Canonical Allele Identifier: CA379786355
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2023332
ClinVar RCV Id: RCV002857871

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395619C>T , CM000673.2:g.17395619C>T GRCh38
NC_000011.9:g.17417166C>T , CM000673.1:g.17417166C>T GRCh37
NC_000011.8:g.17373742C>T NCBI36
NG_008867.1:g.86284G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3899G>A
ENST00000528374.2:c.889G>A
ENST00000529967.6:n.2637G>A
ENST00000532220.2:n.3531G>A
ENST00000642611.2:n.5631G>A
ENST00000644057.2:n.874G>A
ENST00000645004.2:n.1797G>A
ENST00000682051.1:n.4460G>A
ENST00000682110.1:n.4513G>A
ENST00000682140.1:c.*84G>A ENSP00000507829.1:n.*84G>A
ENST00000682185.1:n.5603G>A
ENST00000682204.1:c.*2436G>A ENSP00000507094.1:n.*2436G>A
ENST00000682215.1:n.4880G>A
ENST00000682288.1:c.*2729G>A ENSP00000507506.1:n.*2729G>A
ENST00000682442.1:n.4733G>A
ENST00000682528.1:n.4590G>A
ENST00000682673.1:n.4457G>A
ENST00000682805.1:n.4918G>A
ENST00000682965.1:c.*720G>A ENSP00000508229.1:n.*720G>A
ENST00000683093.1:n.5597G>A
ENST00000683136.1:c.4181G>A ENSP00000507768.1:p.Gly1394Asp
ENST00000683153.1:n.4555G>A
ENST00000683365.1:n.4615G>A
ENST00000683377.1:n.4513G>A
ENST00000683456.1:c.*1435G>A ENSP00000508318.1:n.*1435G>A
ENST00000683522.1:n.4513G>A
ENST00000683562.1:c.*2467G>A ENSP00000508265.1:n.*2467G>A
ENST00000683693.1:n.6078G>A
ENST00000683725.1:c.4298G>A ENSP00000507496.1:p.Gly1433Asp
ENST00000684010.1:n.4508G>A
ENST00000684157.1:n.5498G>A
ENST00000684253.1:n.4416G>A
ENST00000684288.1:c.*2470G>A ENSP00000507143.1:n.*2470G>A
ENST00000684313.1:n.3945G>A
ENST00000684332.1:n.4586G>A
ENST00000684371.1:n.4619G>A
ENST00000684404.1:n.5541G>A
ENST00000684442.1:n.4737G>A
ENST00000684555.1:c.*2510G>A ENSP00000507705.1:n.*2510G>A
ENST00000684571.1:c.4139G>A ENSP00000506935.1:p.Gly1380Asp
ENST00000684593.1:c.*4003G>A ENSP00000507005.1:n.*4003G>A
ENST00000684711.1:c.*2694G>A ENSP00000506841.1:n.*2694G>A
ENST00000302539.9:c.4301G>A ENSP00000303960.4:p.Gly1434Asp
ENST00000389817.8:c.4298G>A MANE Select ENSP00000374467.4:p.Gly1433Asp
ENST00000642271.1:c.4295G>A ENSP00000493749.1:p.Gly1432Asp
ENST00000642579.1:c.2352G>A
ENST00000642611.1:n.5516G>A
ENST00000642902.1:c.4080G>A
ENST00000643260.1:c.4298G>A ENSP00000494450.1:p.Gly1433Asp
ENST00000643562.1:c.*2420G>A ENSP00000496124.1:n.*2420G>A
ENST00000643925.1:c.2938G>A
ENST00000644057.1:n.375G>A
ENST00000644484.1:c.*3684G>A ENSP00000493558.1:n.*3684G>A
ENST00000644675.1:c.*2470G>A ENSP00000494567.1:n.*2470G>A
ENST00000644757.1:c.*3202+645G>A ENSP00000495085.1:n.*3202+645G>A
ENST00000644772.1:c.4364G>A ENSP00000494321.1:p.Gly1455Asp
ENST00000645004.1:n.1991G>A
ENST00000645076.1:c.3497G>A
ENST00000645417.1:c.1486G>A
ENST00000645744.1:c.*3983G>A ENSP00000494564.1:n.*3983G>A
ENST00000645760.1:c.4719G>A
ENST00000645884.1:c.*1581G>A ENSP00000495516.1:n.*1581G>A
ENST00000646003.1:c.*2320G>A ENSP00000495259.1:n.*2320G>A
ENST00000646207.1:c.*3135G>A ENSP00000495025.1:n.*3135G>A
ENST00000646276.1:c.*3702G>A ENSP00000496070.1:n.*3702G>A
ENST00000646592.1:c.3604G>A
ENST00000646902.1:c.4265G>A ENSP00000494101.1:p.Gly1422Asp
ENST00000646993.1:c.*2840G>A ENSP00000493720.1:n.*2840G>A
ENST00000647013.1:c.4304G>A ENSP00000496741.1:n.4304G>A
ENST00000647015.1:c.4049G>A ENSP00000495389.1:p.Gly1350Asp
ENST00000647086.1:c.*3884G>A ENSP00000493677.1:n.*3884G>A
ENST00000647158.1:c.*2585G>A ENSP00000495744.1:n.*2585G>A
ENST00000302539.8:c.4301G>A ENSP00000303960.4:p.Gly1434Asp
ENST00000389817.7:c.4298G>A ENSP00000374467.3:p.Gly1433Asp
ENST00000525022.1:n.297G>A
ENST00000526037.5:n.162G>A
ENST00000526168.5:c.86G>A
ENST00000531642.5:c.134G>A
NM_000352.4:c.4298G>A NP_000343.2:p.Gly1433Asp
NM_001287174.1:c.4301G>A NP_001274103.1:p.Gly1434Asp
XM_011520331.1:c.4298G>A XP_011518633.1:p.Gly1433Asp
XM_011520332.1:c.4301G>A XP_011518634.1:p.Gly1434Asp
XM_011520333.1:c.2798G>A XP_011518635.1:p.Gly933Asp
XR_930890.1:n.4364G>A
NM_001351295.1:c.4364G>A NP_001338224.1:p.Gly1455Asp
NM_001351296.1:c.4298G>A NP_001338225.1:p.Gly1433Asp
NM_001351297.1:c.4295G>A NP_001338226.1:p.Gly1432Asp
NR_147094.1:n.4593G>A
XM_017018197.2:c.4367G>A XP_016873686.1:p.Gly1456Asp
XM_017018199.1:c.4364G>A XP_016873688.1:p.Gly1455Asp
XM_017018201.2:c.4367G>A XP_016873690.1:p.Gly1456Asp
XM_017018202.1:c.2864G>A XP_016873691.1:p.Gly955Asp
XM_017018204.1:c.2255G>A XP_016873693.1:p.Gly752Asp
XM_024448668.1:c.2666G>A XP_024304436.1:p.Gly889Asp
XR_001747945.2:n.4439G>A
XR_001747946.2:n.4370G>A
XR_002957189.1:n.6153G>A
NM_000352.6:c.4298G>A MANE Select NP_000343.2:p.Gly1433Asp
NM_001287174.2:c.4301G>A NP_001274103.1:p.Gly1434Asp
NM_001351295.2:c.4364G>A NP_001338224.1:p.Gly1455Asp
NM_001351296.2:c.4298G>A NP_001338225.1:p.Gly1433Asp
NM_001351297.2:c.4295G>A NP_001338226.1:p.Gly1432Asp
NR_147094.2:n.4593G>A
NM_001287174.3:c.4301G>A NP_001274103.1:p.Gly1434Asp