Canonical Allele Identifier: CA1955121984
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393081C= , CM000673.2:g.17393081C= GRCh38
NC_000011.9:g.17414628C= , CM000673.1:g.17414628C= GRCh37
NC_000011.8:g.17371204C= NCBI36
NG_008867.1:g.88822G=
NG_012446.1:g.579G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4257G=
ENST00000526037.6:n.591G=
ENST00000528374.2:c.1247G=
ENST00000529967.6:n.2995G=
ENST00000532220.2:n.3889G=
ENST00000642611.2:n.5989G=
ENST00000644057.2:n.1232G=
ENST00000645004.2:n.2155G=
ENST00000682051.1:n.4818G=
ENST00000682110.1:n.4871G=
ENST00000682140.1:c.*442G= ENSP00000507829.1:n.*442G=
ENST00000682185.1:n.5961G=
ENST00000682204.1:c.*2794G= ENSP00000507094.1:n.*2794G=
ENST00000682215.1:n.5238G=
ENST00000682288.1:c.*3087G= ENSP00000507506.1:n.*3087G=
ENST00000682442.1:n.5091G=
ENST00000682528.1:n.4948G=
ENST00000682673.1:n.4815G=
ENST00000682805.1:n.5276G=
ENST00000682965.1:c.*1078G= ENSP00000508229.1:n.*1078G=
ENST00000683093.1:n.5851G=
ENST00000683136.1:c.4539G= ENSP00000507768.1:p.Lys1513=
ENST00000683153.1:n.4913G=
ENST00000683365.1:n.4973G=
ENST00000683377.1:n.4767G=
ENST00000683456.1:c.*1793G= ENSP00000508318.1:n.*1793G=
ENST00000683522.1:n.4953G=
ENST00000683562.1:c.*2721G= ENSP00000508265.1:n.*2721G=
ENST00000683693.1:n.6332G=
ENST00000683725.1:c.*121G= ENSP00000507496.1:n.*121G=
ENST00000684010.1:n.4866G=
ENST00000684014.1:n.843G=
ENST00000684157.1:n.5856G=
ENST00000684253.1:n.4774G=
ENST00000684288.1:c.*2828G= ENSP00000507143.1:n.*2828G=
ENST00000684313.1:n.4303G=
ENST00000684332.1:n.4944G=
ENST00000684371.1:n.4977G=
ENST00000684404.1:n.5899G=
ENST00000684442.1:n.5095G=
ENST00000684555.1:c.*2868G= ENSP00000507705.1:n.*2868G=
ENST00000684571.1:c.4497G= ENSP00000506935.1:p.Lys1499=
ENST00000684593.1:c.*4361G= ENSP00000507005.1:n.*4361G=
ENST00000684711.1:c.*3052G= ENSP00000506841.1:n.*3052G=
ENST00000302539.9:c.4659G= ENSP00000303960.4:p.Lys1553=
ENST00000389817.8:c.4656G= MANE Select ENSP00000374467.4:p.Lys1552=
ENST00000642271.1:c.4653G= ENSP00000493749.1:p.Lys1551=
ENST00000642579.1:c.2710G=
ENST00000642611.1:n.5874G=
ENST00000642902.1:c.4438G=
ENST00000643260.1:c.4656G= ENSP00000494450.1:p.Lys1552=
ENST00000643562.1:c.*2778G= ENSP00000496124.1:n.*2778G=
ENST00000643925.1:c.3233G=
ENST00000644057.1:n.815G=
ENST00000644484.1:c.*4042G= ENSP00000493558.1:n.*4042G=
ENST00000644675.1:c.*2828G= ENSP00000494567.1:n.*2828G=
ENST00000644757.1:c.*3203-101G= ENSP00000495085.1:n.*3203-101G=
ENST00000644772.1:c.4722G= ENSP00000494321.1:p.Lys1574=
ENST00000645004.1:n.2349G=
ENST00000645076.1:c.3751G=
ENST00000645417.1:c.1844G=
ENST00000645760.1:c.5077G=
ENST00000645884.1:c.*1939G= ENSP00000495516.1:n.*1939G=
ENST00000646003.1:c.*2678G= ENSP00000495259.1:n.*2678G=
ENST00000646207.1:c.*3493G= ENSP00000495025.1:n.*3493G=
ENST00000646276.1:c.*4060G= ENSP00000496070.1:n.*4060G=
ENST00000646592.1:c.3962G=
ENST00000646902.1:c.4623G= ENSP00000494101.1:p.Lys1541=
ENST00000646993.1:c.*3094G= ENSP00000493720.1:n.*3094G=
ENST00000647015.1:c.4407G= ENSP00000495389.1:p.Lys1469=
ENST00000647086.1:c.*4242G= ENSP00000493677.1:n.*4242G=
ENST00000647158.1:c.*2943G= ENSP00000495744.1:n.*2943G=
ENST00000302539.8:c.4659G= ENSP00000303960.4:p.Lys1553=
ENST00000389817.7:c.4656G= ENSP00000374467.3:p.Lys1552=
ENST00000525022.1:n.635G=
ENST00000526037.5:n.416G=
ENST00000526168.5:c.444G=
ENST00000531642.5:c.687G=
NM_000352.4:c.4656G= NP_000343.2:p.Lys1552=
NM_001287174.1:c.4659G= NP_001274103.1:p.Lys1553=
XM_011520331.1:c.4656G= XP_011518633.1:p.Lys1552=
XM_011520333.1:c.3156G= XP_011518635.1:p.Lys1052=
XR_930890.1:n.4618G=
NM_001351295.1:c.4722G= NP_001338224.1:p.Lys1574=
NM_001351296.1:c.4656G= NP_001338225.1:p.Lys1552=
NM_001351297.1:c.4653G= NP_001338226.1:p.Lys1551=
NR_147094.1:n.4951G=
XM_017018197.2:c.4725G= XP_016873686.1:p.Lys1575=
XM_017018199.1:c.4722G= XP_016873688.1:p.Lys1574=
XM_017018202.1:c.3222G= XP_016873691.1:p.Lys1074=
XM_017018204.1:c.2613G= XP_016873693.1:p.Lys871=
XM_024448668.1:c.3024G= XP_024304436.1:p.Lys1008=
XR_001747945.2:n.4693G=
XR_001747946.2:n.4624G=
XR_002957189.1:n.6407G=
NM_000352.6:c.4656G= MANE Select NP_000343.2:p.Lys1552=
NM_001287174.2:c.4659G= NP_001274103.1:p.Lys1553=
NM_001351295.2:c.4722G= NP_001338224.1:p.Lys1574=
NM_001351296.2:c.4656G= NP_001338225.1:p.Lys1552=
NM_001351297.2:c.4653G= NP_001338226.1:p.Lys1551=
NR_147094.2:n.4951G=
NM_001287174.3:c.4659G= NP_001274103.1:p.Lys1553=