Canonical Allele Identifier: CA935525150
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1953893795

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395840C>T , CM000673.2:g.17395840C>T GRCh38
NC_000011.9:g.17417387C>T , CM000673.1:g.17417387C>T GRCh37
NC_000011.8:g.17373963C>T NCBI36
NG_008867.1:g.86063G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3799+12G>A
ENST00000528374.2:c.789+12G>A
ENST00000529967.6:n.2537+12G>A
ENST00000532220.2:n.3431+12G>A
ENST00000642611.2:n.5410G>A
ENST00000644057.2:n.653G>A
ENST00000645004.2:n.1697+12G>A
ENST00000682051.1:n.4360+12G>A
ENST00000682110.1:n.4413+12G>A
ENST00000682140.1:c.4064+12G>A ENSP00000507829.1:n.4064+12G>A
ENST00000682185.1:n.5503+12G>A
ENST00000682204.1:c.*2336+12G>A ENSP00000507094.1:n.*2336+12G>A
ENST00000682215.1:n.4780+12G>A
ENST00000682288.1:c.*2629+12G>A ENSP00000507506.1:n.*2629+12G>A
ENST00000682442.1:n.4633+12G>A
ENST00000682528.1:n.4490+12G>A
ENST00000682673.1:n.4357+12G>A
ENST00000682805.1:n.4818+12G>A
ENST00000682965.1:c.*620+12G>A ENSP00000508229.1:n.*620+12G>A
ENST00000683093.1:n.5497+12G>A
ENST00000683136.1:c.4081+12G>A ENSP00000507768.1:n.4081+12G>A
ENST00000683153.1:n.4455+12G>A
ENST00000683365.1:n.4515+12G>A
ENST00000683377.1:n.4413+12G>A
ENST00000683456.1:c.*1335+12G>A ENSP00000508318.1:n.*1335+12G>A
ENST00000683522.1:n.4413+12G>A
ENST00000683562.1:c.*2367+12G>A ENSP00000508265.1:n.*2367+12G>A
ENST00000683693.1:n.5857G>A
ENST00000683725.1:c.4198+12G>A ENSP00000507496.1:n.4198+12G>A
ENST00000684010.1:n.4408+12G>A
ENST00000684157.1:n.5398+12G>A
ENST00000684253.1:n.4316+12G>A
ENST00000684288.1:c.*2370+12G>A ENSP00000507143.1:n.*2370+12G>A
ENST00000684313.1:n.3845+12G>A
ENST00000684332.1:n.4486+12G>A
ENST00000684371.1:n.4519+12G>A
ENST00000684404.1:n.5441+12G>A
ENST00000684442.1:n.4637+12G>A
ENST00000684555.1:c.*2410+12G>A ENSP00000507705.1:n.*2410+12G>A
ENST00000684571.1:c.4039+12G>A ENSP00000506935.1:n.4039+12G>A
ENST00000684593.1:c.*3903+12G>A ENSP00000507005.1:n.*3903+12G>A
ENST00000684711.1:c.*2594+12G>A ENSP00000506841.1:n.*2594+12G>A
ENST00000302539.9:c.4201+12G>A ENSP00000303960.4:n.4201+12G>A
ENST00000389817.8:c.4198+12G>A MANE Select ENSP00000374467.4:n.4198+12G>A
ENST00000642271.1:c.4195+12G>A ENSP00000493749.1:n.4195+12G>A
ENST00000642579.1:c.2252+12G>A
ENST00000642611.1:n.5295G>A
ENST00000642902.1:c.3980+12G>A
ENST00000643260.1:c.4198+12G>A ENSP00000494450.1:n.4198+12G>A
ENST00000643562.1:c.*2320+12G>A ENSP00000496124.1:n.*2320+12G>A
ENST00000643925.1:c.2838+12G>A
ENST00000644057.1:n.275+12G>A
