Canonical Allele Identifier: CA16041435
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 370329
dbSNP Id: rs1057516404

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395230C>T , CM000673.2:g.17395230C>T GRCh38
NC_000011.9:g.17416777C>T , CM000673.1:g.17416777C>T GRCh37
NC_000011.8:g.17373353C>T NCBI36
NG_008867.1:g.86673G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3954G>A
ENST00000526037.6:n.288G>A
ENST00000528374.2:c.944G>A
ENST00000529967.6:n.2692G>A
ENST00000532220.2:n.3586G>A
ENST00000642611.2:n.5686G>A
ENST00000644057.2:n.929G>A
ENST00000645004.2:n.1852G>A
ENST00000682051.1:n.4515G>A
ENST00000682110.1:n.4568G>A
ENST00000682140.1:c.*139G>A ENSP00000507829.1:n.*139G>A
ENST00000682185.1:n.5658G>A
ENST00000682204.1:c.*2491G>A ENSP00000507094.1:n.*2491G>A
ENST00000682215.1:n.4935G>A
ENST00000682288.1:c.*2784G>A ENSP00000507506.1:n.*2784G>A
ENST00000682442.1:n.4788G>A
ENST00000682528.1:n.4645G>A
ENST00000682673.1:n.4512G>A
ENST00000682805.1:n.4973G>A
ENST00000682965.1:c.*775G>A ENSP00000508229.1:n.*775G>A
ENST00000683093.1:n.5606+380G>A
ENST00000683136.1:c.4236G>A ENSP00000507768.1:p.Trp1412Ter
ENST00000683153.1:n.4610G>A
ENST00000683365.1:n.4670G>A
ENST00000683377.1:n.4522+380G>A
ENST00000683456.1:c.*1490G>A ENSP00000508318.1:n.*1490G>A
ENST00000683522.1:n.4568G>A
ENST00000683562.1:c.*2476+380G>A ENSP00000508265.1:n.*2476+380G>A
ENST00000683693.1:n.6087+380G>A
ENST00000683725.1:c.4307+380G>A ENSP00000507496.1:n.4307+380G>A
ENST00000684010.1:n.4563G>A
ENST00000684157.1:n.5553G>A
ENST00000684253.1:n.4471G>A
ENST00000684288.1:c.*2525G>A ENSP00000507143.1:n.*2525G>A
ENST00000684313.1:n.4000G>A
ENST00000684332.1:n.4641G>A
ENST00000684371.1:n.4674G>A
ENST00000684404.1:n.5596G>A
ENST00000684442.1:n.4792G>A
ENST00000684555.1:c.*2565G>A ENSP00000507705.1:n.*2565G>A
ENST00000684571.1:c.4194G>A ENSP00000506935.1:p.Trp1398Ter
ENST00000684593.1:c.*4058G>A ENSP00000507005.1:n.*4058G>A
ENST00000684711.1:c.*2749G>A ENSP00000506841.1:n.*2749G>A
ENST00000302539.9:c.4356G>A ENSP00000303960.4:p.Trp1452Ter
ENST00000389817.8:c.4353G>A MANE Select ENSP00000374467.4:p.Trp1451Ter
ENST00000642271.1:c.4350G>A ENSP00000493749.1:p.Trp1450Ter
ENST00000642579.1:c.2407G>A
ENST00000642611.1:n.5571G>A
ENST00000642902.1:c.4135G>A
ENST00000643260.1:c.4353G>A ENSP00000494450.1:p.Trp1451Ter
ENST00000643562.1:c.*2475G>A ENSP00000496124.1:n.*2475G>A
ENST00000643925.1:c.2993G>A
ENST00000644057.1:n.430G>A
ENST00000644484.1:c.*3739G>A ENSP00000493558.1:n.*3739G>A
