Canonical Allele Identifier: CA379815043
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1357284297

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428290T>C , CM000673.2:g.17428290T>C GRCh38
NC_000011.9:g.17449837T>C , CM000673.1:g.17449837T>C GRCh37
NC_000011.8:g.17406413T>C NCBI36
NG_008867.1:g.53613A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.1708A>G
ENST00000529967.6:n.298A>G
ENST00000642611.2:n.2105A>G
ENST00000682051.1:n.2052A>G
ENST00000682110.1:n.2105A>G
ENST00000682140.1:c.2036A>G ENSP00000507829.1:p.Gln679Arg
ENST00000682185.1:n.3344A>G
ENST00000682204.1:c.*177A>G ENSP00000507094.1:n.*177A>G
ENST00000682215.1:n.2105A>G
ENST00000682288.1:c.*467A>G ENSP00000507506.1:n.*467A>G
ENST00000682442.1:n.2226A>G
ENST00000682528.1:n.2105A>G
ENST00000682673.1:n.2052A>G
ENST00000682805.1:n.2105A>G
ENST00000682965.1:c.2036A>G ENSP00000508229.1:p.Gln679Arg
ENST00000683093.1:n.2207A>G
ENST00000683136.1:c.2036A>G ENSP00000507768.1:p.Gln679Arg
ENST00000683153.1:n.2264A>G
ENST00000683253.1:n.3121A>G
ENST00000683365.1:n.2207A>G
ENST00000683377.1:n.2105A>G
ENST00000683456.1:c.2036A>G ENSP00000508318.1:p.Gln679Arg
ENST00000683522.1:n.2105A>G
ENST00000683562.1:c.*208A>G ENSP00000508265.1:n.*208A>G
ENST00000683693.1:n.2105A>G
ENST00000683725.1:c.2039A>G ENSP00000507496.1:p.Gln680Arg
ENST00000684010.1:n.2105A>G
ENST00000684157.1:n.2105A>G
ENST00000684253.1:n.2011A>G
ENST00000684288.1:c.*208A>G ENSP00000507143.1:n.*208A>G
ENST00000684313.1:n.1724-11328A>G
ENST00000684332.1:n.2178A>G
ENST00000684371.1:n.2211A>G
ENST00000684404.1:n.2105A>G
ENST00000684442.1:n.2105A>G
ENST00000684555.1:c.*248A>G ENSP00000507705.1:n.*248A>G
ENST00000684571.1:c.1880A>G ENSP00000506935.1:p.Gln627Arg
ENST00000684593.1:c.*1744A>G ENSP00000507005.1:n.*1744A>G
ENST00000684711.1:c.*435A>G ENSP00000506841.1:n.*435A>G
ENST00000302539.9:c.2039A>G ENSP00000303960.4:p.Gln680Arg
ENST00000389817.8:c.2039A>G MANE Select ENSP00000374467.4:p.Gln680Arg
ENST00000532728.6:c.1620A>G
ENST00000642271.1:c.2036A>G ENSP00000493749.1:p.Gln679Arg
ENST00000642579.1:c.120A>G
ENST00000642611.1:n.1990A>G
ENST00000642902.1:c.1874A>G
ENST00000643260.1:c.2036A>G ENSP00000494450.1:p.Gln679Arg
ENST00000643562.1:c.*15A>G ENSP00000496124.1:n.*15A>G
ENST00000644447.1:c.392A>G ENSP00000496282.1:p.Gln131Arg
ENST00000644472.1:c.*400A>G ENSP00000495378.1:n.*400A>G
ENST00000644484.1:c.*248A>G ENSP00000493558.1:n.*248A>G
ENST00000644542.1:c.*1741A>G ENSP00000495532.1:n.*1741A>G
ENST00000644649.1:c.1209A>G
ENST00000644675.1:c.*208A>G ENSP00000494567.1:n.*208A>G
ENST00000644757.1:c.*341A>G ENSP00000495085.1:n.*341A>G
ENST00000644772.1:c.2105A>G ENSP00000494321.1:p.Gln702Arg
ENST00000645076.1:c.1291A>G
ENST00000645744.1:c.*400A>G ENSP00000494564.1:n.*400A>G
ENST00000645760.1:c.2314A>G
ENST00000645884.1:c.2036A>G ENSP00000495516.1:p.Gln679Arg
ENST00000646003.1:c.*177A>G ENSP00000495259.1:n.*177A>G
ENST00000646207.1:c.*400A>G ENSP00000495025.1:n.*400A>G
ENST00000646276.1:c.*309A>G ENSP00000496070.1:n.*309A>G
ENST00000646592.1:c.1262A>G
ENST00000646902.1:c.2036A>G ENSP00000494101.1:p.Gln679Arg
ENST00000646993.1:c.*435A>G ENSP00000493720.1:n.*435A>G
ENST00000647013.1:c.2042A>G ENSP00000496741.1:n.2042A>G
ENST00000647015.1:c.1787A>G ENSP00000495389.1:p.Gln596Arg
ENST00000647086.1:c.*1766A>G ENSP00000493677.1:n.*1766A>G
ENST00000647158.1:c.*177A>G ENSP00000495744.1:n.*177A>G
ENST00000302539.8:c.2039A>G ENSP00000303960.4:p.Gln680Arg
ENST00000389817.7:c.2039A>G ENSP00000374467.3:p.Gln680Arg
ENST00000527905.5:c.2009A>G ENSP00000431653.1:p.Gln670Arg
NM_000352.4:c.2039A>G NP_000343.2:p.Gln680Arg
NM_001287174.1:c.2039A>G NP_001274103.1:p.Gln680Arg
XM_011520331.1:c.2036A>G XP_011518633.1:p.Gln679Arg
XM_011520332.1:c.2039A>G XP_011518634.1:p.Gln680Arg
XM_011520333.1:c.536A>G XP_011518635.1:p.Gln179Arg
XM_011520334.1:c.2039A>G XP_011518636.1:p.Gln680Arg
XR_930890.1:n.2102A>G
XR_930891.1:n.2102A>G
XR_930892.1:n.2102A>G
XR_930893.1:n.2102A>G
NM_001351295.1:c.2105A>G NP_001338224.1:p.Gln702Arg
NM_001351296.1:c.2036A>G NP_001338225.1:p.Gln679Arg
NM_001351297.1:c.2036A>G NP_001338226.1:p.Gln679Arg
NR_147094.1:n.2105A>G
XM_017018197.2:c.2105A>G XP_016873686.1:p.Gln702Arg
XM_017018199.1:c.2102A>G XP_016873688.1:p.Gln701Arg
XM_017018201.2:c.2105A>G XP_016873690.1:p.Gln702Arg
XM_017018202.1:c.602A>G XP_016873691.1:p.Gln201Arg
XM_017018204.1:c.-5A>G XP_016873693.1:n.-5A>G
XM_024448668.1:c.404A>G XP_024304436.1:p.Gln135Arg
XR_001747945.2:n.2177A>G
XR_001747946.2:n.2111A>G
XR_002957189.1:n.2177A>G
NM_000352.6:c.2039A>G MANE Select NP_000343.2:p.Gln680Arg
NM_001287174.2:c.2039A>G NP_001274103.1:p.Gln680Arg
NM_001351295.2:c.2105A>G NP_001338224.1:p.Gln702Arg
NM_001351296.2:c.2036A>G NP_001338225.1:p.Gln679Arg
NM_001351297.2:c.2036A>G NP_001338226.1:p.Gln679Arg
NR_147094.2:n.2105A>G
NM_001287174.3:c.2039A>G NP_001274103.1:p.Gln680Arg