Canonical Allele Identifier: CA473301657
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414595C>A , CM000673.2:g.17414595C>A GRCh38
NC_000011.9:g.17436142C>A , CM000673.1:g.17436142C>A GRCh37
NC_000011.8:g.17392718C>A NCBI36
NG_008867.1:g.67308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1976G>T
ENST00000529967.6:n.566G>T
ENST00000642611.2:n.2376G>T
ENST00000682051.1:n.2323G>T
ENST00000682110.1:n.2376G>T
ENST00000682140.1:c.2304G>T ENSP00000507829.1:p.Val768=
ENST00000682185.1:n.3612G>T
ENST00000682204.1:c.*445G>T ENSP00000507094.1:n.*445G>T
ENST00000682215.1:n.2373G>T
ENST00000682288.1:c.*738G>T ENSP00000507506.1:n.*738G>T
ENST00000682442.1:n.2497G>T
ENST00000682528.1:n.2373G>T
ENST00000682673.1:n.2320G>T
ENST00000682805.1:n.2373G>T
ENST00000682965.1:c.2304G>T ENSP00000508229.1:p.Val768=
ENST00000683093.1:n.2475G>T
ENST00000683136.1:c.2304G>T ENSP00000507768.1:p.Val768=
ENST00000683153.1:n.2532G>T
ENST00000683365.1:n.2478G>T
ENST00000683377.1:n.2376G>T
ENST00000683456.1:c.2307G>T ENSP00000508318.1:p.Val769=
ENST00000683522.1:n.2376G>T
ENST00000683562.1:c.*476G>T ENSP00000508265.1:n.*476G>T
ENST00000683693.1:n.2373G>T
ENST00000683725.1:c.2307G>T ENSP00000507496.1:p.Val769=
ENST00000684010.1:n.2376G>T
ENST00000684157.1:n.2376G>T
ENST00000684253.1:n.2279G>T
ENST00000684288.1:c.*479G>T ENSP00000507143.1:n.*479G>T
ENST00000684313.1:n.1808G>T
ENST00000684332.1:n.2449G>T
ENST00000684371.1:n.2482G>T
ENST00000684404.1:n.2373G>T
ENST00000684442.1:n.2376G>T
ENST00000684555.1:c.*519G>T ENSP00000507705.1:n.*519G>T
ENST00000684571.1:c.2148G>T ENSP00000506935.1:p.Val716=
ENST00000684593.1:c.*2012G>T ENSP00000507005.1:n.*2012G>T
ENST00000684711.1:c.*703G>T ENSP00000506841.1:n.*703G>T
ENST00000302539.9:c.2310G>T ENSP00000303960.4:p.Val770=
ENST00000389817.8:c.2307G>T MANE Select ENSP00000374467.4:p.Val769=
ENST00000642271.1:c.2304G>T ENSP00000493749.1:p.Val768=
ENST00000642579.1:c.391G>T
ENST00000642611.1:n.2261G>T
ENST00000642902.1:c.2142G>T
ENST00000643260.1:c.2307G>T ENSP00000494450.1:p.Val769=
ENST00000643562.1:c.*283G>T ENSP00000496124.1:n.*283G>T
ENST00000643925.1:c.247G>T
ENST00000644447.1:c.663G>T ENSP00000496282.1:p.Val221=
ENST00000644472.1:c.*668G>T ENSP00000495378.1:n.*668G>T
ENST00000644484.1:c.*516G>T ENSP00000493558.1:n.*516G>T
ENST00000644542.1:c.*2012G>T ENSP00000495532.1:n.*2012G>T
ENST00000644675.1:c.*479G>T ENSP00000494567.1:n.*479G>T
ENST00000644757.1:c.*612G>T ENSP00000495085.1:n.*612G>T
ENST00000644772.1:c.2373G>T ENSP00000494321.1:p.Val791=
ENST00000645076.1:c.1559G>T
ENST00000645744.1:c.*671G>T ENSP00000494564.1:n.*671G>T
ENST00000645760.1:c.2582G>T
ENST00000645884.1:c.2307G>T ENSP00000495516.1:p.Val769=
ENST00000646003.1:c.*448G>T ENSP00000495259.1:n.*448G>T
ENST00000646207.1:c.*671G>T ENSP00000495025.1:n.*671G>T
ENST00000646276.1:c.*580G>T ENSP00000496070.1:n.*580G>T
ENST00000646592.1:c.1533G>T
ENST00000646902.1:c.2304G>T ENSP00000494101.1:p.Val768=
ENST00000646993.1:c.*703G>T ENSP00000493720.1:n.*703G>T
ENST00000647013.1:c.2313G>T ENSP00000496741.1:n.2313G>T
ENST00000647015.1:c.2058G>T ENSP00000495389.1:p.Val686=
ENST00000647086.1:c.*2037G>T ENSP00000493677.1:n.*2037G>T
ENST00000647158.1:c.*448G>T ENSP00000495744.1:n.*448G>T
ENST00000302539.8:c.2310G>T ENSP00000303960.4:p.Val770=
ENST00000389817.7:c.2307G>T ENSP00000374467.3:p.Val769=
ENST00000527905.5:c.2277G>T ENSP00000431653.1:p.Val759=
ENST00000531911.1:n.421G>T
NM_000352.4:c.2307G>T NP_000343.2:p.Val769=
NM_001287174.1:c.2310G>T NP_001274103.1:p.Val770=
XM_011520331.1:c.2307G>T XP_011518633.1:p.Val769=
XM_011520332.1:c.2310G>T XP_011518634.1:p.Val770=
XM_011520333.1:c.807G>T XP_011518635.1:p.Val269=
XM_011520334.1:c.2310G>T XP_011518636.1:p.Val770=
XR_930890.1:n.2373G>T
XR_930891.1:n.2373G>T
XR_930892.1:n.2373G>T
XR_930893.1:n.2370G>T
NM_001351295.1:c.2373G>T NP_001338224.1:p.Val791=
NM_001351296.1:c.2307G>T NP_001338225.1:p.Val769=
NM_001351297.1:c.2304G>T NP_001338226.1:p.Val768=
NR_147094.1:n.2376G>T
XM_017018197.2:c.2376G>T XP_016873686.1:p.Val792=
XM_017018199.1:c.2373G>T XP_016873688.1:p.Val791=
XM_017018201.2:c.2376G>T XP_016873690.1:p.Val792=
XM_017018202.1:c.873G>T XP_016873691.1:p.Val291=
XM_017018204.1:c.264G>T XP_016873693.1:p.Val88=
XM_024448668.1:c.675G>T XP_024304436.1:p.Val225=
XR_001747945.2:n.2448G>T
XR_001747946.2:n.2379G>T
XR_002957189.1:n.2448G>T
NM_000352.6:c.2307G>T MANE Select NP_000343.2:p.Val769=
NM_001287174.2:c.2310G>T NP_001274103.1:p.Val770=
NM_001351295.2:c.2373G>T NP_001338224.1:p.Val791=
NM_001351296.2:c.2307G>T NP_001338225.1:p.Val769=
NM_001351297.2:c.2304G>T NP_001338226.1:p.Val768=
NR_147094.2:n.2376G>T
NM_001287174.3:c.2310G>T NP_001274103.1:p.Val770=