Canonical Allele Identifier: CA379788436
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1290469080

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395917C>T , CM000673.2:g.17395917C>T GRCh38
NC_000011.9:g.17417464C>T , CM000673.1:g.17417464C>T GRCh37
NC_000011.8:g.17374040C>T NCBI36
NG_008867.1:g.85986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3734G>A
ENST00000528374.2:c.724G>A
ENST00000529967.6:n.2472G>A
ENST00000532220.2:n.3366G>A
ENST00000642611.2:n.5333G>A
ENST00000644057.2:n.576G>A
ENST00000645004.2:n.1632G>A
ENST00000682051.1:n.4295G>A
ENST00000682110.1:n.4348G>A
ENST00000682140.1:c.3999G>A ENSP00000507829.1:p.Arg1333=
ENST00000682185.1:n.5438G>A
ENST00000682204.1:c.*2271G>A ENSP00000507094.1:n.*2271G>A
ENST00000682215.1:n.4715G>A
ENST00000682288.1:c.*2564G>A ENSP00000507506.1:n.*2564G>A
ENST00000682442.1:n.4568G>A
ENST00000682528.1:n.4425G>A
ENST00000682673.1:n.4292G>A
ENST00000682805.1:n.4753G>A
ENST00000682965.1:c.*555G>A ENSP00000508229.1:n.*555G>A
ENST00000683093.1:n.5432G>A
ENST00000683136.1:c.4016G>A ENSP00000507768.1:p.Gly1339Asp
ENST00000683153.1:n.4390G>A
ENST00000683365.1:n.4450G>A
ENST00000683377.1:n.4348G>A
ENST00000683456.1:c.*1270G>A ENSP00000508318.1:n.*1270G>A
ENST00000683522.1:n.4348G>A
ENST00000683562.1:c.*2302G>A ENSP00000508265.1:n.*2302G>A
ENST00000683693.1:n.5780G>A
ENST00000683725.1:c.4133G>A ENSP00000507496.1:p.Gly1378Asp
ENST00000684010.1:n.4343G>A
ENST00000684157.1:n.5333G>A
ENST00000684253.1:n.4251G>A
ENST00000684288.1:c.*2305G>A ENSP00000507143.1:n.*2305G>A
ENST00000684313.1:n.3780G>A
ENST00000684332.1:n.4421G>A
ENST00000684371.1:n.4454G>A
ENST00000684404.1:n.5376G>A
ENST00000684442.1:n.4572G>A
ENST00000684555.1:c.*2345G>A ENSP00000507705.1:n.*2345G>A
ENST00000684571.1:c.3974G>A ENSP00000506935.1:p.Gly1325Asp
ENST00000684593.1:c.*3838G>A ENSP00000507005.1:n.*3838G>A
ENST00000684711.1:c.*2529G>A ENSP00000506841.1:n.*2529G>A
ENST00000302539.9:c.4136G>A ENSP00000303960.4:p.Gly1379Asp
ENST00000389817.8:c.4133G>A MANE Select ENSP00000374467.4:p.Gly1378Asp
ENST00000642271.1:c.4130G>A ENSP00000493749.1:p.Gly1377Asp
ENST00000642579.1:c.2187G>A
ENST00000642611.1:n.5218G>A
ENST00000642902.1:c.3915G>A
ENST00000643260.1:c.4133G>A ENSP00000494450.1:p.Gly1378Asp
ENST00000643562.1:c.*2255G>A ENSP00000496124.1:n.*2255G>A
ENST00000643925.1:c.2773G>A
ENST00000644057.1:n.210G>A
ENST00000644484.1:c.*3519G>A ENSP00000493558.1:n.*3519G>A
ENST00000644675.1:c.*2305G>A ENSP00000494567.1:n.*2305G>A
ENST00000644757.1:c.*3202+347G>A ENSP00000495085.1:n.*3202+347G>A
ENST00000644772.1:c.4199G>A ENSP00000494321.1:p.Gly1400Asp
ENST00000645004.1:n.1826G>A
ENST00000645076.1:c.3332G>A
ENST00000645417.1:c.1321G>A
ENST00000645744.1:c.*3898G>A ENSP00000494564.1:n.*3898G>A
ENST00000645760.1:c.4554G>A
ENST00000645884.1:c.*1416G>A ENSP00000495516.1:n.*1416G>A
ENST00000646003.1:c.*2235G>A ENSP00000495259.1:n.*2235G>A
ENST00000646207.1:c.*2970G>A ENSP00000495025.1:n.*2970G>A
ENST00000646276.1:c.*3537G>A ENSP00000496070.1:n.*3537G>A
ENST00000646592.1:c.3439G>A
ENST00000646902.1:c.4100G>A ENSP00000494101.1:p.Gly1367Asp
ENST00000646993.1:c.*2675G>A ENSP00000493720.1:n.*2675G>A
ENST00000647013.1:c.4139G>A ENSP00000496741.1:n.4139G>A
ENST00000647015.1:c.3884G>A ENSP00000495389.1:p.Gly1295Asp
ENST00000647086.1:c.*3719G>A ENSP00000493677.1:n.*3719G>A
ENST00000647158.1:c.*2420G>A ENSP00000495744.1:n.*2420G>A
ENST00000302539.8:c.4136G>A ENSP00000303960.4:p.Gly1379Asp
ENST00000389817.7:c.4133G>A ENSP00000374467.3:p.Gly1378Asp
ENST00000526168.5:c.1G>A
ENST00000532220.1:n.607G>A
NM_000352.4:c.4133G>A NP_000343.2:p.Gly1378Asp
NM_001287174.1:c.4136G>A NP_001274103.1:p.Gly1379Asp
XM_011520331.1:c.4133G>A XP_011518633.1:p.Gly1378Asp
XM_011520332.1:c.4136G>A XP_011518634.1:p.Gly1379Asp
XM_011520333.1:c.2633G>A XP_011518635.1:p.Gly878Asp
XR_930890.1:n.4199G>A
NM_001351295.1:c.4199G>A NP_001338224.1:p.Gly1400Asp
NM_001351296.1:c.4133G>A NP_001338225.1:p.Gly1378Asp
NM_001351297.1:c.4130G>A NP_001338226.1:p.Gly1377Asp
NR_147094.1:n.4428G>A
XM_017018197.2:c.4202G>A XP_016873686.1:p.Gly1401Asp
XM_017018199.1:c.4199G>A XP_016873688.1:p.Gly1400Asp
XM_017018201.2:c.4202G>A XP_016873690.1:p.Gly1401Asp
XM_017018202.1:c.2699G>A XP_016873691.1:p.Gly900Asp
XM_017018204.1:c.2090G>A XP_016873693.1:p.Gly697Asp
XM_024448668.1:c.2501G>A XP_024304436.1:p.Gly834Asp
XR_001747945.2:n.4274G>A
XR_001747946.2:n.4205G>A
XR_002957189.1:n.5855G>A
NM_000352.6:c.4133G>A MANE Select NP_000343.2:p.Gly1378Asp
NM_001287174.2:c.4136G>A NP_001274103.1:p.Gly1379Asp
NM_001351295.2:c.4199G>A NP_001338224.1:p.Gly1400Asp
NM_001351296.2:c.4133G>A NP_001338225.1:p.Gly1378Asp
NM_001351297.2:c.4130G>A NP_001338226.1:p.Gly1377Asp
NR_147094.2:n.4428G>A
NM_001287174.3:c.4136G>A NP_001274103.1:p.Gly1379Asp