Canonical Allele Identifier: CA379781481
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393115G>C , CM000673.2:g.17393115G>C GRCh38
NC_000011.9:g.17414662G>C , CM000673.1:g.17414662G>C GRCh37
NC_000011.8:g.17371238G>C NCBI36
NG_008867.1:g.88788C>G
NG_012446.1:g.545C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4223C>G
ENST00000526037.6:n.557C>G
ENST00000528374.2:c.1213C>G
ENST00000529967.6:n.2961C>G
ENST00000532220.2:n.3855C>G
ENST00000642611.2:n.5955C>G
ENST00000644057.2:n.1198C>G
ENST00000645004.2:n.2121C>G
ENST00000682051.1:n.4784C>G
ENST00000682110.1:n.4837C>G
ENST00000682140.1:c.*408C>G ENSP00000507829.1:n.*408C>G
ENST00000682185.1:n.5927C>G
ENST00000682204.1:c.*2760C>G ENSP00000507094.1:n.*2760C>G
ENST00000682215.1:n.5204C>G
ENST00000682288.1:c.*3053C>G ENSP00000507506.1:n.*3053C>G
ENST00000682442.1:n.5057C>G
ENST00000682528.1:n.4914C>G
ENST00000682673.1:n.4781C>G
ENST00000682805.1:n.5242C>G
ENST00000682965.1:c.*1044C>G ENSP00000508229.1:n.*1044C>G
ENST00000683093.1:n.5817C>G
ENST00000683136.1:c.4505C>G ENSP00000507768.1:p.Thr1502Ser
ENST00000683153.1:n.4879C>G
ENST00000683365.1:n.4939C>G
ENST00000683377.1:n.4733C>G
ENST00000683456.1:c.*1759C>G ENSP00000508318.1:n.*1759C>G
ENST00000683522.1:n.4919C>G
ENST00000683562.1:c.*2687C>G ENSP00000508265.1:n.*2687C>G
ENST00000683693.1:n.6298C>G
ENST00000683725.1:c.*87C>G ENSP00000507496.1:n.*87C>G
ENST00000684010.1:n.4832C>G
ENST00000684014.1:n.809C>G
ENST00000684157.1:n.5822C>G
ENST00000684253.1:n.4740C>G
ENST00000684288.1:c.*2794C>G ENSP00000507143.1:n.*2794C>G
ENST00000684313.1:n.4269C>G
ENST00000684332.1:n.4910C>G
ENST00000684371.1:n.4943C>G
ENST00000684404.1:n.5865C>G
ENST00000684442.1:n.5061C>G
ENST00000684555.1:c.*2834C>G ENSP00000507705.1:n.*2834C>G
ENST00000684571.1:c.4463C>G ENSP00000506935.1:p.Thr1488Ser
ENST00000684593.1:c.*4327C>G ENSP00000507005.1:n.*4327C>G
ENST00000684711.1:c.*3018C>G ENSP00000506841.1:n.*3018C>G
ENST00000302539.9:c.4625C>G ENSP00000303960.4:p.Thr1542Ser
ENST00000389817.8:c.4622C>G MANE Select ENSP00000374467.4:p.Thr1541Ser
ENST00000642271.1:c.4619C>G ENSP00000493749.1:p.Thr1540Ser
ENST00000642579.1:c.2676C>G
ENST00000642611.1:n.5840C>G
ENST00000642902.1:c.4404C>G
ENST00000643260.1:c.4622C>G ENSP00000494450.1:p.Thr1541Ser
ENST00000643562.1:c.*2744C>G ENSP00000496124.1:n.*2744C>G
ENST00000643925.1:c.3199C>G
ENST00000644057.1:n.781C>G
ENST00000644484.1:c.*4008C>G ENSP00000493558.1:n.*4008C>G
ENST00000644675.1:c.*2794C>G ENSP00000494567.1:n.*2794C>G
ENST00000644757.1:c.*3203-135C>G ENSP00000495085.1:n.*3203-135C>G
ENST00000644772.1:c.4688C>G ENSP00000494321.1:p.Thr1563Ser
ENST00000645004.1:n.2315C>G
ENST00000645076.1:c.3717C>G
ENST00000645417.1:c.1810C>G
ENST00000645744.1:c.*4307C>G ENSP00000494564.1:n.*4307C>G
ENST00000645760.1:c.5043C>G
ENST00000645884.1:c.*1905C>G ENSP00000495516.1:n.*1905C>G
ENST00000646003.1:c.*2644C>G ENSP00000495259.1:n.*2644C>G
ENST00000646207.1:c.*3459C>G ENSP00000495025.1:n.*3459C>G
ENST00000646276.1:c.*4026C>G ENSP00000496070.1:n.*4026C>G
ENST00000646592.1:c.3928C>G
ENST00000646902.1:c.4589C>G ENSP00000494101.1:p.Thr1530Ser
ENST00000646993.1:c.*3060C>G ENSP00000493720.1:n.*3060C>G
ENST00000647015.1:c.4373C>G ENSP00000495389.1:p.Thr1458Ser
ENST00000647086.1:c.*4208C>G ENSP00000493677.1:n.*4208C>G
ENST00000647158.1:c.*2909C>G ENSP00000495744.1:n.*2909C>G
ENST00000302539.8:c.4625C>G ENSP00000303960.4:p.Thr1542Ser
ENST00000389817.7:c.4622C>G ENSP00000374467.3:p.Thr1541Ser
ENST00000525022.1:n.601C>G
ENST00000526037.5:n.382C>G
ENST00000526168.5:c.410C>G
ENST00000531642.5:c.653C>G
NM_000352.4:c.4622C>G NP_000343.2:p.Thr1541Ser
NM_001287174.1:c.4625C>G NP_001274103.1:p.Thr1542Ser
XM_011520331.1:c.4622C>G XP_011518633.1:p.Thr1541Ser
XM_011520333.1:c.3122C>G XP_011518635.1:p.Thr1041Ser
XR_930890.1:n.4584C>G
NM_001351295.1:c.4688C>G NP_001338224.1:p.Thr1563Ser
NM_001351296.1:c.4622C>G NP_001338225.1:p.Thr1541Ser
NM_001351297.1:c.4619C>G NP_001338226.1:p.Thr1540Ser
NR_147094.1:n.4917C>G
XM_017018197.2:c.4691C>G XP_016873686.1:p.Thr1564Ser
XM_017018199.1:c.4688C>G XP_016873688.1:p.Thr1563Ser
XM_017018202.1:c.3188C>G XP_016873691.1:p.Thr1063Ser
XM_017018204.1:c.2579C>G XP_016873693.1:p.Thr860Ser
XM_024448668.1:c.2990C>G XP_024304436.1:p.Thr997Ser
XR_001747945.2:n.4659C>G
XR_001747946.2:n.4590C>G
XR_002957189.1:n.6373C>G
NM_000352.6:c.4622C>G MANE Select NP_000343.2:p.Thr1541Ser
NM_001287174.2:c.4625C>G NP_001274103.1:p.Thr1542Ser
NM_001351295.2:c.4688C>G NP_001338224.1:p.Thr1563Ser
NM_001351296.2:c.4622C>G NP_001338225.1:p.Thr1541Ser
NM_001351297.2:c.4619C>G NP_001338226.1:p.Thr1540Ser
NR_147094.2:n.4917C>G
NM_001287174.3:c.4625C>G NP_001274103.1:p.Thr1542Ser