Canonical Allele Identifier: CA379804407

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428672C>A (hg19) ; chr11:g.17407125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407125C>A , CM000673.2:g.17407125C>A	GRCh38
NC_000011.9:g.17428672C>A , CM000673.1:g.17428672C>A	GRCh37
NC_000011.8:g.17385248C>A	NCBI36
NG_008867.1:g.74778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2494G>T
ENST00000529967.6:n.1264G>T
ENST00000532220.2:n.657G>T
ENST00000642611.2:n.2994G>T
ENST00000645004.2:n.424G>T
ENST00000682051.1:n.2941G>T
ENST00000682110.1:n.2994G>T
ENST00000682140.1:c.2922G>T	ENSP00000507829.1:p.Glu974Asp
ENST00000682185.1:n.4230G>T
ENST00000682204.1:c.*1063G>T	ENSP00000507094.1:n.*1063G>T
ENST00000682215.1:n.2991G>T
ENST00000682288.1:c.*1356G>T	ENSP00000507506.1:n.*1356G>T
ENST00000682442.1:n.3115G>T
ENST00000682528.1:n.3071G>T
ENST00000682673.1:n.2938G>T
ENST00000682805.1:n.2991G>T
ENST00000682965.1:c.2922G>T	ENSP00000508229.1:p.Glu974Asp
ENST00000683093.1:n.3093G>T
ENST00000683136.1:c.2922G>T	ENSP00000507768.1:p.Glu974Asp
ENST00000683153.1:n.3150G>T
ENST00000683365.1:n.3096G>T
ENST00000683377.1:n.2994G>T
ENST00000683456.1:c.*62G>T	ENSP00000508318.1:n.*62G>T
ENST00000683522.1:n.2994G>T
ENST00000683562.1:c.*1094G>T	ENSP00000508265.1:n.*1094G>T
ENST00000683693.1:n.3071G>T
ENST00000683725.1:c.2925G>T	ENSP00000507496.1:p.Glu975Asp
ENST00000684010.1:n.2989G>T
ENST00000684157.1:n.2994G>T
ENST00000684253.1:n.2897G>T
ENST00000684288.1:c.*1097G>T	ENSP00000507143.1:n.*1097G>T
ENST00000684313.1:n.2426G>T
ENST00000684332.1:n.3067G>T
ENST00000684371.1:n.3100G>T
ENST00000684404.1:n.3037G>T
ENST00000684442.1:n.2994G>T
ENST00000684555.1:c.*1137G>T	ENSP00000507705.1:n.*1137G>T
ENST00000684571.1:c.2766G>T	ENSP00000506935.1:p.Glu922Asp
ENST00000684593.1:c.*2630G>T	ENSP00000507005.1:n.*2630G>T
ENST00000684711.1:c.*1321G>T	ENSP00000506841.1:n.*1321G>T
ENST00000302539.9:c.2928G>T	ENSP00000303960.4:p.Glu976Asp
ENST00000389817.8:c.2925G>T MANE Select	ENSP00000374467.4:p.Glu975Asp
ENST00000642271.1:c.2922G>T	ENSP00000493749.1:p.Glu974Asp
ENST00000642579.1:c.1009G>T
ENST00000642611.1:n.2879G>T
ENST00000642902.1:c.2756-49G>T
ENST00000643260.1:c.2925G>T	ENSP00000494450.1:p.Glu975Asp
ENST00000643562.1:c.*901G>T	ENSP00000496124.1:n.*901G>T
ENST00000643925.1:c.1049G>T
ENST00000644447.1:c.1281G>T	ENSP00000496282.1:p.Glu427Asp
ENST00000644484.1:c.*1180G>T	ENSP00000493558.1:n.*1180G>T
ENST00000644542.1:c.*2630G>T	ENSP00000495532.1:n.*2630G>T
