Canonical Allele Identifier: CA379790531
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396963T>C , CM000673.2:g.17396963T>C GRCh38
NC_000011.9:g.17418510T>C , CM000673.1:g.17418510T>C GRCh37
NC_000011.8:g.17375086T>C NCBI36
NG_008867.1:g.84940A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3673A>G
ENST00000528374.2:c.663A>G
ENST00000529967.6:n.2411A>G
ENST00000532220.2:n.2320A>G
ENST00000642611.2:n.4287A>G
ENST00000644057.2:n.515A>G
ENST00000645004.2:n.1571A>G
ENST00000682051.1:n.4234A>G
ENST00000682110.1:n.4287A>G
ENST00000682140.1:c.3985+230A>G ENSP00000507829.1:n.3985+230A>G
ENST00000682185.1:n.5377A>G
ENST00000682204.1:c.*2210A>G ENSP00000507094.1:n.*2210A>G
ENST00000682215.1:n.4654A>G
ENST00000682288.1:c.*2503A>G ENSP00000507506.1:n.*2503A>G
ENST00000682442.1:n.4507A>G
ENST00000682528.1:n.4364A>G
ENST00000682673.1:n.4231A>G
ENST00000682805.1:n.4654A>G
ENST00000682965.1:c.*494A>G ENSP00000508229.1:n.*494A>G
ENST00000683093.1:n.4386A>G
ENST00000683136.1:c.3955A>G ENSP00000507768.1:p.Lys1319Glu
ENST00000683153.1:n.4329A>G
ENST00000683365.1:n.4389A>G
ENST00000683377.1:n.4287A>G
ENST00000683456.1:c.*1209A>G ENSP00000508318.1:n.*1209A>G
ENST00000683522.1:n.4287A>G
ENST00000683562.1:c.*2241A>G ENSP00000508265.1:n.*2241A>G
ENST00000683693.1:n.4734A>G
ENST00000683725.1:c.4072A>G ENSP00000507496.1:p.Lys1358Glu
ENST00000684010.1:n.4282A>G
ENST00000684157.1:n.4287A>G
ENST00000684253.1:n.4190A>G
ENST00000684288.1:c.*2244A>G ENSP00000507143.1:n.*2244A>G
ENST00000684313.1:n.3719A>G
ENST00000684332.1:n.4360A>G
ENST00000684371.1:n.4393A>G
ENST00000684404.1:n.4330A>G
ENST00000684442.1:n.4511A>G
ENST00000684555.1:c.*2284A>G ENSP00000507705.1:n.*2284A>G
ENST00000684571.1:c.3913A>G ENSP00000506935.1:p.Lys1305Glu
ENST00000684593.1:c.*3777A>G ENSP00000507005.1:n.*3777A>G
ENST00000684711.1:c.*2468A>G ENSP00000506841.1:n.*2468A>G
ENST00000302539.9:c.4075A>G ENSP00000303960.4:p.Lys1359Glu
ENST00000389817.8:c.4072A>G MANE Select ENSP00000374467.4:p.Lys1358Glu
ENST00000642271.1:c.4069A>G ENSP00000493749.1:p.Lys1357Glu
ENST00000642579.1:c.2126A>G
ENST00000642611.1:n.4172A>G
ENST00000642902.1:c.3854A>G
ENST00000643260.1:c.4072A>G ENSP00000494450.1:p.Lys1358Glu
ENST00000643562.1:c.*2194A>G ENSP00000496124.1:n.*2194A>G
ENST00000643925.1:c.2712A>G
ENST00000644057.1:n.149A>G
ENST00000644484.1:c.*2473A>G ENSP00000493558.1:n.*2473A>G
ENST00000644675.1:c.*2244A>G ENSP00000494567.1:n.*2244A>G
