Canonical Allele Identifier: CA379805429
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1954647279

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408487T>C , CM000673.2:g.17408487T>C GRCh38
NC_000011.9:g.17430034T>C , CM000673.1:g.17430034T>C GRCh37
NC_000011.8:g.17386610T>C NCBI36
NG_008867.1:g.73416A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2394A>G
ENST00000529967.6:n.984A>G
ENST00000532220.2:n.457A>G
ENST00000642611.2:n.2794A>G
ENST00000682051.1:n.2741A>G
ENST00000682110.1:n.2794A>G
ENST00000682140.1:c.2722A>G ENSP00000507829.1:p.Arg908Gly
ENST00000682185.1:n.4030A>G
ENST00000682204.1:c.*863A>G ENSP00000507094.1:n.*863A>G
ENST00000682215.1:n.2791A>G
ENST00000682288.1:c.*1156A>G ENSP00000507506.1:n.*1156A>G
ENST00000682442.1:n.2915A>G
ENST00000682528.1:n.2791A>G
ENST00000682673.1:n.2738A>G
ENST00000682805.1:n.2791A>G
ENST00000682965.1:c.2722A>G ENSP00000508229.1:p.Arg908Gly
ENST00000683093.1:n.2893A>G
ENST00000683136.1:c.2722A>G ENSP00000507768.1:p.Arg908Gly
ENST00000683153.1:n.2950A>G
ENST00000683365.1:n.2896A>G
ENST00000683377.1:n.2794A>G
ENST00000683456.1:c.2725A>G ENSP00000508318.1:p.Arg909Gly
ENST00000683522.1:n.2794A>G
ENST00000683562.1:c.*894A>G ENSP00000508265.1:n.*894A>G
ENST00000683693.1:n.2791A>G
ENST00000683725.1:c.2725A>G ENSP00000507496.1:p.Arg909Gly
ENST00000684010.1:n.2709A>G
ENST00000684157.1:n.2794A>G
ENST00000684253.1:n.2697A>G
ENST00000684288.1:c.*897A>G ENSP00000507143.1:n.*897A>G
ENST00000684313.1:n.2226A>G
ENST00000684332.1:n.2867A>G
ENST00000684371.1:n.2900A>G
ENST00000684404.1:n.2791A>G
ENST00000684442.1:n.2794A>G
ENST00000684555.1:c.*937A>G ENSP00000507705.1:n.*937A>G
ENST00000684571.1:c.2566A>G ENSP00000506935.1:p.Arg856Gly
ENST00000684593.1:c.*2430A>G ENSP00000507005.1:n.*2430A>G
ENST00000684711.1:c.*1121A>G ENSP00000506841.1:n.*1121A>G
ENST00000302539.9:c.2728A>G ENSP00000303960.4:p.Arg910Gly
ENST00000389817.8:c.2725A>G MANE Select ENSP00000374467.4:p.Arg909Gly
ENST00000642271.1:c.2722A>G ENSP00000493749.1:p.Arg908Gly
ENST00000642579.1:c.809A>G
ENST00000642611.1:n.2679A>G
ENST00000642902.1:c.2560A>G
ENST00000643260.1:c.2725A>G ENSP00000494450.1:p.Arg909Gly
ENST00000643562.1:c.*701A>G ENSP00000496124.1:n.*701A>G
ENST00000643925.1:c.769A>G
ENST00000644447.1:c.1081A>G ENSP00000496282.1:p.Arg361Gly
ENST00000644472.1:c.*1086A>G ENSP00000495378.1:n.*1086A>G
ENST00000644484.1:c.*934A>G ENSP00000493558.1:n.*934A>G
ENST00000644542.1:c.*2430A>G ENSP00000495532.1:n.*2430A>G
