Canonical Allele Identifier: CA473298010

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415250G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393703G>T , CM000673.2:g.17393703G>T	GRCh38
NC_000011.9:g.17415250G>T , CM000673.1:g.17415250G>T	GRCh37
NC_000011.8:g.17371826G>T	NCBI36
NG_008867.1:g.88200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4203C>A
ENST00000526037.6:n.537C>A
ENST00000528374.2:c.1193C>A
ENST00000529967.6:n.2941C>A
ENST00000532220.2:n.3835C>A
ENST00000642611.2:n.5935C>A
ENST00000644057.2:n.1178C>A
ENST00000645004.2:n.2101C>A
ENST00000682051.1:n.4764C>A
ENST00000682110.1:n.4817C>A
ENST00000682140.1:c.*388C>A	ENSP00000507829.1:n.*388C>A
ENST00000682185.1:n.5907C>A
ENST00000682204.1:c.*2740C>A	ENSP00000507094.1:n.*2740C>A
ENST00000682215.1:n.5184C>A
ENST00000682288.1:c.*3033C>A	ENSP00000507506.1:n.*3033C>A
ENST00000682442.1:n.5037C>A
ENST00000682528.1:n.4894C>A
ENST00000682673.1:n.4761C>A
ENST00000682805.1:n.5222C>A
ENST00000682965.1:c.*1024C>A	ENSP00000508229.1:n.*1024C>A
ENST00000683093.1:n.5797C>A
ENST00000683136.1:c.4485C>A	ENSP00000507768.1:p.Thr1495=
ENST00000683153.1:n.4859C>A
ENST00000683365.1:n.4919C>A
ENST00000683377.1:n.4713C>A
ENST00000683456.1:c.*1739C>A	ENSP00000508318.1:n.*1739C>A
ENST00000683522.1:n.4899C>A
ENST00000683562.1:c.*2667C>A	ENSP00000508265.1:n.*2667C>A
ENST00000683693.1:n.6278C>A
ENST00000683725.1:c.*67C>A	ENSP00000507496.1:n.*67C>A
ENST00000684010.1:n.4812C>A
ENST00000684014.1:n.789C>A
ENST00000684157.1:n.5802C>A
ENST00000684253.1:n.4720C>A
ENST00000684288.1:c.*2774C>A	ENSP00000507143.1:n.*2774C>A
ENST00000684313.1:n.4249C>A
ENST00000684332.1:n.4890C>A
ENST00000684371.1:n.4923C>A
ENST00000684404.1:n.5845C>A
ENST00000684442.1:n.5041C>A
ENST00000684555.1:c.*2814C>A	ENSP00000507705.1:n.*2814C>A
ENST00000684571.1:c.4443C>A	ENSP00000506935.1:p.Thr1481=
ENST00000684593.1:c.*4307C>A	ENSP00000507005.1:n.*4307C>A
ENST00000684711.1:c.*2998C>A	ENSP00000506841.1:n.*2998C>A
ENST00000302539.9:c.4605C>A	ENSP00000303960.4:p.Thr1535=
ENST00000389817.8:c.4602C>A MANE Select	ENSP00000374467.4:p.Thr1534=
ENST00000642271.1:c.4599C>A	ENSP00000493749.1:p.Thr1533=
ENST00000642579.1:c.2656C>A
ENST00000642611.1:n.5820C>A
ENST00000642902.1:c.4384C>A
ENST00000643260.1:c.4602C>A	ENSP00000494450.1:p.Thr1534=
ENST00000643562.1:c.*2724C>A	ENSP00000496124.1:n.*2724C>A
ENST00000643925.1:c.3185+563C>A
ENST00000644057.1:n.761C>A
ENST00000644484.1:c.*3988C>A	ENSP00000493558.1:n.*3988C>A
ENST00000644675.1:c.*2774C>A	ENSP00000494567.1:n.*2774C>A
ENST00000644757.1:c.*3203-723C>A	ENSP00000495085.1:n.*3203-723C>A
ENST00000644772.1:c.4668C>A	ENSP00000494321.1:p.Thr1556=
ENST00000645004.1:n.2295C>A
ENST00000645076.1:c.3697C>A
ENST00000645417.1:c.1790C>A
ENST00000645744.1:c.*4287C>A	ENSP00000494564.1:n.*4287C>A
ENST00000645760.1:c.5023C>A
ENST00000645884.1:c.*1885C>A	ENSP00000495516.1:n.*1885C>A
ENST00000646003.1:c.*2624C>A	ENSP00000495259.1:n.*2624C>A
ENST00000646207.1:c.*3439C>A	ENSP00000495025.1:n.*3439C>A
ENST00000646276.1:c.*4006C>A	ENSP00000496070.1:n.*4006C>A
ENST00000646592.1:c.3908C>A
ENST00000646902.1:c.4569C>A	ENSP00000494101.1:p.Thr1523=
ENST00000646993.1:c.*3040C>A	ENSP00000493720.1:n.*3040C>A
ENST00000647015.1:c.4353C>A	ENSP00000495389.1:p.Thr1451=
ENST00000647086.1:c.*4188C>A	ENSP00000493677.1:n.*4188C>A
ENST00000647158.1:c.*2889C>A	ENSP00000495744.1:n.*2889C>A
ENST00000302539.8:c.4605C>A	ENSP00000303960.4:p.Thr1535=
ENST00000389817.7:c.4602C>A	ENSP00000374467.3:p.Thr1534=
ENST00000525022.1:n.497C>A
ENST00000526037.5:n.362C>A
ENST00000526168.5:c.390C>A
ENST00000531642.5:c.633C>A
NM_000352.4:c.4602C>A	NP_000343.2:p.Thr1534=
NM_001287174.1:c.4605C>A	NP_001274103.1:p.Thr1535=
XM_011520331.1:c.4602C>A	XP_011518633.1:p.Thr1534=
XM_011520333.1:c.3102C>A	XP_011518635.1:p.Thr1034=
XR_930890.1:n.4564C>A
NM_001351295.1:c.4668C>A	NP_001338224.1:p.Thr1556=
NM_001351296.1:c.4602C>A	NP_001338225.1:p.Thr1534=
NM_001351297.1:c.4599C>A	NP_001338226.1:p.Thr1533=
NR_147094.1:n.4897C>A
XM_017018197.2:c.4671C>A	XP_016873686.1:p.Thr1557=
XM_017018199.1:c.4668C>A	XP_016873688.1:p.Thr1556=
XM_017018202.1:c.3168C>A	XP_016873691.1:p.Thr1056=
XM_017018204.1:c.2559C>A	XP_016873693.1:p.Thr853=
XM_024448668.1:c.2970C>A	XP_024304436.1:p.Thr990=
XR_001747945.2:n.4639C>A
XR_001747946.2:n.4570C>A
XR_002957189.1:n.6353C>A
NM_000352.6:c.4602C>A MANE Select	NP_000343.2:p.Thr1534=
NM_001287174.2:c.4605C>A	NP_001274103.1:p.Thr1535=
NM_001351295.2:c.4668C>A	NP_001338224.1:p.Thr1556=
NM_001351296.2:c.4602C>A	NP_001338225.1:p.Thr1534=
NM_001351297.2:c.4599C>A	NP_001338226.1:p.Thr1533=
NR_147094.2:n.4897C>A
NM_001287174.3:c.4605C>A	NP_001274103.1:p.Thr1535=