Canonical Allele Identifier: CA379790232

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418476G>T (hg19) ; chr11:g.17396929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396929G>T , CM000673.2:g.17396929G>T	GRCh38
NC_000011.9:g.17418476G>T , CM000673.1:g.17418476G>T	GRCh37
NC_000011.8:g.17375052G>T	NCBI36
NG_008867.1:g.84974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3707C>A
ENST00000528374.2:c.697C>A
ENST00000529967.6:n.2445C>A
ENST00000532220.2:n.2354C>A
ENST00000642611.2:n.4321C>A
ENST00000644057.2:n.549C>A
ENST00000645004.2:n.1605C>A
ENST00000682051.1:n.4268C>A
ENST00000682110.1:n.4321C>A
ENST00000682140.1:c.3985+264C>A	ENSP00000507829.1:n.3985+264C>A
ENST00000682185.1:n.5411C>A
ENST00000682204.1:c.*2244C>A	ENSP00000507094.1:n.*2244C>A
ENST00000682215.1:n.4688C>A
ENST00000682288.1:c.*2537C>A	ENSP00000507506.1:n.*2537C>A
ENST00000682442.1:n.4541C>A
ENST00000682528.1:n.4398C>A
ENST00000682673.1:n.4265C>A
ENST00000682805.1:n.4688C>A
ENST00000682965.1:c.*528C>A	ENSP00000508229.1:n.*528C>A
ENST00000683093.1:n.4420C>A
ENST00000683136.1:c.3989C>A	ENSP00000507768.1:p.Ala1330Asp
ENST00000683153.1:n.4363C>A
ENST00000683365.1:n.4423C>A
ENST00000683377.1:n.4321C>A
ENST00000683456.1:c.*1243C>A	ENSP00000508318.1:n.*1243C>A
ENST00000683522.1:n.4321C>A
ENST00000683562.1:c.*2275C>A	ENSP00000508265.1:n.*2275C>A
ENST00000683693.1:n.4768C>A
ENST00000683725.1:c.4106C>A	ENSP00000507496.1:p.Ala1369Asp
ENST00000684010.1:n.4316C>A
ENST00000684157.1:n.4321C>A
ENST00000684253.1:n.4224C>A
ENST00000684288.1:c.*2278C>A	ENSP00000507143.1:n.*2278C>A
ENST00000684313.1:n.3753C>A
ENST00000684332.1:n.4394C>A
ENST00000684371.1:n.4427C>A
ENST00000684404.1:n.4364C>A
ENST00000684442.1:n.4545C>A
ENST00000684555.1:c.*2318C>A	ENSP00000507705.1:n.*2318C>A
ENST00000684571.1:c.3947C>A	ENSP00000506935.1:p.Ala1316Asp
ENST00000684593.1:c.*3811C>A	ENSP00000507005.1:n.*3811C>A
ENST00000684711.1:c.*2502C>A	ENSP00000506841.1:n.*2502C>A
ENST00000302539.9:c.4109C>A	ENSP00000303960.4:p.Ala1370Asp
ENST00000389817.8:c.4106C>A MANE Select	ENSP00000374467.4:p.Ala1369Asp
ENST00000642271.1:c.4103C>A	ENSP00000493749.1:p.Ala1368Asp
ENST00000642579.1:c.2160C>A
ENST00000642611.1:n.4206C>A
ENST00000642902.1:c.3888C>A
ENST00000643260.1:c.4106C>A	ENSP00000494450.1:p.Ala1369Asp
ENST00000643562.1:c.*2228C>A	ENSP00000496124.1:n.*2228C>A
ENST00000643925.1:c.2746C>A
ENST00000644057.1:n.183C>A
