Canonical Allele Identifier: CA1955138395
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428289C= , CM000673.2:g.17428289C= GRCh38
NC_000011.9:g.17449836C= , CM000673.1:g.17449836C= GRCh37
NC_000011.8:g.17406412C= NCBI36
NG_008867.1:g.53614G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1709G=
ENST00000529967.6:n.299G=
ENST00000642611.2:n.2106G=
ENST00000682051.1:n.2053G=
ENST00000682110.1:n.2106G=
ENST00000682140.1:c.2037G= ENSP00000507829.1:p.Gln679=
ENST00000682185.1:n.3345G=
ENST00000682204.1:c.*178G= ENSP00000507094.1:n.*178G=
ENST00000682215.1:n.2106G=
ENST00000682288.1:c.*468G= ENSP00000507506.1:n.*468G=
ENST00000682442.1:n.2227G=
ENST00000682528.1:n.2106G=
ENST00000682673.1:n.2053G=
ENST00000682805.1:n.2106G=
ENST00000682965.1:c.2037G= ENSP00000508229.1:p.Gln679=
ENST00000683093.1:n.2208G=
ENST00000683136.1:c.2037G= ENSP00000507768.1:p.Gln679=
ENST00000683153.1:n.2265G=
ENST00000683253.1:n.3122G=
ENST00000683365.1:n.2208G=
ENST00000683377.1:n.2106G=
ENST00000683456.1:c.2037G= ENSP00000508318.1:p.Gln679=
ENST00000683522.1:n.2106G=
ENST00000683562.1:c.*209G= ENSP00000508265.1:n.*209G=
ENST00000683693.1:n.2106G=
ENST00000683725.1:c.2040G= ENSP00000507496.1:p.Gln680=
ENST00000684010.1:n.2106G=
ENST00000684157.1:n.2106G=
ENST00000684253.1:n.2012G=
ENST00000684288.1:c.*209G= ENSP00000507143.1:n.*209G=
ENST00000684313.1:n.1724-11327G=
ENST00000684332.1:n.2179G=
ENST00000684371.1:n.2212G=
ENST00000684404.1:n.2106G=
ENST00000684442.1:n.2106G=
ENST00000684555.1:c.*249G= ENSP00000507705.1:n.*249G=
ENST00000684571.1:c.1881G= ENSP00000506935.1:p.Gln627=
ENST00000684593.1:c.*1745G= ENSP00000507005.1:n.*1745G=
ENST00000684711.1:c.*436G= ENSP00000506841.1:n.*436G=
ENST00000302539.9:c.2040G= ENSP00000303960.4:p.Gln680=
ENST00000389817.8:c.2040G= MANE Select ENSP00000374467.4:p.Gln680=
ENST00000532728.6:c.1621G=
ENST00000642271.1:c.2037G= ENSP00000493749.1:p.Gln679=
ENST00000642579.1:c.121G=
ENST00000642611.1:n.1991G=
ENST00000642902.1:c.1875G=
ENST00000643260.1:c.2037G= ENSP00000494450.1:p.Gln679=
ENST00000643562.1:c.*16G= ENSP00000496124.1:n.*16G=
ENST00000644447.1:c.393G= ENSP00000496282.1:p.Gln131=
ENST00000644472.1:c.*401G= ENSP00000495378.1:n.*401G=
ENST00000644484.1:c.*249G= ENSP00000493558.1:n.*249G=
ENST00000644542.1:c.*1742G= ENSP00000495532.1:n.*1742G=
ENST00000644649.1:c.1210G=
ENST00000644675.1:c.*209G= ENSP00000494567.1:n.*209G=
ENST00000644757.1:c.*342G= ENSP00000495085.1:n.*342G=
ENST00000644772.1:c.2106G= ENSP00000494321.1:p.Gln702=
ENST00000645076.1:c.1292G=
ENST00000645744.1:c.*401G= ENSP00000494564.1:n.*401G=
ENST00000645760.1:c.2315G=
ENST00000645884.1:c.2037G= ENSP00000495516.1:p.Gln679=
ENST00000646003.1:c.*178G= ENSP00000495259.1:n.*178G=
ENST00000646207.1:c.*401G= ENSP00000495025.1:n.*401G=
ENST00000646276.1:c.*310G= ENSP00000496070.1:n.*310G=
ENST00000646592.1:c.1263G=
ENST00000646902.1:c.2037G= ENSP00000494101.1:p.Gln679=
ENST00000646993.1:c.*436G= ENSP00000493720.1:n.*436G=
ENST00000647013.1:c.2043G= ENSP00000496741.1:n.2043G=
ENST00000647015.1:c.1788G= ENSP00000495389.1:p.Gln596=
ENST00000647086.1:c.*1767G= ENSP00000493677.1:n.*1767G=
ENST00000647158.1:c.*178G= ENSP00000495744.1:n.*178G=
ENST00000302539.8:c.2040G= ENSP00000303960.4:p.Gln680=
ENST00000389817.7:c.2040G= ENSP00000374467.3:p.Gln680=
ENST00000527905.5:c.2010G= ENSP00000431653.1:p.Gln670=
NM_000352.4:c.2040G= NP_000343.2:p.Gln680=
NM_001287174.1:c.2040G= NP_001274103.1:p.Gln680=
XM_011520331.1:c.2037G= XP_011518633.1:p.Gln679=
XM_011520332.1:c.2040G= XP_011518634.1:p.Gln680=
XM_011520333.1:c.537G= XP_011518635.1:p.Gln179=
XM_011520334.1:c.2040G= XP_011518636.1:p.Gln680=
XR_930890.1:n.2103G=
XR_930891.1:n.2103G=
XR_930892.1:n.2103G=
XR_930893.1:n.2103G=
NM_001351295.1:c.2106G= NP_001338224.1:p.Gln702=
NM_001351296.1:c.2037G= NP_001338225.1:p.Gln679=
NM_001351297.1:c.2037G= NP_001338226.1:p.Gln679=
NR_147094.1:n.2106G=
XM_017018197.2:c.2106G= XP_016873686.1:p.Gln702=
XM_017018199.1:c.2103G= XP_016873688.1:p.Gln701=
XM_017018201.2:c.2106G= XP_016873690.1:p.Gln702=
XM_017018202.1:c.603G= XP_016873691.1:p.Gln201=
XM_017018204.1:c.-4G= XP_016873693.1:n.-4G=
XM_024448668.1:c.405G= XP_024304436.1:p.Gln135=
XR_001747945.2:n.2178G=
XR_001747946.2:n.2112G=
XR_002957189.1:n.2178G=
NM_000352.6:c.2040G= MANE Select NP_000343.2:p.Gln680=
NM_001287174.2:c.2040G= NP_001274103.1:p.Gln680=
NM_001351295.2:c.2106G= NP_001338224.1:p.Gln702=
NM_001351296.2:c.2037G= NP_001338225.1:p.Gln679=
NM_001351297.2:c.2037G= NP_001338226.1:p.Gln679=
NR_147094.2:n.2106G=
NM_001287174.3:c.2040G= NP_001274103.1:p.Gln680=