Canonical Allele Identifier: CA1955128649
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406951C= , CM000673.2:g.17406951C= GRCh38
NC_000011.9:g.17428498C= , CM000673.1:g.17428498C= GRCh37
NC_000011.8:g.17385074C= NCBI36
NG_008867.1:g.74952G=

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2668G=
ENST00000529967.6:n.1438G=
ENST00000532220.2:n.831G=
ENST00000642611.2:n.3168G=
ENST00000645004.2:n.598G=
ENST00000682051.1:n.3115G=
ENST00000682110.1:n.3168G=
ENST00000682140.1:c.3096G= ENSP00000507829.1:p.Leu1032=
ENST00000682185.1:n.4404G=
ENST00000682204.1:c.*1237G= ENSP00000507094.1:n.*1237G=
ENST00000682215.1:n.3165G=
ENST00000682288.1:c.*1530G= ENSP00000507506.1:n.*1530G=
ENST00000682442.1:n.3289G=
ENST00000682528.1:n.3245G=
ENST00000682673.1:n.3112G=
ENST00000682805.1:n.3165G=
ENST00000682965.1:c.3096G= ENSP00000508229.1:p.Leu1032=
ENST00000683093.1:n.3267G=
ENST00000683136.1:c.3096G= ENSP00000507768.1:p.Leu1032=
ENST00000683153.1:n.3324G=
ENST00000683365.1:n.3270G=
ENST00000683377.1:n.3168G=
ENST00000683456.1:c.*236G= ENSP00000508318.1:n.*236G=
ENST00000683522.1:n.3168G=
ENST00000683562.1:c.*1268G= ENSP00000508265.1:n.*1268G=
ENST00000683693.1:n.3245G=
ENST00000683725.1:c.3099G= ENSP00000507496.1:p.Leu1033=
ENST00000684010.1:n.3163G=
ENST00000684157.1:n.3168G=
ENST00000684253.1:n.3071G=
ENST00000684288.1:c.*1271G= ENSP00000507143.1:n.*1271G=
ENST00000684313.1:n.2600G=
ENST00000684332.1:n.3241G=
ENST00000684371.1:n.3274G=
ENST00000684404.1:n.3211G=
ENST00000684442.1:n.3168G=
ENST00000684555.1:c.*1311G= ENSP00000507705.1:n.*1311G=
ENST00000684571.1:c.2940G= ENSP00000506935.1:p.Leu980=
ENST00000684593.1:c.*2804G= ENSP00000507005.1:n.*2804G=
ENST00000684711.1:c.*1495G= ENSP00000506841.1:n.*1495G=
ENST00000302539.9:c.3102G= ENSP00000303960.4:p.Leu1034=
ENST00000389817.8:c.3099G= MANE Select ENSP00000374467.4:p.Leu1033=
ENST00000642271.1:c.3096G= ENSP00000493749.1:p.Leu1032=
ENST00000642579.1:c.1183G=
ENST00000642611.1:n.3053G=
ENST00000642902.1:c.2881G=
ENST00000643260.1:c.3099G= ENSP00000494450.1:p.Leu1033=
ENST00000643562.1:c.*1075G= ENSP00000496124.1:n.*1075G=
ENST00000643925.1:c.1223G=
ENST00000644447.1:c.1455G= ENSP00000496282.1:p.Leu485=
ENST00000644484.1:c.*1354G= ENSP00000493558.1:n.*1354G=
ENST00000644542.1:c.*2804G= ENSP00000495532.1:n.*2804G=
ENST00000644675.1:c.*1271G= ENSP00000494567.1:n.*1271G=
ENST00000644757.1:c.*1384G= ENSP00000495085.1:n.*1384G=
ENST00000644772.1:c.3165G= ENSP00000494321.1:p.Leu1055=
ENST00000645004.1:n.238G=
ENST00000645076.1:c.2298G=
ENST00000645417.1:c.265G=
ENST00000645744.1:c.*1363G= ENSP00000494564.1:n.*1363G=
ENST00000645760.1:c.3374G=
ENST00000645884.1:c.*236G= ENSP00000495516.1:n.*236G=
ENST00000646003.1:c.*1055G= ENSP00000495259.1:n.*1055G=
ENST00000646207.1:c.*1566G= ENSP00000495025.1:n.*1566G=
ENST00000646276.1:c.*1372G= ENSP00000496070.1:n.*1372G=
ENST00000646592.1:c.2405G=
ENST00000646902.1:c.3096G= ENSP00000494101.1:p.Leu1032=
ENST00000646993.1:c.*1495G= ENSP00000493720.1:n.*1495G=
ENST00000647013.1:c.3105G= ENSP00000496741.1:n.3105G=
ENST00000647015.1:c.2850G= ENSP00000495389.1:p.Leu950=
ENST00000647086.1:c.*2829G= ENSP00000493677.1:n.*2829G=
ENST00000647158.1:c.*1240G= ENSP00000495744.1:n.*1240G=
ENST00000302539.8:c.3102G= ENSP00000303960.4:p.Leu1034=
ENST00000389817.7:c.3099G= ENSP00000374467.3:p.Leu1033=
ENST00000524561.1:n.231G=
ENST00000526921.5:n.783G=
ENST00000527905.5:c.2969G= ENSP00000431653.1:p.Trp990=
ENST00000529967.5:n.768G=
NM_000352.4:c.3099G= NP_000343.2:p.Leu1033=
NM_001287174.1:c.3102G= NP_001274103.1:p.Leu1034=
XM_011520331.1:c.3099G= XP_011518633.1:p.Leu1033=
XM_011520332.1:c.3102G= XP_011518634.1:p.Leu1034=
XM_011520333.1:c.1599G= XP_011518635.1:p.Leu533=
XR_930890.1:n.3165G=
XR_930891.1:n.3165G=
XR_930892.1:n.3065G=
XR_930893.1:n.3062G=
NM_001351295.1:c.3165G= NP_001338224.1:p.Leu1055=
NM_001351296.1:c.3099G= NP_001338225.1:p.Leu1033=
NM_001351297.1:c.3096G= NP_001338226.1:p.Leu1032=
NR_147094.1:n.3248G=
XM_017018197.2:c.3168G= XP_016873686.1:p.Leu1056=
XM_017018199.1:c.3165G= XP_016873688.1:p.Leu1055=
XM_017018201.2:c.3168G= XP_016873690.1:p.Leu1056=
XM_017018202.1:c.1665G= XP_016873691.1:p.Leu555=
XM_017018204.1:c.1056G= XP_016873693.1:p.Leu352=
XM_024448668.1:c.1467G= XP_024304436.1:p.Leu489=
XR_001747945.2:n.3240G=
XR_001747946.2:n.3171G=
XR_002957189.1:n.3320G=
NM_000352.6:c.3099G= MANE Select NP_000343.2:p.Leu1033=
NM_001287174.2:c.3102G= NP_001274103.1:p.Leu1034=
NM_001351295.2:c.3165G= NP_001338224.1:p.Leu1055=
NM_001351296.2:c.3099G= NP_001338225.1:p.Leu1033=
NM_001351297.2:c.3096G= NP_001338226.1:p.Leu1032=
NR_147094.2:n.3248G=
NM_001287174.3:c.3102G= NP_001274103.1:p.Leu1034=