Canonical Allele Identifier: CA473298540

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418526G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396979G>T , CM000673.2:g.17396979G>T	GRCh38
NC_000011.9:g.17418526G>T , CM000673.1:g.17418526G>T	GRCh37
NC_000011.8:g.17375102G>T	NCBI36
NG_008867.1:g.84924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3657C>A
ENST00000528374.2:c.647C>A
ENST00000529967.6:n.2395C>A
ENST00000532220.2:n.2304C>A
ENST00000642611.2:n.4271C>A
ENST00000644057.2:n.499C>A
ENST00000645004.2:n.1555C>A
ENST00000682051.1:n.4218C>A
ENST00000682110.1:n.4271C>A
ENST00000682140.1:c.3985+214C>A	ENSP00000507829.1:n.3985+214C>A
ENST00000682185.1:n.5361C>A
ENST00000682204.1:c.*2194C>A	ENSP00000507094.1:n.*2194C>A
ENST00000682215.1:n.4638C>A
ENST00000682288.1:c.*2487C>A	ENSP00000507506.1:n.*2487C>A
ENST00000682442.1:n.4491C>A
ENST00000682528.1:n.4348C>A
ENST00000682673.1:n.4215C>A
ENST00000682805.1:n.4638C>A
ENST00000682965.1:c.*478C>A	ENSP00000508229.1:n.*478C>A
ENST00000683093.1:n.4370C>A
ENST00000683136.1:c.3939C>A	ENSP00000507768.1:p.Arg1313=
ENST00000683153.1:n.4313C>A
ENST00000683365.1:n.4373C>A
ENST00000683377.1:n.4271C>A
ENST00000683456.1:c.*1193C>A	ENSP00000508318.1:n.*1193C>A
ENST00000683522.1:n.4271C>A
ENST00000683562.1:c.*2225C>A	ENSP00000508265.1:n.*2225C>A
ENST00000683693.1:n.4718C>A
ENST00000683725.1:c.4056C>A	ENSP00000507496.1:p.Arg1352=
ENST00000684010.1:n.4266C>A
ENST00000684157.1:n.4271C>A
ENST00000684253.1:n.4174C>A
ENST00000684288.1:c.*2228C>A	ENSP00000507143.1:n.*2228C>A
ENST00000684313.1:n.3703C>A
ENST00000684332.1:n.4344C>A
ENST00000684371.1:n.4377C>A
ENST00000684404.1:n.4314C>A
ENST00000684442.1:n.4495C>A
ENST00000684555.1:c.*2268C>A	ENSP00000507705.1:n.*2268C>A
ENST00000684571.1:c.3897C>A	ENSP00000506935.1:p.Arg1299=
ENST00000684593.1:c.*3761C>A	ENSP00000507005.1:n.*3761C>A
ENST00000684711.1:c.*2452C>A	ENSP00000506841.1:n.*2452C>A
ENST00000302539.9:c.4059C>A	ENSP00000303960.4:p.Arg1353=
ENST00000389817.8:c.4056C>A MANE Select	ENSP00000374467.4:p.Arg1352=
ENST00000642271.1:c.4053C>A	ENSP00000493749.1:p.Arg1351=
ENST00000642579.1:c.2110C>A
ENST00000642611.1:n.4156C>A
ENST00000642902.1:c.3838C>A
ENST00000643260.1:c.4056C>A	ENSP00000494450.1:p.Arg1352=
ENST00000643562.1:c.*2178C>A	ENSP00000496124.1:n.*2178C>A
ENST00000643925.1:c.2696C>A
ENST00000644057.1:n.133C>A
ENST00000644484.1:c.*2457C>A	ENSP00000493558.1:n.*2457C>A
ENST00000644675.1:c.*2228C>A	ENSP00000494567.1:n.*2228C>A
ENST00000644757.1:c.*2487C>A	ENSP00000495085.1:n.*2487C>A
ENST00000644772.1:c.4122C>A	ENSP00000494321.1:p.Arg1374=
ENST00000645004.1:n.1711C>A
ENST00000645076.1:c.3255C>A
ENST00000645417.1:c.1244C>A
ENST00000645744.1:c.*2836C>A	ENSP00000494564.1:n.*2836C>A
ENST00000645760.1:c.4477C>A
ENST00000645884.1:c.*1339C>A	ENSP00000495516.1:n.*1339C>A
ENST00000646003.1:c.*2158C>A	ENSP00000495259.1:n.*2158C>A
ENST00000646207.1:c.*2893C>A	ENSP00000495025.1:n.*2893C>A
ENST00000646276.1:c.*2475C>A	ENSP00000496070.1:n.*2475C>A
ENST00000646592.1:c.3362C>A
ENST00000646902.1:c.4023C>A	ENSP00000494101.1:p.Arg1341=
ENST00000646993.1:c.*2598C>A	ENSP00000493720.1:n.*2598C>A
ENST00000647013.1:c.4062C>A	ENSP00000496741.1:n.4062C>A
ENST00000647015.1:c.3807C>A	ENSP00000495389.1:p.Arg1269=
ENST00000647086.1:c.*3642C>A	ENSP00000493677.1:n.*3642C>A
ENST00000647158.1:c.*2343C>A	ENSP00000495744.1:n.*2343C>A
ENST00000302539.8:c.4059C>A	ENSP00000303960.4:p.Arg1353=
ENST00000389817.7:c.4056C>A	ENSP00000374467.3:p.Arg1352=
ENST00000527905.5:c.*1078C>A	ENSP00000431653.1:n.*1078C>A
ENST00000528374.1:c.538C>A
ENST00000531137.1:n.621C>A
ENST00000531891.1:c.394C>A
ENST00000532220.1:n.530C>A
NM_000352.4:c.4056C>A	NP_000343.2:p.Arg1352=
NM_001287174.1:c.4059C>A	NP_001274103.1:p.Arg1353=
XM_011520331.1:c.4056C>A	XP_011518633.1:p.Arg1352=
XM_011520332.1:c.4059C>A	XP_011518634.1:p.Arg1353=
XM_011520333.1:c.2556C>A	XP_011518635.1:p.Arg852=
XR_930890.1:n.4122C>A
NM_001351295.1:c.4122C>A	NP_001338224.1:p.Arg1374=
NM_001351296.1:c.4056C>A	NP_001338225.1:p.Arg1352=
NM_001351297.1:c.4053C>A	NP_001338226.1:p.Arg1351=
NR_147094.1:n.4351C>A
XM_017018197.2:c.4125C>A	XP_016873686.1:p.Arg1375=
XM_017018199.1:c.4122C>A	XP_016873688.1:p.Arg1374=
XM_017018201.2:c.4125C>A	XP_016873690.1:p.Arg1375=
XM_017018202.1:c.2622C>A	XP_016873691.1:p.Arg874=
XM_017018204.1:c.2013C>A	XP_016873693.1:p.Arg671=
XM_024448668.1:c.2424C>A	XP_024304436.1:p.Arg808=
XR_001747945.2:n.4197C>A
XR_001747946.2:n.4128C>A
XR_002957189.1:n.4793C>A
NM_000352.6:c.4056C>A MANE Select	NP_000343.2:p.Arg1352=
NM_001287174.2:c.4059C>A	NP_001274103.1:p.Arg1353=
NM_001351295.2:c.4122C>A	NP_001338224.1:p.Arg1374=
NM_001351296.2:c.4056C>A	NP_001338225.1:p.Arg1352=
NM_001351297.2:c.4053C>A	NP_001338226.1:p.Arg1351=
NR_147094.2:n.4351C>A
NM_001287174.3:c.4059C>A	NP_001274103.1:p.Arg1353=