Canonical Allele Identifier: CA1955132205
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414586A= , CM000673.2:g.17414586A= GRCh38
NC_000011.9:g.17436133A= , CM000673.1:g.17436133A= GRCh37
NC_000011.8:g.17392709A= NCBI36
NG_008867.1:g.67317T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1985T=
ENST00000529967.6:n.575T=
ENST00000642611.2:n.2385T=
ENST00000682051.1:n.2332T=
ENST00000682110.1:n.2385T=
ENST00000682140.1:c.2313T= ENSP00000507829.1:p.Ala771=
ENST00000682185.1:n.3621T=
ENST00000682204.1:c.*454T= ENSP00000507094.1:n.*454T=
ENST00000682215.1:n.2382T=
ENST00000682288.1:c.*747T= ENSP00000507506.1:n.*747T=
ENST00000682442.1:n.2506T=
ENST00000682528.1:n.2382T=
ENST00000682673.1:n.2329T=
ENST00000682805.1:n.2382T=
ENST00000682965.1:c.2313T= ENSP00000508229.1:p.Ala771=
ENST00000683093.1:n.2484T=
ENST00000683136.1:c.2313T= ENSP00000507768.1:p.Ala771=
ENST00000683153.1:n.2541T=
ENST00000683365.1:n.2487T=
ENST00000683377.1:n.2385T=
ENST00000683456.1:c.2316T= ENSP00000508318.1:p.Ala772=
ENST00000683522.1:n.2385T=
ENST00000683562.1:c.*485T= ENSP00000508265.1:n.*485T=
ENST00000683693.1:n.2382T=
ENST00000683725.1:c.2316T= ENSP00000507496.1:p.Ala772=
ENST00000684010.1:n.2385T=
ENST00000684157.1:n.2385T=
ENST00000684253.1:n.2288T=
ENST00000684288.1:c.*488T= ENSP00000507143.1:n.*488T=
ENST00000684313.1:n.1817T=
ENST00000684332.1:n.2458T=
ENST00000684371.1:n.2491T=
ENST00000684404.1:n.2382T=
ENST00000684442.1:n.2385T=
ENST00000684555.1:c.*528T= ENSP00000507705.1:n.*528T=
ENST00000684571.1:c.2157T= ENSP00000506935.1:p.Ala719=
ENST00000684593.1:c.*2021T= ENSP00000507005.1:n.*2021T=
ENST00000684711.1:c.*712T= ENSP00000506841.1:n.*712T=
ENST00000302539.9:c.2319T= ENSP00000303960.4:p.Ala773=
ENST00000389817.8:c.2316T= MANE Select ENSP00000374467.4:p.Ala772=
ENST00000642271.1:c.2313T= ENSP00000493749.1:p.Ala771=
ENST00000642579.1:c.400T=
ENST00000642611.1:n.2270T=
ENST00000642902.1:c.2151T=
ENST00000643260.1:c.2316T= ENSP00000494450.1:p.Ala772=
ENST00000643562.1:c.*292T= ENSP00000496124.1:n.*292T=
ENST00000643925.1:c.256T=
ENST00000644447.1:c.672T= ENSP00000496282.1:p.Ala224=
ENST00000644472.1:c.*677T= ENSP00000495378.1:n.*677T=
ENST00000644484.1:c.*525T= ENSP00000493558.1:n.*525T=
ENST00000644542.1:c.*2021T= ENSP00000495532.1:n.*2021T=
ENST00000644675.1:c.*488T= ENSP00000494567.1:n.*488T=
ENST00000644757.1:c.*621T= ENSP00000495085.1:n.*621T=
ENST00000644772.1:c.2382T= ENSP00000494321.1:p.Ala794=
ENST00000645076.1:c.1568T=
ENST00000645744.1:c.*680T= ENSP00000494564.1:n.*680T=
ENST00000645760.1:c.2591T=
ENST00000645884.1:c.2316T= ENSP00000495516.1:p.Ala772=
ENST00000646003.1:c.*457T= ENSP00000495259.1:n.*457T=
ENST00000646207.1:c.*680T= ENSP00000495025.1:n.*680T=
ENST00000646276.1:c.*589T= ENSP00000496070.1:n.*589T=
ENST00000646592.1:c.1542T=
ENST00000646902.1:c.2313T= ENSP00000494101.1:p.Ala771=
ENST00000646993.1:c.*712T= ENSP00000493720.1:n.*712T=
ENST00000647013.1:c.2322T= ENSP00000496741.1:n.2322T=
ENST00000647015.1:c.2067T= ENSP00000495389.1:p.Ala689=
ENST00000647086.1:c.*2046T= ENSP00000493677.1:n.*2046T=
ENST00000647158.1:c.*457T= ENSP00000495744.1:n.*457T=
ENST00000302539.8:c.2319T= ENSP00000303960.4:p.Ala773=
ENST00000389817.7:c.2316T= ENSP00000374467.3:p.Ala772=
ENST00000527905.5:c.2286T= ENSP00000431653.1:p.Ala762=
ENST00000531911.1:n.430T=
NM_000352.4:c.2316T= NP_000343.2:p.Ala772=
NM_001287174.1:c.2319T= NP_001274103.1:p.Ala773=
XM_011520331.1:c.2316T= XP_011518633.1:p.Ala772=
XM_011520332.1:c.2319T= XP_011518634.1:p.Ala773=
XM_011520333.1:c.816T= XP_011518635.1:p.Ala272=
XM_011520334.1:c.2319T= XP_011518636.1:p.Ala773=
XR_930890.1:n.2382T=
XR_930891.1:n.2382T=
XR_930892.1:n.2382T=
XR_930893.1:n.2379T=
NM_001351295.1:c.2382T= NP_001338224.1:p.Ala794=
NM_001351296.1:c.2316T= NP_001338225.1:p.Ala772=
NM_001351297.1:c.2313T= NP_001338226.1:p.Ala771=
NR_147094.1:n.2385T=
XM_017018197.2:c.2385T= XP_016873686.1:p.Ala795=
XM_017018199.1:c.2382T= XP_016873688.1:p.Ala794=
XM_017018201.2:c.2385T= XP_016873690.1:p.Ala795=
XM_017018202.1:c.882T= XP_016873691.1:p.Ala294=
XM_017018204.1:c.273T= XP_016873693.1:p.Ala91=
XM_024448668.1:c.684T= XP_024304436.1:p.Ala228=
XR_001747945.2:n.2457T=
XR_001747946.2:n.2388T=
XR_002957189.1:n.2457T=
NM_000352.6:c.2316T= MANE Select NP_000343.2:p.Ala772=
NM_001287174.2:c.2319T= NP_001274103.1:p.Ala773=
NM_001351295.2:c.2382T= NP_001338224.1:p.Ala794=
NM_001351296.2:c.2316T= NP_001338225.1:p.Ala772=
NM_001351297.2:c.2313T= NP_001338226.1:p.Ala771=
NR_147094.2:n.2385T=
NM_001287174.3:c.2319T= NP_001274103.1:p.Ala773=