ENST00000644484.1:c.*3584+12G>A ENSP00000493558.1:n.*3584+12G>A
ENST00000644675.1:c.*2370+12G>A ENSP00000494567.1:n.*2370+12G>A
ENST00000644757.1:c.*3202+424G>A ENSP00000495085.1:n.*3202+424G>A
ENST00000644772.1:c.4264+12G>A ENSP00000494321.1:n.4264+12G>A
ENST00000645004.1:n.1891+12G>A
ENST00000645076.1:c.3397+12G>A
ENST00000645417.1:c.1386+12G>A
ENST00000645744.1:c.*3963+12G>A ENSP00000494564.1:n.*3963+12G>A
ENST00000645760.1:c.4619+12G>A
ENST00000645884.1:c.*1481+12G>A ENSP00000495516.1:n.*1481+12G>A
ENST00000646003.1:c.*2300+12G>A ENSP00000495259.1:n.*2300+12G>A
ENST00000646207.1:c.*3035+12G>A ENSP00000495025.1:n.*3035+12G>A
ENST00000646276.1:c.*3602+12G>A ENSP00000496070.1:n.*3602+12G>A
ENST00000646592.1:c.3504+12G>A
ENST00000646902.1:c.4165+12G>A ENSP00000494101.1:n.4165+12G>A
ENST00000646993.1:c.*2740+12G>A ENSP00000493720.1:n.*2740+12G>A
ENST00000647013.1:c.4204+12G>A ENSP00000496741.1:n.4204+12G>A
ENST00000647015.1:c.3949+12G>A ENSP00000495389.1:n.3949+12G>A
ENST00000647086.1:c.*3784+12G>A ENSP00000493677.1:n.*3784+12G>A
ENST00000647158.1:c.*2485+12G>A ENSP00000495744.1:n.*2485+12G>A
ENST00000302539.8:c.4201+12G>A ENSP00000303960.4:n.4201+12G>A
ENST00000389817.7:c.4198+12G>A ENSP00000374467.3:n.4198+12G>A
ENST00000525022.1:n.76G>A
ENST00000526168.5:c.66+12G>A
ENST00000531642.5:c.34+12G>A
NM_000352.4:c.4198+12G>A NP_000343.2:n.4198+12G>A
NM_001287174.1:c.4201+12G>A NP_001274103.1:n.4201+12G>A
XM_011520331.1:c.4198+12G>A XP_011518633.1:n.4198+12G>A
XM_011520332.1:c.4201+12G>A XP_011518634.1:n.4201+12G>A
XM_011520333.1:c.2698+12G>A XP_011518635.1:n.2698+12G>A
XR_930890.1:n.4264+12G>A
NM_001351295.1:c.4264+12G>A NP_001338224.1:n.4264+12G>A
NM_001351296.1:c.4198+12G>A NP_001338225.1:n.4198+12G>A
NM_001351297.1:c.4195+12G>A NP_001338226.1:n.4195+12G>A
NR_147094.1:n.4493+12G>A
XM_017018197.2:c.4267+12G>A XP_016873686.1:n.4267+12G>A
XM_017018199.1:c.4264+12G>A XP_016873688.1:n.4264+12G>A
XM_017018201.2:c.4267+12G>A XP_016873690.1:n.4267+12G>A
XM_017018202.1:c.2764+12G>A XP_016873691.1:n.2764+12G>A
XM_017018204.1:c.2155+12G>A XP_016873693.1:n.2155+12G>A
XM_024448668.1:c.2566+12G>A XP_024304436.1:n.2566+12G>A
XR_001747945.2:n.4339+12G>A
XR_001747946.2:n.4270+12G>A
XR_002957189.1:n.5932G>A
NM_000352.6:c.4198+12G>A MANE Select NP_000343.2:n.4198+12G>A
NM_001287174.2:c.4201+12G>A NP_001274103.1:n.4201+12G>A
NM_001351295.2:c.4264+12G>A NP_001338224.1:n.4264+12G>A
NM_001351296.2:c.4198+12G>A NP_001338225.1:n.4198+12G>A
NM_001351297.2:c.4195+12G>A NP_001338226.1:n.4195+12G>A
NR_147094.2:n.4493+12G>A
NM_001287174.3:c.4201+12G>A NP_001274103.1:n.4201+12G>A