST00000684157.1:n.4243A>G
ENST00000684253.1:n.4146A>G
ENST00000684288.1:c.*2200A>G ENSP00000507143.1:n.*2200A>G
ENST00000684313.1:n.3675A>G
ENST00000684332.1:n.4316A>G
ENST00000684371.1:n.4349A>G
ENST00000684404.1:n.4286A>G
ENST00000684442.1:n.4467A>G
ENST00000684555.1:c.*2240A>G ENSP00000507705.1:n.*2240A>G
ENST00000684571.1:c.3869A>G ENSP00000506935.1:p.Lys1290Arg
ENST00000684593.1:c.*3733A>G ENSP00000507005.1:n.*3733A>G
ENST00000684711.1:c.*2424A>G ENSP00000506841.1:n.*2424A>G
ENST00000302539.9:c.4031A>G ENSP00000303960.4:p.Lys1344Arg
ENST00000389817.8:c.4028A>G MANE Select ENSP00000374467.4:p.Lys1343Arg
ENST00000642271.1:c.4025A>G ENSP00000493749.1:p.Lys1342Arg
ENST00000642579.1:c.2082A>G
ENST00000642611.1:n.4128A>G
ENST00000642902.1:c.3810A>G
ENST00000643260.1:c.4028A>G ENSP00000494450.1:p.Lys1343Arg
ENST00000643562.1:c.*2150A>G ENSP00000496124.1:n.*2150A>G
ENST00000643925.1:c.2668A>G
ENST00000644057.1:n.105A>G
ENST00000644484.1:c.*2429A>G ENSP00000493558.1:n.*2429A>G
ENST00000644675.1:c.*2200A>G ENSP00000494567.1:n.*2200A>G
ENST00000644757.1:c.*2459A>G ENSP00000495085.1:n.*2459A>G
ENST00000644772.1:c.4094A>G ENSP00000494321.1:p.Lys1365Arg
ENST00000645004.1:n.1683A>G
ENST00000645076.1:c.3227A>G
ENST00000645417.1:c.1216A>G
ENST00000645744.1:c.*2808A>G ENSP00000494564.1:n.*2808A>G
ENST00000645760.1:c.4449A>G
ENST00000645884.1:c.*1311A>G ENSP00000495516.1:n.*1311A>G
ENST00000646003.1:c.*2130A>G ENSP00000495259.1:n.*2130A>G
ENST00000646207.1:c.*2865A>G ENSP00000495025.1:n.*2865A>G
ENST00000646276.1:c.*2447A>G ENSP00000496070.1:n.*2447A>G
ENST00000646592.1:c.3334A>G
ENST00000646902.1:c.3995A>G ENSP00000494101.1:p.Lys1332Arg
ENST00000646993.1:c.*2570A>G ENSP00000493720.1:n.*2570A>G
ENST00000647013.1:c.4034A>G ENSP00000496741.1:n.4034A>G
ENST00000647015.1:c.3779A>G ENSP00000495389.1:p.Lys1260Arg
ENST00000647086.1:c.*3614A>G ENSP00000493677.1:n.*3614A>G
ENST00000647158.1:c.*2315A>G ENSP00000495744.1:n.*2315A>G
ENST00000302539.8:c.4031A>G ENSP00000303960.4:p.Lys1344Arg
ENST00000389817.7:c.4028A>G ENSP00000374467.3:p.Lys1343Arg
ENST00000527905.5:c.*1050A>G ENSP00000431653.1:n.*1050A>G
ENST00000528374.1:c.510A>G
ENST00000531137.1:n.593A>G
ENST00000531891.1:c.366A>G
ENST00000532220.1:n.502A>G
NM_000352.4:c.4028A>G NP_000343.2:p.Lys1343Arg
NM_001287174.1:c.4031A>G NP_001274103.1:p.Lys1344Arg
XM_011520331.1:c.4028A>G XP_011518633.1:p.Lys1343Arg
XM_011520332.1:c.4031A>G XP_011518634.1:p.Lys1344Arg
XM_011520333.1:c.2528A>G XP_011518635.1:p.Lys843Arg
XR_930890.1:n.4094A>G
NM_001351295.1:c.4094A>G NP_001338224.1:p.Lys1365Arg
NM_001351296.1:c.4028A>G NP_001338225.1:p.Lys1343Arg
NM_001351297.1:c.4025A>G NP_001338226.1:p.Lys1342Arg
NR_147094.1:n.4323A>G
XM_017018197.2:c.4097A>G XP_016873686.1:p.Lys1366Arg
XM_017018199.1:c.4094A>G XP_016873688.1:p.Lys1365Arg
XM_017018201.2:c.4097A>G XP_016873690.1:p.Lys1366Arg
XM_017018202.1:c.2594A>G XP_016873691.1:p.Lys865Arg
XM_017018204.1:c.1985A>G XP_016873693.1:p.Lys662Arg
XM_024448668.1:c.2396A>G XP_024304436.1:p.Lys799Arg
XR_001747945.2:n.4169A>G
XR_001747946.2:n.4100A>G
XR_002957189.1:n.4765A>G
NM_000352.6:c.4028A>G MANE Select NP_000343.2:p.Lys1343Arg
NM_001287174.2:c.4031A>G NP_001274103.1:p.Lys1344Arg
NM_001351295.2:c.4094A>G NP_001338224.1:p.Lys1365Arg
NM_001351296.2:c.4028A>G NP_001338225.1:p.Lys1343Arg
NM_001351297.2:c.4025A>G NP_001338226.1:p.Lys1342Arg
NR_147094.2:n.4323A>G
NM_001287174.3:c.4031A>G NP_001274103.1:p.Lys1344Arg