Canonical Allele Identifier: CA379790194

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396923C>A , CM000673.2:g.17396923C>A	GRCh38
NC_000011.9:g.17418470C>A , CM000673.1:g.17418470C>A	GRCh37
NC_000011.8:g.17375046C>A	NCBI36
NG_008867.1:g.84980G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4112G>T MANE Select	NP_000343.2:p.Gly1371Val
ENST00000389817.8:c.4112G>T MANE Select	ENSP00000374467.4:p.Gly1371Val
NM_000352.4:c.4112G>T	NP_000343.2:p.Gly1371Val
NM_001287174.1:c.4115G>T	NP_001274103.1:p.Gly1372Val
NM_001287174.2:c.4115G>T	NP_001274103.1:p.Gly1372Val
NM_001287174.3:c.4115G>T	NP_001274103.1:p.Gly1372Val
NM_001351295.1:c.4178G>T	NP_001338224.1:p.Gly1393Val
NM_001351295.2:c.4178G>T	NP_001338224.1:p.Gly1393Val
NM_001351296.1:c.4112G>T	NP_001338225.1:p.Gly1371Val
NM_001351296.2:c.4112G>T	NP_001338225.1:p.Gly1371Val
NM_001351297.1:c.4109G>T	NP_001338226.1:p.Gly1370Val
NM_001351297.2:c.4109G>T	NP_001338226.1:p.Gly1370Val
NR_147094.1:n.4407G>T
NR_147094.2:n.4407G>T
ENST00000302539.8:c.4115G>T	ENSP00000303960.4:p.Gly1372Val
ENST00000302539.9:c.4115G>T	ENSP00000303960.4:p.Gly1372Val
ENST00000389817.7:c.4112G>T	ENSP00000374467.3:p.Gly1371Val
ENST00000524561.2:n.3713G>T
ENST00000527905.5:c.*1134G>T	ENSP00000431653.1:n.*1134G>T
ENST00000528374.1:c.594G>T
ENST00000528374.2:c.703G>T
ENST00000529967.6:n.2451G>T
ENST00000532220.1:n.586G>T
ENST00000532220.2:n.2360G>T
ENST00000642271.1:c.4109G>T	ENSP00000493749.1:p.Gly1370Val
ENST00000642579.1:c.2166G>T
ENST00000642611.1:n.4212G>T
ENST00000642611.2:n.4327G>T
ENST00000642902.1:c.3894G>T
ENST00000643260.1:c.4112G>T	ENSP00000494450.1:p.Gly1371Val
ENST00000643562.1:c.*2234G>T	ENSP00000496124.1:n.*2234G>T
ENST00000643925.1:c.2752G>T
ENST00000644057.1:n.189G>T
ENST00000644057.2:n.555G>T
ENST00000644484.1:c.*2513G>T	ENSP00000493558.1:n.*2513G>T
ENST00000644675.1:c.*2284G>T	ENSP00000494567.1:n.*2284G>T
ENST00000644757.1:c.*2543G>T	ENSP00000495085.1:n.*2543G>T
ENST00000644772.1:c.4178G>T	ENSP00000494321.1:p.Gly1393Val
ENST00000645004.1:n.1767G>T
ENST00000645004.2:n.1611G>T
ENST00000645076.1:c.3311G>T
ENST00000645417.1:c.1300G>T
ENST00000645744.1:c.*2892G>T	ENSP00000494564.1:n.*2892G>T
ENST00000645760.1:c.4533G>T
ENST00000645884.1:c.*1395G>T	ENSP00000495516.1:n.*1395G>T
ENST00000646003.1:c.*2214G>T	ENSP00000495259.1:n.*2214G>T
ENST00000646207.1:c.*2949G>T	ENSP00000495025.1:n.*2949G>T
ENST00000646276.1:c.*2531G>T	ENSP00000496070.1:n.*2531G>T
ENST00000646592.1:c.3418G>T
ENST00000646902.1:c.4079G>T	ENSP00000494101.1:p.Gly1360Val
ENST00000646993.1:c.*2654G>T	ENSP00000493720.1:n.*2654G>T
ENST00000647013.1:c.4118G>T	ENSP00000496741.1:n.4118G>T
ENST00000647015.1:c.3863G>T	ENSP00000495389.1:p.Gly1288Val
ENST00000647086.1:c.*3698G>T	ENSP00000493677.1:n.*3698G>T
ENST00000647158.1:c.*2399G>T	ENSP00000495744.1:n.*2399G>T
ENST00000682051.1:n.4274G>T
ENST00000682110.1:n.4327G>T
ENST00000682140.1:c.3985+270G>T	ENSP00000507829.1:n.3985+270G>T
ENST00000682185.1:n.5417G>T
ENST00000682204.1:c.*2250G>T	ENSP00000507094.1:n.*2250G>T
ENST00000682215.1:n.4694G>T
ENST00000682288.1:c.*2543G>T	ENSP00000507506.1:n.*2543G>T
ENST00000682442.1:n.4547G>T
ENST00000682528.1:n.4404G>T
ENST00000682673.1:n.4271G>T
ENST00000682805.1:n.4694G>T
ENST00000682965.1:c.*534G>T	ENSP00000508229.1:n.*534G>T
ENST00000683093.1:n.4426G>T
ENST00000683136.1:c.3995G>T	ENSP00000507768.1:p.Gly1332Val
ENST00000683153.1:n.4369G>T
ENST00000683365.1:n.4429G>T
ENST00000683377.1:n.4327G>T
ENST00000683456.1:c.*1249G>T	ENSP00000508318.1:n.*1249G>T
ENST00000683522.1:n.4327G>T
ENST00000683562.1:c.*2281G>T	ENSP00000508265.1:n.*2281G>T
ENST00000683693.1:n.4774G>T
ENST00000683725.1:c.4112G>T	ENSP00000507496.1:p.Gly1371Val
ENST00000684010.1:n.4322G>T
ENST00000684157.1:n.4327G>T
ENST00000684253.1:n.4230G>T
ENST00000684288.1:c.*2284G>T	ENSP00000507143.1:n.*2284G>T
ENST00000684313.1:n.3759G>T
ENST00000684332.1:n.4400G>T
ENST00000684371.1:n.4433G>T
ENST00000684404.1:n.4370G>T
ENST00000684442.1:n.4551G>T
ENST00000684555.1:c.*2324G>T	ENSP00000507705.1:n.*2324G>T
ENST00000684571.1:c.3953G>T	ENSP00000506935.1:p.Gly1318Val
ENST00000684593.1:c.*3817G>T	ENSP00000507005.1:n.*3817G>T
ENST00000684711.1:c.*2508G>T	ENSP00000506841.1:n.*2508G>T
XM_011520331.1:c.4112G>T	XP_011518633.1:p.Gly1371Val
XM_011520332.1:c.4115G>T	XP_011518634.1:p.Gly1372Val
XM_011520333.1:c.2612G>T	XP_011518635.1:p.Gly871Val
XM_017018197.2:c.4181G>T	XP_016873686.1:p.Gly1394Val
XM_017018199.1:c.4178G>T	XP_016873688.1:p.Gly1393Val
XM_017018201.2:c.4181G>T	XP_016873690.1:p.Gly1394Val
XM_017018202.1:c.2678G>T	XP_016873691.1:p.Gly893Val
XM_017018204.1:c.2069G>T	XP_016873693.1:p.Gly690Val
XM_024448668.1:c.2480G>T	XP_024304436.1:p.Gly827Val
XR_001747945.2:n.4253G>T
XR_001747946.2:n.4184G>T
XR_002957189.1:n.4849G>T
XR_930890.1:n.4178G>T