ENST00000644757.1:c.*2503A>G ENSP00000495085.1:n.*2503A>G
ENST00000644772.1:c.4138A>G ENSP00000494321.1:p.Lys1380Glu
ENST00000645004.1:n.1727A>G
ENST00000645076.1:c.3271A>G
ENST00000645417.1:c.1260A>G
ENST00000645744.1:c.*2852A>G ENSP00000494564.1:n.*2852A>G
ENST00000645760.1:c.4493A>G
ENST00000645884.1:c.*1355A>G ENSP00000495516.1:n.*1355A>G
ENST00000646003.1:c.*2174A>G ENSP00000495259.1:n.*2174A>G
ENST00000646207.1:c.*2909A>G ENSP00000495025.1:n.*2909A>G
ENST00000646276.1:c.*2491A>G ENSP00000496070.1:n.*2491A>G
ENST00000646592.1:c.3378A>G
ENST00000646902.1:c.4039A>G ENSP00000494101.1:p.Lys1347Glu
ENST00000646993.1:c.*2614A>G ENSP00000493720.1:n.*2614A>G
ENST00000647013.1:c.4078A>G ENSP00000496741.1:n.4078A>G
ENST00000647015.1:c.3823A>G ENSP00000495389.1:p.Lys1275Glu
ENST00000647086.1:c.*3658A>G ENSP00000493677.1:n.*3658A>G
ENST00000647158.1:c.*2359A>G ENSP00000495744.1:n.*2359A>G
ENST00000302539.8:c.4075A>G ENSP00000303960.4:p.Lys1359Glu
ENST00000389817.7:c.4072A>G ENSP00000374467.3:p.Lys1358Glu
ENST00000527905.5:c.*1094A>G ENSP00000431653.1:n.*1094A>G
ENST00000528374.1:c.554A>G
ENST00000531137.1:n.637A>G
ENST00000531891.1:c.410A>G
ENST00000532220.1:n.546A>G
NM_000352.4:c.4072A>G NP_000343.2:p.Lys1358Glu
NM_001287174.1:c.4075A>G NP_001274103.1:p.Lys1359Glu
XM_011520331.1:c.4072A>G XP_011518633.1:p.Lys1358Glu
XM_011520332.1:c.4075A>G XP_011518634.1:p.Lys1359Glu
XM_011520333.1:c.2572A>G XP_011518635.1:p.Lys858Glu
XR_930890.1:n.4138A>G
NM_001351295.1:c.4138A>G NP_001338224.1:p.Lys1380Glu
NM_001351296.1:c.4072A>G NP_001338225.1:p.Lys1358Glu
NM_001351297.1:c.4069A>G NP_001338226.1:p.Lys1357Glu
NR_147094.1:n.4367A>G
XM_017018197.2:c.4141A>G XP_016873686.1:p.Lys1381Glu
XM_017018199.1:c.4138A>G XP_016873688.1:p.Lys1380Glu
XM_017018201.2:c.4141A>G XP_016873690.1:p.Lys1381Glu
XM_017018202.1:c.2638A>G XP_016873691.1:p.Lys880Glu
XM_017018204.1:c.2029A>G XP_016873693.1:p.Lys677Glu
XM_024448668.1:c.2440A>G XP_024304436.1:p.Lys814Glu
XR_001747945.2:n.4213A>G
XR_001747946.2:n.4144A>G
XR_002957189.1:n.4809A>G
NM_000352.6:c.4072A>G MANE Select NP_000343.2:p.Lys1358Glu
NM_001287174.2:c.4075A>G NP_001274103.1:p.Lys1359Glu
NM_001351295.2:c.4138A>G NP_001338224.1:p.Lys1380Glu
NM_001351296.2:c.4072A>G NP_001338225.1:p.Lys1358Glu
NM_001351297.2:c.4069A>G NP_001338226.1:p.Lys1357Glu
NR_147094.2:n.4367A>G
NM_001287174.3:c.4075A>G NP_001274103.1:p.Lys1359Glu