Canonical Allele Identifier: CA379791195
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397031G>C , CM000673.2:g.17397031G>C GRCh38
NC_000011.9:g.17418578G>C , CM000673.1:g.17418578G>C GRCh37
NC_000011.8:g.17375154G>C NCBI36
NG_008867.1:g.84872C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3605C>G
ENST00000528374.2:c.595C>G
ENST00000529967.6:n.2343C>G
ENST00000532220.2:n.2252C>G
ENST00000642611.2:n.4219C>G
ENST00000644057.2:n.447C>G
ENST00000645004.2:n.1503C>G
ENST00000682051.1:n.4166C>G
ENST00000682110.1:n.4219C>G
ENST00000682140.1:c.3985+162C>G ENSP00000507829.1:n.3985+162C>G
ENST00000682185.1:n.5309C>G
ENST00000682204.1:c.*2142C>G ENSP00000507094.1:n.*2142C>G
ENST00000682215.1:n.4586C>G
ENST00000682288.1:c.*2435C>G ENSP00000507506.1:n.*2435C>G
ENST00000682442.1:n.4439C>G
ENST00000682528.1:n.4296C>G
ENST00000682673.1:n.4163C>G
ENST00000682805.1:n.4586C>G
ENST00000682965.1:c.*426C>G ENSP00000508229.1:n.*426C>G
ENST00000683093.1:n.4318C>G
ENST00000683136.1:c.3887C>G ENSP00000507768.1:p.Pro1296Arg
ENST00000683153.1:n.4261C>G
ENST00000683365.1:n.4321C>G
ENST00000683377.1:n.4219C>G
ENST00000683456.1:c.*1141C>G ENSP00000508318.1:n.*1141C>G
ENST00000683522.1:n.4219C>G
ENST00000683562.1:c.*2173C>G ENSP00000508265.1:n.*2173C>G
ENST00000683693.1:n.4666C>G
ENST00000683725.1:c.4004C>G ENSP00000507496.1:p.Pro1335Arg
ENST00000684010.1:n.4214C>G
ENST00000684157.1:n.4219C>G
ENST00000684253.1:n.4122C>G
ENST00000684288.1:c.*2176C>G ENSP00000507143.1:n.*2176C>G
ENST00000684313.1:n.3651C>G
ENST00000684332.1:n.4292C>G
ENST00000684371.1:n.4325C>G
ENST00000684404.1:n.4262C>G
ENST00000684442.1:n.4443C>G
ENST00000684555.1:c.*2216C>G ENSP00000507705.1:n.*2216C>G
ENST00000684571.1:c.3845C>G ENSP00000506935.1:p.Pro1282Arg
ENST00000684593.1:c.*3709C>G ENSP00000507005.1:n.*3709C>G
ENST00000684711.1:c.*2400C>G ENSP00000506841.1:n.*2400C>G
ENST00000302539.9:c.4007C>G ENSP00000303960.4:p.Pro1336Arg
ENST00000389817.8:c.4004C>G MANE Select ENSP00000374467.4:p.Pro1335Arg
ENST00000642271.1:c.4001C>G ENSP00000493749.1:p.Pro1334Arg
ENST00000642579.1:c.2073-15C>G
ENST00000642611.1:n.4104C>G
ENST00000642902.1:c.3786C>G
ENST00000643260.1:c.4004C>G ENSP00000494450.1:p.Pro1335Arg
ENST00000643562.1:c.*2126C>G ENSP00000496124.1:n.*2126C>G
ENST00000643925.1:c.2644C>G
ENST00000644057.1:n.81C>G
ENST00000644484.1:c.*2405C>G ENSP00000493558.1:n.*2405C>G
ENST00000644675.1:c.*2176C>G ENSP00000494567.1:n.*2176C>G
