Canonical Allele Identifier: CA379790595
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396974T>C , CM000673.2:g.17396974T>C GRCh38
NC_000011.9:g.17418521T>C , CM000673.1:g.17418521T>C GRCh37
NC_000011.8:g.17375097T>C NCBI36
NG_008867.1:g.84929A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3662A>G
ENST00000528374.2:c.652A>G
ENST00000529967.6:n.2400A>G
ENST00000532220.2:n.2309A>G
ENST00000642611.2:n.4276A>G
ENST00000644057.2:n.504A>G
ENST00000645004.2:n.1560A>G
ENST00000682051.1:n.4223A>G
ENST00000682110.1:n.4276A>G
ENST00000682140.1:c.3985+219A>G ENSP00000507829.1:n.3985+219A>G
ENST00000682185.1:n.5366A>G
ENST00000682204.1:c.*2199A>G ENSP00000507094.1:n.*2199A>G
ENST00000682215.1:n.4643A>G
ENST00000682288.1:c.*2492A>G ENSP00000507506.1:n.*2492A>G
ENST00000682442.1:n.4496A>G
ENST00000682528.1:n.4353A>G
ENST00000682673.1:n.4220A>G
ENST00000682805.1:n.4643A>G
ENST00000682965.1:c.*483A>G ENSP00000508229.1:n.*483A>G
ENST00000683093.1:n.4375A>G
ENST00000683136.1:c.3944A>G ENSP00000507768.1:p.Asp1315Gly
ENST00000683153.1:n.4318A>G
ENST00000683365.1:n.4378A>G
ENST00000683377.1:n.4276A>G
ENST00000683456.1:c.*1198A>G ENSP00000508318.1:n.*1198A>G
ENST00000683522.1:n.4276A>G
ENST00000683562.1:c.*2230A>G ENSP00000508265.1:n.*2230A>G
ENST00000683693.1:n.4723A>G
ENST00000683725.1:c.4061A>G ENSP00000507496.1:p.Asp1354Gly
ENST00000684010.1:n.4271A>G
ENST00000684157.1:n.4276A>G
ENST00000684253.1:n.4179A>G
ENST00000684288.1:c.*2233A>G ENSP00000507143.1:n.*2233A>G
ENST00000684313.1:n.3708A>G
ENST00000684332.1:n.4349A>G
ENST00000684371.1:n.4382A>G
ENST00000684404.1:n.4319A>G
ENST00000684442.1:n.4500A>G
ENST00000684555.1:c.*2273A>G ENSP00000507705.1:n.*2273A>G
ENST00000684571.1:c.3902A>G ENSP00000506935.1:p.Asp1301Gly
ENST00000684593.1:c.*3766A>G ENSP00000507005.1:n.*3766A>G
ENST00000684711.1:c.*2457A>G ENSP00000506841.1:n.*2457A>G
ENST00000302539.9:c.4064A>G ENSP00000303960.4:p.Asp1355Gly
ENST00000389817.8:c.4061A>G MANE Select ENSP00000374467.4:p.Asp1354Gly
ENST00000642271.1:c.4058A>G ENSP00000493749.1:p.Asp1353Gly
ENST00000642579.1:c.2115A>G
ENST00000642611.1:n.4161A>G
ENST00000642902.1:c.3843A>G
ENST00000643260.1:c.4061A>G ENSP00000494450.1:p.Asp1354Gly
ENST00000643562.1:c.*2183A>G ENSP00000496124.1:n.*2183A>G
ENST00000643925.1:c.2701A>G
ENST00000644057.1:n.138A>G
ENST00000644484.1:c.*2462A>G ENSP00000493558.1:n.*2462A>G
ENST00000644675.1:c.*2233A>G ENSP00000494567.1:n.*2233A>G
