Canonical Allele Identifier: CA1955131325
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17412695G= , CM000673.2:g.17412695G= GRCh38
NC_000011.9:g.17434242G= , CM000673.1:g.17434242G= GRCh37
NC_000011.8:g.17390818G= NCBI36
NG_008867.1:g.69208C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2196C=
ENST00000529967.6:n.786C=
ENST00000642611.2:n.2596C=
ENST00000682051.1:n.2543C=
ENST00000682110.1:n.2596C=
ENST00000682140.1:c.2524C= ENSP00000507829.1:p.Leu842=
ENST00000682185.1:n.3832C=
ENST00000682204.1:c.*665C= ENSP00000507094.1:n.*665C=
ENST00000682215.1:n.2593C=
ENST00000682288.1:c.*958C= ENSP00000507506.1:n.*958C=
ENST00000682442.1:n.2717C=
ENST00000682528.1:n.2593C=
ENST00000682673.1:n.2540C=
ENST00000682805.1:n.2593C=
ENST00000682965.1:c.2524C= ENSP00000508229.1:p.Leu842=
ENST00000683093.1:n.2695C=
ENST00000683136.1:c.2524C= ENSP00000507768.1:p.Leu842=
ENST00000683153.1:n.2752C=
ENST00000683365.1:n.2698C=
ENST00000683377.1:n.2596C=
ENST00000683456.1:c.2527C= ENSP00000508318.1:p.Leu843=
ENST00000683522.1:n.2596C=
ENST00000683562.1:c.*696C= ENSP00000508265.1:n.*696C=
ENST00000683693.1:n.2593C=
ENST00000683725.1:c.2527C= ENSP00000507496.1:p.Leu843=
ENST00000684010.1:n.2511C=
ENST00000684157.1:n.2596C=
ENST00000684253.1:n.2499C=
ENST00000684288.1:c.*699C= ENSP00000507143.1:n.*699C=
ENST00000684313.1:n.2028C=
ENST00000684332.1:n.2669C=
ENST00000684371.1:n.2702C=
ENST00000684404.1:n.2593C=
ENST00000684442.1:n.2596C=
ENST00000684555.1:c.*739C= ENSP00000507705.1:n.*739C=
ENST00000684571.1:c.2368C= ENSP00000506935.1:p.Leu790=
ENST00000684593.1:c.*2232C= ENSP00000507005.1:n.*2232C=
ENST00000684711.1:c.*923C= ENSP00000506841.1:n.*923C=
ENST00000302539.9:c.2530C= ENSP00000303960.4:p.Leu844=
ENST00000389817.8:c.2527C= MANE Select ENSP00000374467.4:p.Leu843=
ENST00000642271.1:c.2524C= ENSP00000493749.1:p.Leu842=
ENST00000642579.1:c.611C=
ENST00000642611.1:n.2481C=
ENST00000642902.1:c.2362C=
ENST00000643260.1:c.2527C= ENSP00000494450.1:p.Leu843=
ENST00000643562.1:c.*503C= ENSP00000496124.1:n.*503C=
ENST00000643925.1:c.571C=
ENST00000644447.1:c.883C= ENSP00000496282.1:p.Leu295=
ENST00000644472.1:c.*888C= ENSP00000495378.1:n.*888C=
ENST00000644484.1:c.*736C= ENSP00000493558.1:n.*736C=
ENST00000644542.1:c.*2232C= ENSP00000495532.1:n.*2232C=
ENST00000644675.1:c.*699C= ENSP00000494567.1:n.*699C=
ENST00000644757.1:c.*832C= ENSP00000495085.1:n.*832C=
ENST00000644772.1:c.2593C= ENSP00000494321.1:p.Leu865=
ENST00000645076.1:c.1779C=
ENST00000645744.1:c.*891C= ENSP00000494564.1:n.*891C=
ENST00000645760.1:c.2802C=
ENST00000645884.1:c.2527C= ENSP00000495516.1:p.Leu843=
ENST00000646003.1:c.*583C= ENSP00000495259.1:n.*583C=
ENST00000646207.1:c.*891C= ENSP00000495025.1:n.*891C=
ENST00000646276.1:c.*800C= ENSP00000496070.1:n.*800C=
ENST00000646592.1:c.1753C=
ENST00000646902.1:c.2524C= ENSP00000494101.1:p.Leu842=
ENST00000646993.1:c.*923C= ENSP00000493720.1:n.*923C=
ENST00000647013.1:c.2533C= ENSP00000496741.1:n.2533C=
ENST00000647015.1:c.2278C= ENSP00000495389.1:p.Leu760=
ENST00000647086.1:c.*2257C= ENSP00000493677.1:n.*2257C=
ENST00000647158.1:c.*668C= ENSP00000495744.1:n.*668C=
ENST00000302539.8:c.2530C= ENSP00000303960.4:p.Leu844=
ENST00000389817.7:c.2527C= ENSP00000374467.3:p.Leu843=
ENST00000526921.5:n.211C=
ENST00000527905.5:c.2497C= ENSP00000431653.1:p.Leu833=
ENST00000529967.5:n.196C=
ENST00000530147.5:n.110C=
ENST00000531911.1:n.641C=
NM_000352.4:c.2527C= NP_000343.2:p.Leu843=
NM_001287174.1:c.2530C= NP_001274103.1:p.Leu844=
XM_011520331.1:c.2527C= XP_011518633.1:p.Leu843=
XM_011520332.1:c.2530C= XP_011518634.1:p.Leu844=
XM_011520333.1:c.1027C= XP_011518635.1:p.Leu343=
XM_011520334.1:c.2530C= XP_011518636.1:p.Leu844=
XR_930890.1:n.2593C=
XR_930891.1:n.2593C=
XR_930892.1:n.2593C=
XR_930893.1:n.2590C=
NM_001351295.1:c.2593C= NP_001338224.1:p.Leu865=
NM_001351296.1:c.2527C= NP_001338225.1:p.Leu843=
NM_001351297.1:c.2524C= NP_001338226.1:p.Leu842=
NR_147094.1:n.2596C=
XM_017018197.2:c.2596C= XP_016873686.1:p.Leu866=
XM_017018199.1:c.2593C= XP_016873688.1:p.Leu865=
XM_017018201.2:c.2596C= XP_016873690.1:p.Leu866=
XM_017018202.1:c.1093C= XP_016873691.1:p.Leu365=
XM_017018204.1:c.484C= XP_016873693.1:p.Leu162=
XM_024448668.1:c.895C= XP_024304436.1:p.Leu299=
XR_001747945.2:n.2668C=
XR_001747946.2:n.2599C=
XR_002957189.1:n.2668C=
NM_000352.6:c.2527C= MANE Select NP_000343.2:p.Leu843=
NM_001287174.2:c.2530C= NP_001274103.1:p.Leu844=
NM_001351295.2:c.2593C= NP_001338224.1:p.Leu865=
NM_001351296.2:c.2527C= NP_001338225.1:p.Leu843=
NM_001351297.2:c.2524C= NP_001338226.1:p.Leu842=
NR_147094.2:n.2596C=
NM_001287174.3:c.2530C= NP_001274103.1:p.Leu844=