ENST00000644757.1:c.*2435C>G ENSP00000495085.1:n.*2435C>G
ENST00000644772.1:c.4070C>G ENSP00000494321.1:p.Pro1357Arg
ENST00000645004.1:n.1659C>G
ENST00000645076.1:c.3203C>G
ENST00000645417.1:c.1192C>G
ENST00000645744.1:c.*2784C>G ENSP00000494564.1:n.*2784C>G
ENST00000645760.1:c.4425C>G
ENST00000645884.1:c.*1287C>G ENSP00000495516.1:n.*1287C>G
ENST00000646003.1:c.*2106C>G ENSP00000495259.1:n.*2106C>G
ENST00000646207.1:c.*2841C>G ENSP00000495025.1:n.*2841C>G
ENST00000646276.1:c.*2423C>G ENSP00000496070.1:n.*2423C>G
ENST00000646592.1:c.3310C>G
ENST00000646902.1:c.3986-15C>G ENSP00000494101.1:n.3986-15C>G
ENST00000646993.1:c.*2546C>G ENSP00000493720.1:n.*2546C>G
ENST00000647013.1:c.4010C>G ENSP00000496741.1:n.4010C>G
ENST00000647015.1:c.3755C>G ENSP00000495389.1:p.Pro1252Arg
ENST00000647086.1:c.*3605-15C>G ENSP00000493677.1:n.*3605-15C>G
ENST00000647158.1:c.*2291C>G ENSP00000495744.1:n.*2291C>G
ENST00000302539.8:c.4007C>G ENSP00000303960.4:p.Pro1336Arg
ENST00000389817.7:c.4004C>G ENSP00000374467.3:p.Pro1335Arg
ENST00000527905.5:c.*1026C>G ENSP00000431653.1:n.*1026C>G
ENST00000528374.1:c.486C>G
ENST00000531137.1:n.569C>G
ENST00000531891.1:c.357-15C>G
ENST00000532220.1:n.478C>G
NM_000352.4:c.4004C>G NP_000343.2:p.Pro1335Arg
NM_001287174.1:c.4007C>G NP_001274103.1:p.Pro1336Arg
XM_011520331.1:c.4004C>G XP_011518633.1:p.Pro1335Arg
XM_011520332.1:c.4007C>G XP_011518634.1:p.Pro1336Arg
XM_011520333.1:c.2504C>G XP_011518635.1:p.Pro835Arg
XR_930890.1:n.4070C>G
NM_001351295.1:c.4070C>G NP_001338224.1:p.Pro1357Arg
NM_001351296.1:c.4004C>G NP_001338225.1:p.Pro1335Arg
NM_001351297.1:c.4001C>G NP_001338226.1:p.Pro1334Arg
NR_147094.1:n.4299C>G
XM_017018197.2:c.4073C>G XP_016873686.1:p.Pro1358Arg
XM_017018199.1:c.4070C>G XP_016873688.1:p.Pro1357Arg
XM_017018201.2:c.4073C>G XP_016873690.1:p.Pro1358Arg
XM_017018202.1:c.2570C>G XP_016873691.1:p.Pro857Arg
XM_017018204.1:c.1961C>G XP_016873693.1:p.Pro654Arg
XM_024448668.1:c.2372C>G XP_024304436.1:p.Pro791Arg
XR_001747945.2:n.4145C>G
XR_001747946.2:n.4076C>G
XR_002957189.1:n.4741C>G
NM_000352.6:c.4004C>G MANE Select NP_000343.2:p.Pro1335Arg
NM_001287174.2:c.4007C>G NP_001274103.1:p.Pro1336Arg
NM_001351295.2:c.4070C>G NP_001338224.1:p.Pro1357Arg
NM_001351296.2:c.4004C>G NP_001338225.1:p.Pro1335Arg
NM_001351297.2:c.4001C>G NP_001338226.1:p.Pro1334Arg
NR_147094.2:n.4299C>G
NM_001287174.3:c.4007C>G NP_001274103.1:p.Pro1336Arg