Canonical Allele Identifier: CA379781791
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393704G>C , CM000673.2:g.17393704G>C GRCh38
NC_000011.9:g.17415251G>C , CM000673.1:g.17415251G>C GRCh37
NC_000011.8:g.17371827G>C NCBI36
NG_008867.1:g.88199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4202C>G
ENST00000526037.6:n.536C>G
ENST00000528374.2:c.1192C>G
ENST00000529967.6:n.2940C>G
ENST00000532220.2:n.3834C>G
ENST00000642611.2:n.5934C>G
ENST00000644057.2:n.1177C>G
ENST00000645004.2:n.2100C>G
ENST00000682051.1:n.4763C>G
ENST00000682110.1:n.4816C>G
ENST00000682140.1:c.*387C>G ENSP00000507829.1:n.*387C>G
ENST00000682185.1:n.5906C>G
ENST00000682204.1:c.*2739C>G ENSP00000507094.1:n.*2739C>G
ENST00000682215.1:n.5183C>G
ENST00000682288.1:c.*3032C>G ENSP00000507506.1:n.*3032C>G
ENST00000682442.1:n.5036C>G
ENST00000682528.1:n.4893C>G
ENST00000682673.1:n.4760C>G
ENST00000682805.1:n.5221C>G
ENST00000682965.1:c.*1023C>G ENSP00000508229.1:n.*1023C>G
ENST00000683093.1:n.5796C>G
ENST00000683136.1:c.4484C>G ENSP00000507768.1:p.Thr1495Ser
ENST00000683153.1:n.4858C>G
ENST00000683365.1:n.4918C>G
ENST00000683377.1:n.4712C>G
ENST00000683456.1:c.*1738C>G ENSP00000508318.1:n.*1738C>G
ENST00000683522.1:n.4898C>G
ENST00000683562.1:c.*2666C>G ENSP00000508265.1:n.*2666C>G
ENST00000683693.1:n.6277C>G
ENST00000683725.1:c.*66C>G ENSP00000507496.1:n.*66C>G
ENST00000684010.1:n.4811C>G
ENST00000684014.1:n.788C>G
ENST00000684157.1:n.5801C>G
ENST00000684253.1:n.4719C>G
ENST00000684288.1:c.*2773C>G ENSP00000507143.1:n.*2773C>G
ENST00000684313.1:n.4248C>G
ENST00000684332.1:n.4889C>G
ENST00000684371.1:n.4922C>G
ENST00000684404.1:n.5844C>G
ENST00000684442.1:n.5040C>G
ENST00000684555.1:c.*2813C>G ENSP00000507705.1:n.*2813C>G
ENST00000684571.1:c.4442C>G ENSP00000506935.1:p.Thr1481Ser
ENST00000684593.1:c.*4306C>G ENSP00000507005.1:n.*4306C>G
ENST00000684711.1:c.*2997C>G ENSP00000506841.1:n.*2997C>G
ENST00000302539.9:c.4604C>G ENSP00000303960.4:p.Thr1535Ser
ENST00000389817.8:c.4601C>G MANE Select ENSP00000374467.4:p.Thr1534Ser
ENST00000642271.1:c.4598C>G ENSP00000493749.1:p.Thr1533Ser
ENST00000642579.1:c.2655C>G
ENST00000642611.1:n.5819C>G
ENST00000642902.1:c.4383C>G
ENST00000643260.1:c.4601C>G ENSP00000494450.1:p.Thr1534Ser
ENST00000643562.1:c.*2723C>G ENSP00000496124.1:n.*2723C>G
ENST00000643925.1:c.3185+562C>G
ENST00000644057.1:n.760C>G
ENST00000644484.1:c.*3987C>G ENSP00000493558.1:n.*3987C>G
ENST00000644675.1:c.*2773C>G ENSP00000494567.1:n.*2773C>G
ENST00000644757.1:c.*3203-724C>G ENSP00000495085.1:n.*3203-724C>G
ENST00000644772.1:c.4667C>G ENSP00000494321.1:p.Thr1556Ser
ENST00000645004.1:n.2294C>G
ENST00000645076.1:c.3696C>G
ENST00000645417.1:c.1789C>G
ENST00000645744.1:c.*4286C>G ENSP00000494564.1:n.*4286C>G
ENST00000645760.1:c.5022C>G
ENST00000645884.1:c.*1884C>G ENSP00000495516.1:n.*1884C>G
ENST00000646003.1:c.*2623C>G ENSP00000495259.1:n.*2623C>G
ENST00000646207.1:c.*3438C>G ENSP00000495025.1:n.*3438C>G
ENST00000646276.1:c.*4005C>G ENSP00000496070.1:n.*4005C>G
ENST00000646592.1:c.3907C>G
ENST00000646902.1:c.4568C>G ENSP00000494101.1:p.Thr1523Ser
ENST00000646993.1:c.*3039C>G ENSP00000493720.1:n.*3039C>G
ENST00000647015.1:c.4352C>G ENSP00000495389.1:p.Thr1451Ser
ENST00000647086.1:c.*4187C>G ENSP00000493677.1:n.*4187C>G
ENST00000647158.1:c.*2888C>G ENSP00000495744.1:n.*2888C>G
ENST00000302539.8:c.4604C>G ENSP00000303960.4:p.Thr1535Ser
ENST00000389817.7:c.4601C>G ENSP00000374467.3:p.Thr1534Ser
ENST00000525022.1:n.496C>G
ENST00000526037.5:n.361C>G
ENST00000526168.5:c.389C>G
ENST00000531642.5:c.632C>G
NM_000352.4:c.4601C>G NP_000343.2:p.Thr1534Ser
NM_001287174.1:c.4604C>G NP_001274103.1:p.Thr1535Ser
XM_011520331.1:c.4601C>G XP_011518633.1:p.Thr1534Ser
XM_011520333.1:c.3101C>G XP_011518635.1:p.Thr1034Ser
XR_930890.1:n.4563C>G
NM_001351295.1:c.4667C>G NP_001338224.1:p.Thr1556Ser
NM_001351296.1:c.4601C>G NP_001338225.1:p.Thr1534Ser
NM_001351297.1:c.4598C>G NP_001338226.1:p.Thr1533Ser
NR_147094.1:n.4896C>G
XM_017018197.2:c.4670C>G XP_016873686.1:p.Thr1557Ser
XM_017018199.1:c.4667C>G XP_016873688.1:p.Thr1556Ser
XM_017018202.1:c.3167C>G XP_016873691.1:p.Thr1056Ser
XM_017018204.1:c.2558C>G XP_016873693.1:p.Thr853Ser
XM_024448668.1:c.2969C>G XP_024304436.1:p.Thr990Ser
XR_001747945.2:n.4638C>G
XR_001747946.2:n.4569C>G
XR_002957189.1:n.6352C>G
NM_000352.6:c.4601C>G MANE Select NP_000343.2:p.Thr1534Ser
NM_001287174.2:c.4604C>G NP_001274103.1:p.Thr1535Ser
NM_001351295.2:c.4667C>G NP_001338224.1:p.Thr1556Ser
NM_001351296.2:c.4601C>G NP_001338225.1:p.Thr1534Ser
NM_001351297.2:c.4598C>G NP_001338226.1:p.Thr1533Ser
NR_147094.2:n.4896C>G
NM_001287174.3:c.4604C>G NP_001274103.1:p.Thr1535Ser