ENST00000644675.1:c.*1097G>T	ENSP00000494567.1:n.*1097G>T
ENST00000644757.1:c.*1210G>T	ENSP00000495085.1:n.*1210G>T
ENST00000644772.1:c.2991G>T	ENSP00000494321.1:p.Glu997Asp
ENST00000645004.1:n.64G>T
ENST00000645076.1:c.2173-49G>T
ENST00000645417.1:c.91G>T
ENST00000645744.1:c.*1189G>T	ENSP00000494564.1:n.*1189G>T
ENST00000645760.1:c.3200G>T
ENST00000645884.1:c.*62G>T	ENSP00000495516.1:n.*62G>T
ENST00000646003.1:c.*881G>T	ENSP00000495259.1:n.*881G>T
ENST00000646207.1:c.*1392G>T	ENSP00000495025.1:n.*1392G>T
ENST00000646276.1:c.*1198G>T	ENSP00000496070.1:n.*1198G>T
ENST00000646592.1:c.2231G>T
ENST00000646902.1:c.2922G>T	ENSP00000494101.1:p.Glu974Asp
ENST00000646993.1:c.*1321G>T	ENSP00000493720.1:n.*1321G>T
ENST00000647013.1:c.2931G>T	ENSP00000496741.1:n.2931G>T
ENST00000647015.1:c.2676G>T	ENSP00000495389.1:p.Glu892Asp
ENST00000647086.1:c.*2655G>T	ENSP00000493677.1:n.*2655G>T
ENST00000647158.1:c.*1066G>T	ENSP00000495744.1:n.*1066G>T
ENST00000302539.8:c.2928G>T	ENSP00000303960.4:p.Glu976Asp
ENST00000389817.7:c.2925G>T	ENSP00000374467.3:p.Glu975Asp
ENST00000524561.1:n.57G>T
ENST00000526921.5:n.609G>T
ENST00000527905.5:c.2795G>T	ENSP00000431653.1:p.Arg932Met
ENST00000529967.5:n.594G>T
NM_000352.4:c.2925G>T	NP_000343.2:p.Glu975Asp
NM_001287174.1:c.2928G>T	NP_001274103.1:p.Glu976Asp
XM_011520331.1:c.2925G>T	XP_011518633.1:p.Glu975Asp
XM_011520332.1:c.2928G>T	XP_011518634.1:p.Glu976Asp
XM_011520333.1:c.1425G>T	XP_011518635.1:p.Glu475Asp
XR_930890.1:n.2991G>T
XR_930891.1:n.2991G>T
XR_930892.1:n.2891G>T
XR_930893.1:n.2888G>T
NM_001351295.1:c.2991G>T	NP_001338224.1:p.Glu997Asp
NM_001351296.1:c.2925G>T	NP_001338225.1:p.Glu975Asp
NM_001351297.1:c.2922G>T	NP_001338226.1:p.Glu974Asp
NR_147094.1:n.3074G>T
XM_017018197.2:c.2994G>T	XP_016873686.1:p.Glu998Asp
XM_017018199.1:c.2991G>T	XP_016873688.1:p.Glu997Asp
XM_017018201.2:c.2994G>T	XP_016873690.1:p.Glu998Asp
XM_017018202.1:c.1491G>T	XP_016873691.1:p.Glu497Asp
XM_017018204.1:c.882G>T	XP_016873693.1:p.Glu294Asp
XM_024448668.1:c.1293G>T	XP_024304436.1:p.Glu431Asp
XR_001747945.2:n.3066G>T
XR_001747946.2:n.2997G>T
XR_002957189.1:n.3146G>T
NM_000352.6:c.2925G>T MANE Select	NP_000343.2:p.Glu975Asp
NM_001287174.2:c.2928G>T	NP_001274103.1:p.Glu976Asp
NM_001351295.2:c.2991G>T	NP_001338224.1:p.Glu997Asp
NM_001351296.2:c.2925G>T	NP_001338225.1:p.Glu975Asp
NM_001351297.2:c.2922G>T	NP_001338226.1:p.Glu974Asp
NR_147094.2:n.3074G>T
NM_001287174.3:c.2928G>T	NP_001274103.1:p.Glu976Asp