Canonical Allele Identifier: CA1955128539
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406776C= , CM000673.2:g.17406776C= GRCh38
NC_000011.9:g.17428323C= , CM000673.1:g.17428323C= GRCh37
NC_000011.8:g.17384899C= NCBI36
NG_008867.1:g.75127G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2744G=
ENST00000529967.6:n.1514G=
ENST00000532220.2:n.907G=
ENST00000642611.2:n.3244G=
ENST00000645004.2:n.674G=
ENST00000682051.1:n.3191G=
ENST00000682110.1:n.3244G=
ENST00000682140.1:c.3172G= ENSP00000507829.1:p.Asp1058=
ENST00000682185.1:n.4480G=
ENST00000682204.1:c.*1313G= ENSP00000507094.1:n.*1313G=
ENST00000682215.1:n.3241G=
ENST00000682288.1:c.*1606G= ENSP00000507506.1:n.*1606G=
ENST00000682442.1:n.3464G=
ENST00000682528.1:n.3321G=
ENST00000682673.1:n.3188G=
ENST00000682805.1:n.3241G=
ENST00000682965.1:c.3172G= ENSP00000508229.1:p.Asp1058=
ENST00000683093.1:n.3343G=
ENST00000683136.1:c.3172G= ENSP00000507768.1:p.Asp1058=
ENST00000683153.1:n.3400G=
ENST00000683365.1:n.3346G=
ENST00000683377.1:n.3244G=
ENST00000683456.1:c.*312G= ENSP00000508318.1:n.*312G=
ENST00000683522.1:n.3244G=
ENST00000683562.1:c.*1344G= ENSP00000508265.1:n.*1344G=
ENST00000683693.1:n.3321G=
ENST00000683725.1:c.3175G= ENSP00000507496.1:p.Asp1059=
ENST00000684010.1:n.3239G=
ENST00000684157.1:n.3244G=
ENST00000684253.1:n.3147G=
ENST00000684288.1:c.*1347G= ENSP00000507143.1:n.*1347G=
ENST00000684313.1:n.2676G=
ENST00000684332.1:n.3317G=
ENST00000684371.1:n.3350G=
ENST00000684404.1:n.3287G=
ENST00000684442.1:n.3244G=
ENST00000684555.1:c.*1387G= ENSP00000507705.1:n.*1387G=
ENST00000684571.1:c.3016G= ENSP00000506935.1:p.Asp1006=
ENST00000684593.1:c.*2880G= ENSP00000507005.1:n.*2880G=
ENST00000684711.1:c.*1571G= ENSP00000506841.1:n.*1571G=
ENST00000302539.9:c.3178G= ENSP00000303960.4:p.Asp1060=
ENST00000389817.8:c.3175G= MANE Select ENSP00000374467.4:p.Asp1059=
ENST00000642271.1:c.3172G= ENSP00000493749.1:p.Asp1058=
ENST00000642579.1:c.1259G=
ENST00000642611.1:n.3129G=
ENST00000642902.1:c.2957G=
ENST00000643260.1:c.3175G= ENSP00000494450.1:p.Asp1059=
ENST00000643562.1:c.*1151G= ENSP00000496124.1:n.*1151G=
ENST00000643925.1:c.1299G=
ENST00000644447.1:c.1531G= ENSP00000496282.1:p.Asp511=
ENST00000644484.1:c.*1430G= ENSP00000493558.1:n.*1430G=
ENST00000644542.1:c.*2979G= ENSP00000495532.1:n.*2979G=
ENST00000644675.1:c.*1347G= ENSP00000494567.1:n.*1347G=
ENST00000644757.1:c.*1460G= ENSP00000495085.1:n.*1460G=
ENST00000644772.1:c.3241G= ENSP00000494321.1:p.Asp1081=
ENST00000645004.1:n.314G=
ENST00000645076.1:c.2374G=
ENST00000645417.1:c.341G=
ENST00000645744.1:c.*1439G= ENSP00000494564.1:n.*1439G=
ENST00000645760.1:c.3450G=
ENST00000645884.1:c.*312G= ENSP00000495516.1:n.*312G=
ENST00000646003.1:c.*1131G= ENSP00000495259.1:n.*1131G=
ENST00000646207.1:c.*1642G= ENSP00000495025.1:n.*1642G=
ENST00000646276.1:c.*1448G= ENSP00000496070.1:n.*1448G=
ENST00000646592.1:c.2481G=
ENST00000646902.1:c.3172G= ENSP00000494101.1:p.Asp1058=
ENST00000646993.1:c.*1571G= ENSP00000493720.1:n.*1571G=
ENST00000647013.1:c.3181G= ENSP00000496741.1:n.3181G=
ENST00000647015.1:c.2926G= ENSP00000495389.1:p.Asp976=
ENST00000647086.1:c.*2905G= ENSP00000493677.1:n.*2905G=
ENST00000647158.1:c.*1316G= ENSP00000495744.1:n.*1316G=
ENST00000302539.8:c.3178G= ENSP00000303960.4:p.Asp1060=
ENST00000389817.7:c.3175G= ENSP00000374467.3:p.Asp1059=
ENST00000524561.1:n.307G=
ENST00000526921.5:n.859G=
ENST00000527905.5:c.*51G= ENSP00000431653.1:n.*51G=
NM_000352.4:c.3175G= NP_000343.2:p.Asp1059=
NM_001287174.1:c.3178G= NP_001274103.1:p.Asp1060=
XM_011520331.1:c.3175G= XP_011518633.1:p.Asp1059=
XM_011520332.1:c.3178G= XP_011518634.1:p.Asp1060=
XM_011520333.1:c.1675G= XP_011518635.1:p.Asp559=
XR_930890.1:n.3241G=
XR_930891.1:n.3241G=
XR_930892.1:n.3141G=
XR_930893.1:n.3138G=
NM_001351295.1:c.3241G= NP_001338224.1:p.Asp1081=
NM_001351296.1:c.3175G= NP_001338225.1:p.Asp1059=
NM_001351297.1:c.3172G= NP_001338226.1:p.Asp1058=
NR_147094.1:n.3324G=
XM_017018197.2:c.3244G= XP_016873686.1:p.Asp1082=
XM_017018199.1:c.3241G= XP_016873688.1:p.Asp1081=
XM_017018201.2:c.3244G= XP_016873690.1:p.Asp1082=
XM_017018202.1:c.1741G= XP_016873691.1:p.Asp581=
XM_017018204.1:c.1132G= XP_016873693.1:p.Asp378=
XM_024448668.1:c.1543G= XP_024304436.1:p.Asp515=
XR_001747945.2:n.3316G=
XR_001747946.2:n.3247G=
XR_002957189.1:n.3396G=
NM_000352.6:c.3175G= MANE Select NP_000343.2:p.Asp1059=
NM_001287174.2:c.3178G= NP_001274103.1:p.Asp1060=
NM_001351295.2:c.3241G= NP_001338224.1:p.Asp1081=
NM_001351296.2:c.3175G= NP_001338225.1:p.Asp1059=
NM_001351297.2:c.3172G= NP_001338226.1:p.Asp1058=
NR_147094.2:n.3324G=
NM_001287174.3:c.3178G= NP_001274103.1:p.Asp1060=