ENST00000644757.1:c.*2492A>G ENSP00000495085.1:n.*2492A>G
ENST00000644772.1:c.4127A>G ENSP00000494321.1:p.Asp1376Gly
ENST00000645004.1:n.1716A>G
ENST00000645076.1:c.3260A>G
ENST00000645417.1:c.1249A>G
ENST00000645744.1:c.*2841A>G ENSP00000494564.1:n.*2841A>G
ENST00000645760.1:c.4482A>G
ENST00000645884.1:c.*1344A>G ENSP00000495516.1:n.*1344A>G
ENST00000646003.1:c.*2163A>G ENSP00000495259.1:n.*2163A>G
ENST00000646207.1:c.*2898A>G ENSP00000495025.1:n.*2898A>G
ENST00000646276.1:c.*2480A>G ENSP00000496070.1:n.*2480A>G
ENST00000646592.1:c.3367A>G
ENST00000646902.1:c.4028A>G ENSP00000494101.1:p.Asp1343Gly
ENST00000646993.1:c.*2603A>G ENSP00000493720.1:n.*2603A>G
ENST00000647013.1:c.4067A>G ENSP00000496741.1:n.4067A>G
ENST00000647015.1:c.3812A>G ENSP00000495389.1:p.Asp1271Gly
ENST00000647086.1:c.*3647A>G ENSP00000493677.1:n.*3647A>G
ENST00000647158.1:c.*2348A>G ENSP00000495744.1:n.*2348A>G
ENST00000302539.8:c.4064A>G ENSP00000303960.4:p.Asp1355Gly
ENST00000389817.7:c.4061A>G ENSP00000374467.3:p.Asp1354Gly
ENST00000527905.5:c.*1083A>G ENSP00000431653.1:n.*1083A>G
ENST00000528374.1:c.543A>G
ENST00000531137.1:n.626A>G
ENST00000531891.1:c.399A>G
ENST00000532220.1:n.535A>G
NM_000352.4:c.4061A>G NP_000343.2:p.Asp1354Gly
NM_001287174.1:c.4064A>G NP_001274103.1:p.Asp1355Gly
XM_011520331.1:c.4061A>G XP_011518633.1:p.Asp1354Gly
XM_011520332.1:c.4064A>G XP_011518634.1:p.Asp1355Gly
XM_011520333.1:c.2561A>G XP_011518635.1:p.Asp854Gly
XR_930890.1:n.4127A>G
NM_001351295.1:c.4127A>G NP_001338224.1:p.Asp1376Gly
NM_001351296.1:c.4061A>G NP_001338225.1:p.Asp1354Gly
NM_001351297.1:c.4058A>G NP_001338226.1:p.Asp1353Gly
NR_147094.1:n.4356A>G
XM_017018197.2:c.4130A>G XP_016873686.1:p.Asp1377Gly
XM_017018199.1:c.4127A>G XP_016873688.1:p.Asp1376Gly
XM_017018201.2:c.4130A>G XP_016873690.1:p.Asp1377Gly
XM_017018202.1:c.2627A>G XP_016873691.1:p.Asp876Gly
XM_017018204.1:c.2018A>G XP_016873693.1:p.Asp673Gly
XM_024448668.1:c.2429A>G XP_024304436.1:p.Asp810Gly
XR_001747945.2:n.4202A>G
XR_001747946.2:n.4133A>G
XR_002957189.1:n.4798A>G
NM_000352.6:c.4061A>G MANE Select NP_000343.2:p.Asp1354Gly
NM_001287174.2:c.4064A>G NP_001274103.1:p.Asp1355Gly
NM_001351295.2:c.4127A>G NP_001338224.1:p.Asp1376Gly
NM_001351296.2:c.4061A>G NP_001338225.1:p.Asp1354Gly
NM_001351297.2:c.4058A>G NP_001338226.1:p.Asp1353Gly
NR_147094.2:n.4356A>G
NM_001287174.3:c.4064A>G NP_001274103.1:p.Asp1355Gly