ENST00000644675.1:c.*2525G>A ENSP00000494567.1:n.*2525G>A
ENST00000644757.1:c.*3202+1034G>A ENSP00000495085.1:n.*3202+1034G>A
ENST00000644772.1:c.4419G>A ENSP00000494321.1:p.Trp1473Ter
ENST00000645004.1:n.2046G>A
ENST00000645076.1:c.3506+380G>A
ENST00000645417.1:c.1541G>A
ENST00000645744.1:c.*4038G>A ENSP00000494564.1:n.*4038G>A
ENST00000645760.1:c.4774G>A
ENST00000645884.1:c.*1636G>A ENSP00000495516.1:n.*1636G>A
ENST00000646003.1:c.*2375G>A ENSP00000495259.1:n.*2375G>A
ENST00000646207.1:c.*3190G>A ENSP00000495025.1:n.*3190G>A
ENST00000646276.1:c.*3757G>A ENSP00000496070.1:n.*3757G>A
ENST00000646592.1:c.3659G>A
ENST00000646902.1:c.4320G>A ENSP00000494101.1:p.Trp1440Ter
ENST00000646993.1:c.*2849+380G>A ENSP00000493720.1:n.*2849+380G>A
ENST00000647013.1:c.4359G>A ENSP00000496741.1:n.4359G>A
ENST00000647015.1:c.4104G>A ENSP00000495389.1:p.Trp1368Ter
ENST00000647086.1:c.*3939G>A ENSP00000493677.1:n.*3939G>A
ENST00000647158.1:c.*2640G>A ENSP00000495744.1:n.*2640G>A
ENST00000302539.8:c.4356G>A ENSP00000303960.4:p.Trp1452Ter
ENST00000389817.7:c.4353G>A ENSP00000374467.3:p.Trp1451Ter
ENST00000525022.1:n.306+380G>A
ENST00000526037.5:n.171+380G>A
ENST00000526168.5:c.141G>A
ENST00000531642.5:c.384G>A
NM_000352.4:c.4353G>A NP_000343.2:p.Trp1451Ter
NM_001287174.1:c.4356G>A NP_001274103.1:p.Trp1452Ter
XM_011520331.1:c.4353G>A XP_011518633.1:p.Trp1451Ter
XM_011520332.1:c.4310+380G>A XP_011518634.1:n.4310+380G>A
XM_011520333.1:c.2853G>A XP_011518635.1:p.Trp951Ter
XR_930890.1:n.4373+380G>A
NM_001351295.1:c.4419G>A NP_001338224.1:p.Trp1473Ter
NM_001351296.1:c.4353G>A NP_001338225.1:p.Trp1451Ter
NM_001351297.1:c.4350G>A NP_001338226.1:p.Trp1450Ter
NR_147094.1:n.4648G>A
XM_017018197.2:c.4422G>A XP_016873686.1:p.Trp1474Ter
XM_017018199.1:c.4419G>A XP_016873688.1:p.Trp1473Ter
XM_017018201.2:c.4376+380G>A XP_016873690.1:n.4376+380G>A
XM_017018202.1:c.2919G>A XP_016873691.1:p.Trp973Ter
XM_017018204.1:c.2310G>A XP_016873693.1:p.Trp770Ter
XM_024448668.1:c.2721G>A XP_024304436.1:p.Trp907Ter
XR_001747945.2:n.4448+380G>A
XR_001747946.2:n.4379+380G>A
XR_002957189.1:n.6162+380G>A
NM_000352.6:c.4353G>A MANE Select NP_000343.2:p.Trp1451Ter
NM_001287174.2:c.4356G>A NP_001274103.1:p.Trp1452Ter
NM_001351295.2:c.4419G>A NP_001338224.1:p.Trp1473Ter
NM_001351296.2:c.4353G>A NP_001338225.1:p.Trp1451Ter
NM_001351297.2:c.4350G>A NP_001338226.1:p.Trp1450Ter
NR_147094.2:n.4648G>A
NM_001287174.3:c.4356G>A NP_001274103.1:p.Trp1452Ter