Canonical Allele Identifier: CA379787500
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395716G>C , CM000673.2:g.17395716G>C GRCh38
NC_000011.9:g.17417263G>C , CM000673.1:g.17417263G>C GRCh37
NC_000011.8:g.17373839G>C NCBI36
NG_008867.1:g.86187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3802C>G
ENST00000528374.2:c.792C>G
ENST00000529967.6:n.2540C>G
ENST00000532220.2:n.3434C>G
ENST00000642611.2:n.5534C>G
ENST00000644057.2:n.777C>G
ENST00000645004.2:n.1700C>G
ENST00000682051.1:n.4363C>G
ENST00000682110.1:n.4416C>G
ENST00000682140.1:c.4067C>G ENSP00000507829.1:p.Ala1356Gly
ENST00000682185.1:n.5506C>G
ENST00000682204.1:c.*2339C>G ENSP00000507094.1:n.*2339C>G
ENST00000682215.1:n.4783C>G
ENST00000682288.1:c.*2632C>G ENSP00000507506.1:n.*2632C>G
ENST00000682442.1:n.4636C>G
ENST00000682528.1:n.4493C>G
ENST00000682673.1:n.4360C>G
ENST00000682805.1:n.4821C>G
ENST00000682965.1:c.*623C>G ENSP00000508229.1:n.*623C>G
ENST00000683093.1:n.5500C>G
ENST00000683136.1:c.4084C>G ENSP00000507768.1:p.His1362Asp
ENST00000683153.1:n.4458C>G
ENST00000683365.1:n.4518C>G
ENST00000683377.1:n.4416C>G
ENST00000683456.1:c.*1338C>G ENSP00000508318.1:n.*1338C>G
ENST00000683522.1:n.4416C>G
ENST00000683562.1:c.*2370C>G ENSP00000508265.1:n.*2370C>G
ENST00000683693.1:n.5981C>G
ENST00000683725.1:c.4201C>G ENSP00000507496.1:p.His1401Asp
ENST00000684010.1:n.4411C>G
ENST00000684157.1:n.5401C>G
ENST00000684253.1:n.4319C>G
ENST00000684288.1:c.*2373C>G ENSP00000507143.1:n.*2373C>G
ENST00000684313.1:n.3848C>G
ENST00000684332.1:n.4489C>G
ENST00000684371.1:n.4522C>G
ENST00000684404.1:n.5444C>G
ENST00000684442.1:n.4640C>G
ENST00000684555.1:c.*2413C>G ENSP00000507705.1:n.*2413C>G
ENST00000684571.1:c.4042C>G ENSP00000506935.1:p.His1348Asp
ENST00000684593.1:c.*3906C>G ENSP00000507005.1:n.*3906C>G
ENST00000684711.1:c.*2597C>G ENSP00000506841.1:n.*2597C>G
ENST00000302539.9:c.4204C>G ENSP00000303960.4:p.His1402Asp
ENST00000389817.8:c.4201C>G MANE Select ENSP00000374467.4:p.His1401Asp
ENST00000642271.1:c.4198C>G ENSP00000493749.1:p.His1400Asp
ENST00000642579.1:c.2255C>G
ENST00000642611.1:n.5419C>G
ENST00000642902.1:c.3983C>G
ENST00000643260.1:c.4201C>G ENSP00000494450.1:p.His1401Asp
ENST00000643562.1:c.*2323C>G ENSP00000496124.1:n.*2323C>G
ENST00000643925.1:c.2841C>G
ENST00000644057.1:n.278C>G
ENST00000644484.1:c.*3587C>G ENSP00000493558.1:n.*3587C>G
ENST00000644675.1:c.*2373C>G ENSP00000494567.1:n.*2373C>G
ENST00000644757.1:c.*3202+548C>G ENSP00000495085.1:n.*3202+548C>G
ENST00000644772.1:c.4267C>G ENSP00000494321.1:p.His1423Asp
ENST00000645004.1:n.1894C>G
ENST00000645076.1:c.3400C>G
ENST00000645417.1:c.1389C>G
ENST00000645744.1:c.*3964-78C>G ENSP00000494564.1:n.*3964-78C>G
ENST00000645760.1:c.4622C>G
ENST00000645884.1:c.*1484C>G ENSP00000495516.1:n.*1484C>G
ENST00000646003.1:c.*2301-78C>G ENSP00000495259.1:n.*2301-78C>G
ENST00000646207.1:c.*3038C>G ENSP00000495025.1:n.*3038C>G
ENST00000646276.1:c.*3605C>G ENSP00000496070.1:n.*3605C>G
ENST00000646592.1:c.3507C>G
ENST00000646902.1:c.4168C>G ENSP00000494101.1:p.His1390Asp
ENST00000646993.1:c.*2743C>G ENSP00000493720.1:n.*2743C>G
ENST00000647013.1:c.4207C>G ENSP00000496741.1:n.4207C>G
ENST00000647015.1:c.3952C>G ENSP00000495389.1:p.His1318Asp
ENST00000647086.1:c.*3787C>G ENSP00000493677.1:n.*3787C>G
ENST00000647158.1:c.*2488C>G ENSP00000495744.1:n.*2488C>G
ENST00000302539.8:c.4204C>G ENSP00000303960.4:p.His1402Asp
ENST00000389817.7:c.4201C>G ENSP00000374467.3:p.His1401Asp
ENST00000525022.1:n.200C>G
ENST00000526037.5:n.65C>G
ENST00000526168.5:c.67-78C>G
ENST00000531642.5:c.37C>G
NM_000352.4:c.4201C>G NP_000343.2:p.His1401Asp
NM_001287174.1:c.4204C>G NP_001274103.1:p.His1402Asp
XM_011520331.1:c.4201C>G XP_011518633.1:p.His1401Asp
XM_011520332.1:c.4204C>G XP_011518634.1:p.His1402Asp
XM_011520333.1:c.2701C>G XP_011518635.1:p.His901Asp
XR_930890.1:n.4267C>G
NM_001351295.1:c.4267C>G NP_001338224.1:p.His1423Asp
NM_001351296.1:c.4201C>G NP_001338225.1:p.His1401Asp
NM_001351297.1:c.4198C>G NP_001338226.1:p.His1400Asp
NR_147094.1:n.4496C>G
XM_017018197.2:c.4270C>G XP_016873686.1:p.His1424Asp
XM_017018199.1:c.4267C>G XP_016873688.1:p.His1423Asp
XM_017018201.2:c.4270C>G XP_016873690.1:p.His1424Asp
XM_017018202.1:c.2767C>G XP_016873691.1:p.His923Asp
XM_017018204.1:c.2158C>G XP_016873693.1:p.His720Asp
XM_024448668.1:c.2569C>G XP_024304436.1:p.His857Asp
XR_001747945.2:n.4342C>G
XR_001747946.2:n.4273C>G
XR_002957189.1:n.6056C>G
NM_000352.6:c.4201C>G MANE Select NP_000343.2:p.His1401Asp
NM_001287174.2:c.4204C>G NP_001274103.1:p.His1402Asp
NM_001351295.2:c.4267C>G NP_001338224.1:p.His1423Asp
NM_001351296.2:c.4201C>G NP_001338225.1:p.His1401Asp
NM_001351297.2:c.4198C>G NP_001338226.1:p.His1400Asp
NR_147094.2:n.4496C>G
NM_001287174.3:c.4204C>G NP_001274103.1:p.His1402Asp