Canonical Allele Identifier: CA379781943
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393717G>C , CM000673.2:g.17393717G>C GRCh38
NC_000011.9:g.17415264G>C , CM000673.1:g.17415264G>C GRCh37
NC_000011.8:g.17371840G>C NCBI36
NG_008867.1:g.88186C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4189C>G
ENST00000526037.6:n.523C>G
ENST00000528374.2:c.1179C>G
ENST00000529967.6:n.2927C>G
ENST00000532220.2:n.3821C>G
ENST00000642611.2:n.5921C>G
ENST00000644057.2:n.1164C>G
ENST00000645004.2:n.2087C>G
ENST00000682051.1:n.4750C>G
ENST00000682110.1:n.4803C>G
ENST00000682140.1:c.*374C>G ENSP00000507829.1:n.*374C>G
ENST00000682185.1:n.5893C>G
ENST00000682204.1:c.*2726C>G ENSP00000507094.1:n.*2726C>G
ENST00000682215.1:n.5170C>G
ENST00000682288.1:c.*3019C>G ENSP00000507506.1:n.*3019C>G
ENST00000682442.1:n.5023C>G
ENST00000682528.1:n.4880C>G
ENST00000682673.1:n.4747C>G
ENST00000682805.1:n.5208C>G
ENST00000682965.1:c.*1010C>G ENSP00000508229.1:n.*1010C>G
ENST00000683093.1:n.5783C>G
ENST00000683136.1:c.4471C>G ENSP00000507768.1:p.Arg1491Gly
ENST00000683153.1:n.4845C>G
ENST00000683365.1:n.4905C>G
ENST00000683377.1:n.4699C>G
ENST00000683456.1:c.*1725C>G ENSP00000508318.1:n.*1725C>G
ENST00000683522.1:n.4885C>G
ENST00000683562.1:c.*2653C>G ENSP00000508265.1:n.*2653C>G
ENST00000683693.1:n.6264C>G
ENST00000683725.1:c.*53C>G ENSP00000507496.1:n.*53C>G
ENST00000684010.1:n.4798C>G
ENST00000684014.1:n.775C>G
ENST00000684157.1:n.5788C>G
ENST00000684253.1:n.4706C>G
ENST00000684288.1:c.*2760C>G ENSP00000507143.1:n.*2760C>G
ENST00000684313.1:n.4235C>G
ENST00000684332.1:n.4876C>G
ENST00000684371.1:n.4909C>G
ENST00000684404.1:n.5831C>G
ENST00000684442.1:n.5027C>G
ENST00000684555.1:c.*2800C>G ENSP00000507705.1:n.*2800C>G
ENST00000684571.1:c.4429C>G ENSP00000506935.1:p.Arg1477Gly
ENST00000684593.1:c.*4293C>G ENSP00000507005.1:n.*4293C>G
ENST00000684711.1:c.*2984C>G ENSP00000506841.1:n.*2984C>G
ENST00000302539.9:c.4591C>G ENSP00000303960.4:p.Arg1531Gly
ENST00000389817.8:c.4588C>G MANE Select ENSP00000374467.4:p.Arg1530Gly
ENST00000642271.1:c.4585C>G ENSP00000493749.1:p.Arg1529Gly
ENST00000642579.1:c.2642C>G
ENST00000642611.1:n.5806C>G
ENST00000642902.1:c.4370C>G
ENST00000643260.1:c.4588C>G ENSP00000494450.1:p.Arg1530Gly
ENST00000643562.1:c.*2710C>G ENSP00000496124.1:n.*2710C>G
ENST00000643925.1:c.3185+549C>G
ENST00000644057.1:n.747C>G
ENST00000644484.1:c.*3974C>G ENSP00000493558.1:n.*3974C>G
ENST00000644675.1:c.*2760C>G ENSP00000494567.1:n.*2760C>G
ENST00000644757.1:c.*3203-737C>G ENSP00000495085.1:n.*3203-737C>G
ENST00000644772.1:c.4654C>G ENSP00000494321.1:p.Arg1552Gly
ENST00000645004.1:n.2281C>G
ENST00000645076.1:c.3683C>G
ENST00000645417.1:c.1776C>G
ENST00000645744.1:c.*4273C>G ENSP00000494564.1:n.*4273C>G
ENST00000645760.1:c.5009C>G
ENST00000645884.1:c.*1871C>G ENSP00000495516.1:n.*1871C>G
ENST00000646003.1:c.*2610C>G ENSP00000495259.1:n.*2610C>G
ENST00000646207.1:c.*3425C>G ENSP00000495025.1:n.*3425C>G
ENST00000646276.1:c.*3992C>G ENSP00000496070.1:n.*3992C>G
ENST00000646592.1:c.3894C>G
ENST00000646902.1:c.4555C>G ENSP00000494101.1:p.Arg1519Gly
ENST00000646993.1:c.*3026C>G ENSP00000493720.1:n.*3026C>G
ENST00000647015.1:c.4339C>G ENSP00000495389.1:p.Arg1447Gly
ENST00000647086.1:c.*4174C>G ENSP00000493677.1:n.*4174C>G
ENST00000647158.1:c.*2875C>G ENSP00000495744.1:n.*2875C>G
ENST00000302539.8:c.4591C>G ENSP00000303960.4:p.Arg1531Gly
ENST00000389817.7:c.4588C>G ENSP00000374467.3:p.Arg1530Gly
ENST00000525022.1:n.483C>G
ENST00000526037.5:n.348C>G
ENST00000526168.5:c.376C>G
ENST00000531642.5:c.619C>G
NM_000352.4:c.4588C>G NP_000343.2:p.Arg1530Gly
NM_001287174.1:c.4591C>G NP_001274103.1:p.Arg1531Gly
XM_011520331.1:c.4588C>G XP_011518633.1:p.Arg1530Gly
XM_011520333.1:c.3088C>G XP_011518635.1:p.Arg1030Gly
XR_930890.1:n.4550C>G
NM_001351295.1:c.4654C>G NP_001338224.1:p.Arg1552Gly
NM_001351296.1:c.4588C>G NP_001338225.1:p.Arg1530Gly
NM_001351297.1:c.4585C>G NP_001338226.1:p.Arg1529Gly
NR_147094.1:n.4883C>G
XM_017018197.2:c.4657C>G XP_016873686.1:p.Arg1553Gly
XM_017018199.1:c.4654C>G XP_016873688.1:p.Arg1552Gly
XM_017018202.1:c.3154C>G XP_016873691.1:p.Arg1052Gly
XM_017018204.1:c.2545C>G XP_016873693.1:p.Arg849Gly
XM_024448668.1:c.2956C>G XP_024304436.1:p.Arg986Gly
XR_001747945.2:n.4625C>G
XR_001747946.2:n.4556C>G
XR_002957189.1:n.6339C>G
NM_000352.6:c.4588C>G MANE Select NP_000343.2:p.Arg1530Gly
NM_001287174.2:c.4591C>G NP_001274103.1:p.Arg1531Gly
NM_001351295.2:c.4654C>G NP_001338224.1:p.Arg1552Gly
NM_001351296.2:c.4588C>G NP_001338225.1:p.Arg1530Gly
NM_001351297.2:c.4585C>G NP_001338226.1:p.Arg1529Gly
NR_147094.2:n.4883C>G
NM_001287174.3:c.4591C>G NP_001274103.1:p.Arg1531Gly