ENST00000644675.1:c.*897A>G ENSP00000494567.1:n.*897A>G
ENST00000644757.1:c.*1030A>G ENSP00000495085.1:n.*1030A>G
ENST00000644772.1:c.2791A>G ENSP00000494321.1:p.Arg931Gly
ENST00000645076.1:c.1977A>G
ENST00000645744.1:c.*1089A>G ENSP00000494564.1:n.*1089A>G
ENST00000645760.1:c.3000A>G
ENST00000645884.1:c.2725A>G ENSP00000495516.1:p.Arg909Gly
ENST00000646003.1:c.*781A>G ENSP00000495259.1:n.*781A>G
ENST00000646207.1:c.*1089A>G ENSP00000495025.1:n.*1089A>G
ENST00000646276.1:c.*998A>G ENSP00000496070.1:n.*998A>G
ENST00000646592.1:c.1951A>G
ENST00000646902.1:c.2722A>G ENSP00000494101.1:p.Arg908Gly
ENST00000646993.1:c.*1121A>G ENSP00000493720.1:n.*1121A>G
ENST00000647013.1:c.2731A>G ENSP00000496741.1:n.2731A>G
ENST00000647015.1:c.2476A>G ENSP00000495389.1:p.Arg826Gly
ENST00000647086.1:c.*2455A>G ENSP00000493677.1:n.*2455A>G
ENST00000647158.1:c.*866A>G ENSP00000495744.1:n.*866A>G
ENST00000302539.8:c.2728A>G ENSP00000303960.4:p.Arg910Gly
ENST00000389817.7:c.2725A>G ENSP00000374467.3:p.Arg909Gly
ENST00000526921.5:n.409A>G
ENST00000527905.5:c.2695A>G ENSP00000431653.1:p.Arg899Gly
ENST00000529967.5:n.394A>G
NM_000352.4:c.2725A>G NP_000343.2:p.Arg909Gly
NM_001287174.1:c.2728A>G NP_001274103.1:p.Arg910Gly
XM_011520331.1:c.2725A>G XP_011518633.1:p.Arg909Gly
XM_011520332.1:c.2728A>G XP_011518634.1:p.Arg910Gly
XM_011520333.1:c.1225A>G XP_011518635.1:p.Arg409Gly
XM_011520334.1:c.2728A>G XP_011518636.1:p.Arg910Gly
XR_930890.1:n.2791A>G
XR_930891.1:n.2791A>G
XR_930892.1:n.2791A>G
XR_930893.1:n.2788A>G
NM_001351295.1:c.2791A>G NP_001338224.1:p.Arg931Gly
NM_001351296.1:c.2725A>G NP_001338225.1:p.Arg909Gly
NM_001351297.1:c.2722A>G NP_001338226.1:p.Arg908Gly
NR_147094.1:n.2794A>G
XM_017018197.2:c.2794A>G XP_016873686.1:p.Arg932Gly
XM_017018199.1:c.2791A>G XP_016873688.1:p.Arg931Gly
XM_017018201.2:c.2794A>G XP_016873690.1:p.Arg932Gly
XM_017018202.1:c.1291A>G XP_016873691.1:p.Arg431Gly
XM_017018204.1:c.682A>G XP_016873693.1:p.Arg228Gly
XM_024448668.1:c.1093A>G XP_024304436.1:p.Arg365Gly
XR_001747945.2:n.2866A>G
XR_001747946.2:n.2797A>G
XR_002957189.1:n.2866A>G
NM_000352.6:c.2725A>G MANE Select NP_000343.2:p.Arg909Gly
NM_001287174.2:c.2728A>G NP_001274103.1:p.Arg910Gly
NM_001351295.2:c.2791A>G NP_001338224.1:p.Arg931Gly
NM_001351296.2:c.2725A>G NP_001338225.1:p.Arg909Gly
NM_001351297.2:c.2722A>G NP_001338226.1:p.Arg908Gly
NR_147094.2:n.2794A>G
NM_001287174.3:c.2728A>G NP_001274103.1:p.Arg910Gly