Canonical Allele Identifier: CA379806387
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs1954762385

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410593G>A , CM000673.2:g.17410593G>A GRCh38
NC_000011.9:g.17432140G>A , CM000673.1:g.17432140G>A GRCh37
NC_000011.8:g.17388716G>A NCBI36
NG_008867.1:g.71310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2286C>T
ENST00000529967.6:n.876C>T
ENST00000642611.2:n.2686C>T
ENST00000682051.1:n.2633C>T
ENST00000682110.1:n.2686C>T
ENST00000682140.1:c.2614C>T ENSP00000507829.1:p.Leu872Phe
ENST00000682185.1:n.3922C>T
ENST00000682204.1:c.*755C>T ENSP00000507094.1:n.*755C>T
ENST00000682215.1:n.2683C>T
ENST00000682288.1:c.*1048C>T ENSP00000507506.1:n.*1048C>T
ENST00000682442.1:n.2807C>T
ENST00000682528.1:n.2683C>T
ENST00000682673.1:n.2630C>T
ENST00000682805.1:n.2683C>T
ENST00000682965.1:c.2614C>T ENSP00000508229.1:p.Leu872Phe
ENST00000683093.1:n.2785C>T
ENST00000683136.1:c.2614C>T ENSP00000507768.1:p.Leu872Phe
ENST00000683153.1:n.2842C>T
ENST00000683365.1:n.2788C>T
ENST00000683377.1:n.2686C>T
ENST00000683456.1:c.2617C>T ENSP00000508318.1:p.Leu873Phe
ENST00000683522.1:n.2686C>T
ENST00000683562.1:c.*786C>T ENSP00000508265.1:n.*786C>T
ENST00000683693.1:n.2683C>T
ENST00000683725.1:c.2617C>T ENSP00000507496.1:p.Leu873Phe
ENST00000684010.1:n.2601C>T
ENST00000684157.1:n.2686C>T
ENST00000684253.1:n.2589C>T
ENST00000684288.1:c.*789C>T ENSP00000507143.1:n.*789C>T
ENST00000684313.1:n.2118C>T
ENST00000684332.1:n.2759C>T
ENST00000684371.1:n.2792C>T
ENST00000684404.1:n.2683C>T
ENST00000684442.1:n.2686C>T
ENST00000684555.1:c.*829C>T ENSP00000507705.1:n.*829C>T
ENST00000684571.1:c.2458C>T ENSP00000506935.1:p.Leu820Phe
ENST00000684593.1:c.*2322C>T ENSP00000507005.1:n.*2322C>T
ENST00000684711.1:c.*1013C>T ENSP00000506841.1:n.*1013C>T
ENST00000302539.9:c.2620C>T ENSP00000303960.4:p.Leu874Phe
ENST00000389817.8:c.2617C>T MANE Select ENSP00000374467.4:p.Leu873Phe
ENST00000642271.1:c.2614C>T ENSP00000493749.1:p.Leu872Phe
ENST00000642579.1:c.701C>T
ENST00000642611.1:n.2571C>T
ENST00000642902.1:c.2452C>T
ENST00000643260.1:c.2617C>T ENSP00000494450.1:p.Leu873Phe
ENST00000643562.1:c.*593C>T ENSP00000496124.1:n.*593C>T
ENST00000643925.1:c.661C>T
ENST00000644447.1:c.973C>T ENSP00000496282.1:p.Leu325Phe
ENST00000644472.1:c.*978C>T ENSP00000495378.1:n.*978C>T
ENST00000644484.1:c.*826C>T ENSP00000493558.1:n.*826C>T
ENST00000644542.1:c.*2322C>T ENSP00000495532.1:n.*2322C>T
