Canonical Allele Identifier: CA379781494
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393118T>C , CM000673.2:g.17393118T>C GRCh38
NC_000011.9:g.17414665T>C , CM000673.1:g.17414665T>C GRCh37
NC_000011.8:g.17371241T>C NCBI36
NG_008867.1:g.88785A>G
NG_012446.1:g.542A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4220A>G
ENST00000526037.6:n.554A>G
ENST00000528374.2:c.1210A>G
ENST00000529967.6:n.2958A>G
ENST00000532220.2:n.3852A>G
ENST00000642611.2:n.5952A>G
ENST00000644057.2:n.1195A>G
ENST00000645004.2:n.2118A>G
ENST00000682051.1:n.4781A>G
ENST00000682110.1:n.4834A>G
ENST00000682140.1:c.*405A>G ENSP00000507829.1:n.*405A>G
ENST00000682185.1:n.5924A>G
ENST00000682204.1:c.*2757A>G ENSP00000507094.1:n.*2757A>G
ENST00000682215.1:n.5201A>G
ENST00000682288.1:c.*3050A>G ENSP00000507506.1:n.*3050A>G
ENST00000682442.1:n.5054A>G
ENST00000682528.1:n.4911A>G
ENST00000682673.1:n.4778A>G
ENST00000682805.1:n.5239A>G
ENST00000682965.1:c.*1041A>G ENSP00000508229.1:n.*1041A>G
ENST00000683093.1:n.5814A>G
ENST00000683136.1:c.4502A>G ENSP00000507768.1:p.His1501Arg
ENST00000683153.1:n.4876A>G
ENST00000683365.1:n.4936A>G
ENST00000683377.1:n.4730A>G
ENST00000683456.1:c.*1756A>G ENSP00000508318.1:n.*1756A>G
ENST00000683522.1:n.4916A>G
ENST00000683562.1:c.*2684A>G ENSP00000508265.1:n.*2684A>G
ENST00000683693.1:n.6295A>G
ENST00000683725.1:c.*84A>G ENSP00000507496.1:n.*84A>G
ENST00000684010.1:n.4829A>G
ENST00000684014.1:n.806A>G
ENST00000684157.1:n.5819A>G
ENST00000684253.1:n.4737A>G
ENST00000684288.1:c.*2791A>G ENSP00000507143.1:n.*2791A>G
ENST00000684313.1:n.4266A>G
ENST00000684332.1:n.4907A>G
ENST00000684371.1:n.4940A>G
ENST00000684404.1:n.5862A>G
ENST00000684442.1:n.5058A>G
ENST00000684555.1:c.*2831A>G ENSP00000507705.1:n.*2831A>G
ENST00000684571.1:c.4460A>G ENSP00000506935.1:p.His1487Arg
ENST00000684593.1:c.*4324A>G ENSP00000507005.1:n.*4324A>G
ENST00000684711.1:c.*3015A>G ENSP00000506841.1:n.*3015A>G
ENST00000302539.9:c.4622A>G ENSP00000303960.4:p.His1541Arg
ENST00000389817.8:c.4619A>G MANE Select ENSP00000374467.4:p.His1540Arg
ENST00000642271.1:c.4616A>G ENSP00000493749.1:p.His1539Arg
ENST00000642579.1:c.2673A>G
ENST00000642611.1:n.5837A>G
ENST00000642902.1:c.4401A>G
ENST00000643260.1:c.4619A>G ENSP00000494450.1:p.His1540Arg
ENST00000643562.1:c.*2741A>G ENSP00000496124.1:n.*2741A>G
ENST00000643925.1:c.3196A>G
ENST00000644057.1:n.778A>G
ENST00000644484.1:c.*4005A>G ENSP00000493558.1:n.*4005A>G
ENST00000644675.1:c.*2791A>G ENSP00000494567.1:n.*2791A>G
ENST00000644757.1:c.*3203-138A>G ENSP00000495085.1:n.*3203-138A>G
ENST00000644772.1:c.4685A>G ENSP00000494321.1:p.His1562Arg
ENST00000645004.1:n.2312A>G
ENST00000645076.1:c.3714A>G
ENST00000645417.1:c.1807A>G
ENST00000645744.1:c.*4304A>G ENSP00000494564.1:n.*4304A>G
ENST00000645760.1:c.5040A>G
ENST00000645884.1:c.*1902A>G ENSP00000495516.1:n.*1902A>G
ENST00000646003.1:c.*2641A>G ENSP00000495259.1:n.*2641A>G
ENST00000646207.1:c.*3456A>G ENSP00000495025.1:n.*3456A>G
ENST00000646276.1:c.*4023A>G ENSP00000496070.1:n.*4023A>G
ENST00000646592.1:c.3925A>G
ENST00000646902.1:c.4586A>G ENSP00000494101.1:p.His1529Arg
ENST00000646993.1:c.*3057A>G ENSP00000493720.1:n.*3057A>G
ENST00000647015.1:c.4370A>G ENSP00000495389.1:p.His1457Arg
ENST00000647086.1:c.*4205A>G ENSP00000493677.1:n.*4205A>G
ENST00000647158.1:c.*2906A>G ENSP00000495744.1:n.*2906A>G
ENST00000302539.8:c.4622A>G ENSP00000303960.4:p.His1541Arg
ENST00000389817.7:c.4619A>G ENSP00000374467.3:p.His1540Arg
ENST00000525022.1:n.598A>G
ENST00000526037.5:n.379A>G
ENST00000526168.5:c.407A>G
ENST00000531642.5:c.650A>G
NM_000352.4:c.4619A>G NP_000343.2:p.His1540Arg
NM_001287174.1:c.4622A>G NP_001274103.1:p.His1541Arg
XM_011520331.1:c.4619A>G XP_011518633.1:p.His1540Arg
XM_011520333.1:c.3119A>G XP_011518635.1:p.His1040Arg
XR_930890.1:n.4581A>G
NM_001351295.1:c.4685A>G NP_001338224.1:p.His1562Arg
NM_001351296.1:c.4619A>G NP_001338225.1:p.His1540Arg
NM_001351297.1:c.4616A>G NP_001338226.1:p.His1539Arg
NR_147094.1:n.4914A>G
XM_017018197.2:c.4688A>G XP_016873686.1:p.His1563Arg
XM_017018199.1:c.4685A>G XP_016873688.1:p.His1562Arg
XM_017018202.1:c.3185A>G XP_016873691.1:p.His1062Arg
XM_017018204.1:c.2576A>G XP_016873693.1:p.His859Arg
XM_024448668.1:c.2987A>G XP_024304436.1:p.His996Arg
XR_001747945.2:n.4656A>G
XR_001747946.2:n.4587A>G
XR_002957189.1:n.6370A>G
NM_000352.6:c.4619A>G MANE Select NP_000343.2:p.His1540Arg
NM_001287174.2:c.4622A>G NP_001274103.1:p.His1541Arg
NM_001351295.2:c.4685A>G NP_001338224.1:p.His1562Arg
NM_001351296.2:c.4619A>G NP_001338225.1:p.His1540Arg
NM_001351297.2:c.4616A>G NP_001338226.1:p.His1539Arg
NR_147094.2:n.4914A>G
NM_001287174.3:c.4622A>G NP_001274103.1:p.His1541Arg