ENST00000644484.1:c.*2507C>A	ENSP00000493558.1:n.*2507C>A
ENST00000644675.1:c.*2278C>A	ENSP00000494567.1:n.*2278C>A
ENST00000644757.1:c.*2537C>A	ENSP00000495085.1:n.*2537C>A
ENST00000644772.1:c.4172C>A	ENSP00000494321.1:p.Ala1391Asp
ENST00000645004.1:n.1761C>A
ENST00000645076.1:c.3305C>A
ENST00000645417.1:c.1294C>A
ENST00000645744.1:c.*2886C>A	ENSP00000494564.1:n.*2886C>A
ENST00000645760.1:c.4527C>A
ENST00000645884.1:c.*1389C>A	ENSP00000495516.1:n.*1389C>A
ENST00000646003.1:c.*2208C>A	ENSP00000495259.1:n.*2208C>A
ENST00000646207.1:c.*2943C>A	ENSP00000495025.1:n.*2943C>A
ENST00000646276.1:c.*2525C>A	ENSP00000496070.1:n.*2525C>A
ENST00000646592.1:c.3412C>A
ENST00000646902.1:c.4073C>A	ENSP00000494101.1:p.Ala1358Asp
ENST00000646993.1:c.*2648C>A	ENSP00000493720.1:n.*2648C>A
ENST00000647013.1:c.4112C>A	ENSP00000496741.1:n.4112C>A
ENST00000647015.1:c.3857C>A	ENSP00000495389.1:p.Ala1286Asp
ENST00000647086.1:c.*3692C>A	ENSP00000493677.1:n.*3692C>A
ENST00000647158.1:c.*2393C>A	ENSP00000495744.1:n.*2393C>A
ENST00000302539.8:c.4109C>A	ENSP00000303960.4:p.Ala1370Asp
ENST00000389817.7:c.4106C>A	ENSP00000374467.3:p.Ala1369Asp
ENST00000527905.5:c.*1128C>A	ENSP00000431653.1:n.*1128C>A
ENST00000528374.1:c.588C>A
ENST00000532220.1:n.580C>A
NM_000352.4:c.4106C>A	NP_000343.2:p.Ala1369Asp
NM_001287174.1:c.4109C>A	NP_001274103.1:p.Ala1370Asp
XM_011520331.1:c.4106C>A	XP_011518633.1:p.Ala1369Asp
XM_011520332.1:c.4109C>A	XP_011518634.1:p.Ala1370Asp
XM_011520333.1:c.2606C>A	XP_011518635.1:p.Ala869Asp
XR_930890.1:n.4172C>A
NM_001351295.1:c.4172C>A	NP_001338224.1:p.Ala1391Asp
NM_001351296.1:c.4106C>A	NP_001338225.1:p.Ala1369Asp
NM_001351297.1:c.4103C>A	NP_001338226.1:p.Ala1368Asp
NR_147094.1:n.4401C>A
XM_017018197.2:c.4175C>A	XP_016873686.1:p.Ala1392Asp
XM_017018199.1:c.4172C>A	XP_016873688.1:p.Ala1391Asp
XM_017018201.2:c.4175C>A	XP_016873690.1:p.Ala1392Asp
XM_017018202.1:c.2672C>A	XP_016873691.1:p.Ala891Asp
XM_017018204.1:c.2063C>A	XP_016873693.1:p.Ala688Asp
XM_024448668.1:c.2474C>A	XP_024304436.1:p.Ala825Asp
XR_001747945.2:n.4247C>A
XR_001747946.2:n.4178C>A
XR_002957189.1:n.4843C>A
NM_000352.6:c.4106C>A MANE Select	NP_000343.2:p.Ala1369Asp
NM_001287174.2:c.4109C>A	NP_001274103.1:p.Ala1370Asp
NM_001351295.2:c.4172C>A	NP_001338224.1:p.Ala1391Asp
NM_001351296.2:c.4106C>A	NP_001338225.1:p.Ala1369Asp
NM_001351297.2:c.4103C>A	NP_001338226.1:p.Ala1368Asp
NR_147094.2:n.4401C>A
NM_001287174.3:c.4109C>A	NP_001274103.1:p.Ala1370Asp