Canonical Allele Identifier: CA379781983
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393722G>C , CM000673.2:g.17393722G>C GRCh38
NC_000011.9:g.17415269G>C , CM000673.1:g.17415269G>C GRCh37
NC_000011.8:g.17371845G>C NCBI36
NG_008867.1:g.88181C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4184C>G
ENST00000526037.6:n.518C>G
ENST00000528374.2:c.1174C>G
ENST00000529967.6:n.2922C>G
ENST00000532220.2:n.3816C>G
ENST00000642611.2:n.5916C>G
ENST00000644057.2:n.1159C>G
ENST00000645004.2:n.2082C>G
ENST00000682051.1:n.4745C>G
ENST00000682110.1:n.4798C>G
ENST00000682140.1:c.*369C>G ENSP00000507829.1:n.*369C>G
ENST00000682185.1:n.5888C>G
ENST00000682204.1:c.*2721C>G ENSP00000507094.1:n.*2721C>G
ENST00000682215.1:n.5165C>G
ENST00000682288.1:c.*3014C>G ENSP00000507506.1:n.*3014C>G
ENST00000682442.1:n.5018C>G
ENST00000682528.1:n.4875C>G
ENST00000682673.1:n.4742C>G
ENST00000682805.1:n.5203C>G
ENST00000682965.1:c.*1005C>G ENSP00000508229.1:n.*1005C>G
ENST00000683093.1:n.5778C>G
ENST00000683136.1:c.4466C>G ENSP00000507768.1:p.Ala1489Gly
ENST00000683153.1:n.4840C>G
ENST00000683365.1:n.4900C>G
ENST00000683377.1:n.4694C>G
ENST00000683456.1:c.*1720C>G ENSP00000508318.1:n.*1720C>G
ENST00000683522.1:n.4880C>G
ENST00000683562.1:c.*2648C>G ENSP00000508265.1:n.*2648C>G
ENST00000683693.1:n.6259C>G
ENST00000683725.1:c.*48C>G ENSP00000507496.1:n.*48C>G
ENST00000684010.1:n.4793C>G
ENST00000684014.1:n.770C>G
ENST00000684157.1:n.5783C>G
ENST00000684253.1:n.4701C>G
ENST00000684288.1:c.*2755C>G ENSP00000507143.1:n.*2755C>G
ENST00000684313.1:n.4230C>G
ENST00000684332.1:n.4871C>G
ENST00000684371.1:n.4904C>G
ENST00000684404.1:n.5826C>G
ENST00000684442.1:n.5022C>G
ENST00000684555.1:c.*2795C>G ENSP00000507705.1:n.*2795C>G
ENST00000684571.1:c.4424C>G ENSP00000506935.1:p.Ala1475Gly
ENST00000684593.1:c.*4288C>G ENSP00000507005.1:n.*4288C>G
ENST00000684711.1:c.*2979C>G ENSP00000506841.1:n.*2979C>G
ENST00000302539.9:c.4586C>G ENSP00000303960.4:p.Ala1529Gly
ENST00000389817.8:c.4583C>G MANE Select ENSP00000374467.4:p.Ala1528Gly
ENST00000642271.1:c.4580C>G ENSP00000493749.1:p.Ala1527Gly
ENST00000642579.1:c.2637C>G
ENST00000642611.1:n.5801C>G
ENST00000642902.1:c.4365C>G
ENST00000643260.1:c.4583C>G ENSP00000494450.1:p.Ala1528Gly
ENST00000643562.1:c.*2705C>G ENSP00000496124.1:n.*2705C>G
ENST00000643925.1:c.3185+544C>G
ENST00000644057.1:n.742C>G
ENST00000644484.1:c.*3969C>G ENSP00000493558.1:n.*3969C>G
ENST00000644675.1:c.*2755C>G ENSP00000494567.1:n.*2755C>G
ENST00000644757.1:c.*3203-742C>G ENSP00000495085.1:n.*3203-742C>G
ENST00000644772.1:c.4649C>G ENSP00000494321.1:p.Ala1550Gly
ENST00000645004.1:n.2276C>G
ENST00000645076.1:c.3678C>G
ENST00000645417.1:c.1771C>G
ENST00000645744.1:c.*4268C>G ENSP00000494564.1:n.*4268C>G
ENST00000645760.1:c.5004C>G
ENST00000645884.1:c.*1866C>G ENSP00000495516.1:n.*1866C>G
ENST00000646003.1:c.*2605C>G ENSP00000495259.1:n.*2605C>G
ENST00000646207.1:c.*3420C>G ENSP00000495025.1:n.*3420C>G
ENST00000646276.1:c.*3987C>G ENSP00000496070.1:n.*3987C>G
ENST00000646592.1:c.3889C>G
ENST00000646902.1:c.4550C>G ENSP00000494101.1:p.Ala1517Gly
ENST00000646993.1:c.*3021C>G ENSP00000493720.1:n.*3021C>G
ENST00000647015.1:c.4334C>G ENSP00000495389.1:p.Ala1445Gly
ENST00000647086.1:c.*4169C>G ENSP00000493677.1:n.*4169C>G
ENST00000647158.1:c.*2870C>G ENSP00000495744.1:n.*2870C>G
ENST00000302539.8:c.4586C>G ENSP00000303960.4:p.Ala1529Gly
ENST00000389817.7:c.4583C>G ENSP00000374467.3:p.Ala1528Gly
ENST00000525022.1:n.478C>G
ENST00000526037.5:n.343C>G
ENST00000526168.5:c.371C>G
ENST00000531642.5:c.614C>G
NM_000352.4:c.4583C>G NP_000343.2:p.Ala1528Gly
NM_001287174.1:c.4586C>G NP_001274103.1:p.Ala1529Gly
XM_011520331.1:c.4583C>G XP_011518633.1:p.Ala1528Gly
XM_011520333.1:c.3083C>G XP_011518635.1:p.Ala1028Gly
XR_930890.1:n.4545C>G
NM_001351295.1:c.4649C>G NP_001338224.1:p.Ala1550Gly
NM_001351296.1:c.4583C>G NP_001338225.1:p.Ala1528Gly
NM_001351297.1:c.4580C>G NP_001338226.1:p.Ala1527Gly
NR_147094.1:n.4878C>G
XM_017018197.2:c.4652C>G XP_016873686.1:p.Ala1551Gly
XM_017018199.1:c.4649C>G XP_016873688.1:p.Ala1550Gly
XM_017018202.1:c.3149C>G XP_016873691.1:p.Ala1050Gly
XM_017018204.1:c.2540C>G XP_016873693.1:p.Ala847Gly
XM_024448668.1:c.2951C>G XP_024304436.1:p.Ala984Gly
XR_001747945.2:n.4620C>G
XR_001747946.2:n.4551C>G
XR_002957189.1:n.6334C>G
NM_000352.6:c.4583C>G MANE Select NP_000343.2:p.Ala1528Gly
NM_001287174.2:c.4586C>G NP_001274103.1:p.Ala1529Gly
NM_001351295.2:c.4649C>G NP_001338224.1:p.Ala1550Gly
NM_001351296.2:c.4583C>G NP_001338225.1:p.Ala1528Gly
NM_001351297.2:c.4580C>G NP_001338226.1:p.Ala1527Gly
NR_147094.2:n.4878C>G
NM_001287174.3:c.4586C>G NP_001274103.1:p.Ala1529Gly