Canonical Allele Identifier: CA379787795
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395863T>A , CM000673.2:g.17395863T>A GRCh38
NC_000011.9:g.17417410T>A , CM000673.1:g.17417410T>A GRCh37
NC_000011.8:g.17373986T>A NCBI36
NG_008867.1:g.86040A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3788A>T
ENST00000528374.2:c.778A>T
ENST00000529967.6:n.2526A>T
ENST00000532220.2:n.3420A>T
ENST00000642611.2:n.5387A>T
ENST00000644057.2:n.630A>T
ENST00000645004.2:n.1686A>T
ENST00000682051.1:n.4349A>T
ENST00000682110.1:n.4402A>T
ENST00000682140.1:c.4053A>T ENSP00000507829.1:p.Gly1351=
ENST00000682185.1:n.5492A>T
ENST00000682204.1:c.*2325A>T ENSP00000507094.1:n.*2325A>T
ENST00000682215.1:n.4769A>T
ENST00000682288.1:c.*2618A>T ENSP00000507506.1:n.*2618A>T
ENST00000682442.1:n.4622A>T
ENST00000682528.1:n.4479A>T
ENST00000682673.1:n.4346A>T
ENST00000682805.1:n.4807A>T
ENST00000682965.1:c.*609A>T ENSP00000508229.1:n.*609A>T
ENST00000683093.1:n.5486A>T
ENST00000683136.1:c.4070A>T ENSP00000507768.1:p.Asp1357Val
ENST00000683153.1:n.4444A>T
ENST00000683365.1:n.4504A>T
ENST00000683377.1:n.4402A>T
ENST00000683456.1:c.*1324A>T ENSP00000508318.1:n.*1324A>T
ENST00000683522.1:n.4402A>T
ENST00000683562.1:c.*2356A>T ENSP00000508265.1:n.*2356A>T
ENST00000683693.1:n.5834A>T
ENST00000683725.1:c.4187A>T ENSP00000507496.1:p.Asp1396Val
ENST00000684010.1:n.4397A>T
ENST00000684157.1:n.5387A>T
ENST00000684253.1:n.4305A>T
ENST00000684288.1:c.*2359A>T ENSP00000507143.1:n.*2359A>T
ENST00000684313.1:n.3834A>T
ENST00000684332.1:n.4475A>T
ENST00000684371.1:n.4508A>T
ENST00000684404.1:n.5430A>T
ENST00000684442.1:n.4626A>T
ENST00000684555.1:c.*2399A>T ENSP00000507705.1:n.*2399A>T
ENST00000684571.1:c.4028A>T ENSP00000506935.1:p.Asp1343Val
ENST00000684593.1:c.*3892A>T ENSP00000507005.1:n.*3892A>T
ENST00000684711.1:c.*2583A>T ENSP00000506841.1:n.*2583A>T
ENST00000302539.9:c.4190A>T ENSP00000303960.4:p.Asp1397Val
ENST00000389817.8:c.4187A>T MANE Select ENSP00000374467.4:p.Asp1396Val
ENST00000642271.1:c.4184A>T ENSP00000493749.1:p.Asp1395Val
ENST00000642579.1:c.2241A>T
ENST00000642611.1:n.5272A>T
ENST00000642902.1:c.3969A>T
ENST00000643260.1:c.4187A>T ENSP00000494450.1:p.Asp1396Val
ENST00000643562.1:c.*2309A>T ENSP00000496124.1:n.*2309A>T
ENST00000643925.1:c.2827A>T
ENST00000644057.1:n.264A>T
ENST00000644484.1:c.*3573A>T ENSP00000493558.1:n.*3573A>T
ENST00000644675.1:c.*2359A>T ENSP00000494567.1:n.*2359A>T
ENST00000644757.1:c.*3202+401A>T ENSP00000495085.1:n.*3202+401A>T
ENST00000644772.1:c.4253A>T ENSP00000494321.1:p.Asp1418Val
ENST00000645004.1:n.1880A>T
ENST00000645076.1:c.3386A>T
ENST00000645417.1:c.1375A>T
ENST00000645744.1:c.*3952A>T ENSP00000494564.1:n.*3952A>T
ENST00000645760.1:c.4608A>T
ENST00000645884.1:c.*1470A>T ENSP00000495516.1:n.*1470A>T
ENST00000646003.1:c.*2289A>T ENSP00000495259.1:n.*2289A>T
ENST00000646207.1:c.*3024A>T ENSP00000495025.1:n.*3024A>T
ENST00000646276.1:c.*3591A>T ENSP00000496070.1:n.*3591A>T
ENST00000646592.1:c.3493A>T
ENST00000646902.1:c.4154A>T ENSP00000494101.1:p.Asp1385Val
ENST00000646993.1:c.*2729A>T ENSP00000493720.1:n.*2729A>T
ENST00000647013.1:c.4193A>T ENSP00000496741.1:n.4193A>T
ENST00000647015.1:c.3938A>T ENSP00000495389.1:p.Asp1313Val
ENST00000647086.1:c.*3773A>T ENSP00000493677.1:n.*3773A>T
ENST00000647158.1:c.*2474A>T ENSP00000495744.1:n.*2474A>T
ENST00000302539.8:c.4190A>T ENSP00000303960.4:p.Asp1397Val
ENST00000389817.7:c.4187A>T ENSP00000374467.3:p.Asp1396Val
ENST00000525022.1:n.53A>T
ENST00000526168.5:c.55A>T
ENST00000531642.5:c.23A>T
NM_000352.4:c.4187A>T NP_000343.2:p.Asp1396Val
NM_001287174.1:c.4190A>T NP_001274103.1:p.Asp1397Val
XM_011520331.1:c.4187A>T XP_011518633.1:p.Asp1396Val
XM_011520332.1:c.4190A>T XP_011518634.1:p.Asp1397Val
XM_011520333.1:c.2687A>T XP_011518635.1:p.Asp896Val
XR_930890.1:n.4253A>T
NM_001351295.1:c.4253A>T NP_001338224.1:p.Asp1418Val
NM_001351296.1:c.4187A>T NP_001338225.1:p.Asp1396Val
NM_001351297.1:c.4184A>T NP_001338226.1:p.Asp1395Val
NR_147094.1:n.4482A>T
XM_017018197.2:c.4256A>T XP_016873686.1:p.Asp1419Val
XM_017018199.1:c.4253A>T XP_016873688.1:p.Asp1418Val
XM_017018201.2:c.4256A>T XP_016873690.1:p.Asp1419Val
XM_017018202.1:c.2753A>T XP_016873691.1:p.Asp918Val
XM_017018204.1:c.2144A>T XP_016873693.1:p.Asp715Val
XM_024448668.1:c.2555A>T XP_024304436.1:p.Asp852Val
XR_001747945.2:n.4328A>T
XR_001747946.2:n.4259A>T
XR_002957189.1:n.5909A>T
NM_000352.6:c.4187A>T MANE Select NP_000343.2:p.Asp1396Val
NM_001287174.2:c.4190A>T NP_001274103.1:p.Asp1397Val
NM_001351295.2:c.4253A>T NP_001338224.1:p.Asp1418Val
NM_001351296.2:c.4187A>T NP_001338225.1:p.Asp1396Val
NM_001351297.2:c.4184A>T NP_001338226.1:p.Asp1395Val
NR_147094.2:n.4482A>T
NM_001287174.3:c.4190A>T NP_001274103.1:p.Asp1397Val