ENST00000644675.1:c.*789C>T ENSP00000494567.1:n.*789C>T
ENST00000644757.1:c.*922C>T ENSP00000495085.1:n.*922C>T
ENST00000644772.1:c.2683C>T ENSP00000494321.1:p.Leu895Phe
ENST00000645076.1:c.1869C>T
ENST00000645744.1:c.*981C>T ENSP00000494564.1:n.*981C>T
ENST00000645760.1:c.2892C>T
ENST00000645884.1:c.2617C>T ENSP00000495516.1:p.Leu873Phe
ENST00000646003.1:c.*673C>T ENSP00000495259.1:n.*673C>T
ENST00000646207.1:c.*981C>T ENSP00000495025.1:n.*981C>T
ENST00000646276.1:c.*890C>T ENSP00000496070.1:n.*890C>T
ENST00000646592.1:c.1843C>T
ENST00000646902.1:c.2614C>T ENSP00000494101.1:p.Leu872Phe
ENST00000646993.1:c.*1013C>T ENSP00000493720.1:n.*1013C>T
ENST00000647013.1:c.2623C>T ENSP00000496741.1:n.2623C>T
ENST00000647015.1:c.2368C>T ENSP00000495389.1:p.Leu790Phe
ENST00000647086.1:c.*2347C>T ENSP00000493677.1:n.*2347C>T
ENST00000647158.1:c.*758C>T ENSP00000495744.1:n.*758C>T
ENST00000302539.8:c.2620C>T ENSP00000303960.4:p.Leu874Phe
ENST00000389817.7:c.2617C>T ENSP00000374467.3:p.Leu873Phe
ENST00000526921.5:n.301C>T
ENST00000527905.5:c.2587C>T ENSP00000431653.1:p.Leu863Phe
ENST00000529967.5:n.286C>T
ENST00000530147.5:n.200C>T
NM_000352.4:c.2617C>T NP_000343.2:p.Leu873Phe
NM_001287174.1:c.2620C>T NP_001274103.1:p.Leu874Phe
XM_011520331.1:c.2617C>T XP_011518633.1:p.Leu873Phe
XM_011520332.1:c.2620C>T XP_011518634.1:p.Leu874Phe
XM_011520333.1:c.1117C>T XP_011518635.1:p.Leu373Phe
XM_011520334.1:c.2620C>T XP_011518636.1:p.Leu874Phe
XR_930890.1:n.2683C>T
XR_930891.1:n.2683C>T
XR_930892.1:n.2683C>T
XR_930893.1:n.2680C>T
NM_001351295.1:c.2683C>T NP_001338224.1:p.Leu895Phe
NM_001351296.1:c.2617C>T NP_001338225.1:p.Leu873Phe
NM_001351297.1:c.2614C>T NP_001338226.1:p.Leu872Phe
NR_147094.1:n.2686C>T
XM_017018197.2:c.2686C>T XP_016873686.1:p.Leu896Phe
XM_017018199.1:c.2683C>T XP_016873688.1:p.Leu895Phe
XM_017018201.2:c.2686C>T XP_016873690.1:p.Leu896Phe
XM_017018202.1:c.1183C>T XP_016873691.1:p.Leu395Phe
XM_017018204.1:c.574C>T XP_016873693.1:p.Leu192Phe
XM_024448668.1:c.985C>T XP_024304436.1:p.Leu329Phe
XR_001747945.2:n.2758C>T
XR_001747946.2:n.2689C>T
XR_002957189.1:n.2758C>T
NM_000352.6:c.2617C>T MANE Select NP_000343.2:p.Leu873Phe
NM_001287174.2:c.2620C>T NP_001274103.1:p.Leu874Phe
NM_001351295.2:c.2683C>T NP_001338224.1:p.Leu895Phe
NM_001351296.2:c.2617C>T NP_001338225.1:p.Leu873Phe
NM_001351297.2:c.2614C>T NP_001338226.1:p.Leu872Phe
NR_147094.2:n.2686C>T
NM_001287174.3:c.2620C>T NP_001274103.1:p.Leu874Phe