Canonical Allele Identifier: CA1955122294

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393704G= , CM000673.2:g.17393704G=	GRCh38
NC_000011.9:g.17415251G= , CM000673.1:g.17415251G=	GRCh37
NC_000011.8:g.17371827G=	NCBI36
NG_008867.1:g.88199C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4202C=
ENST00000526037.6:n.536C=
ENST00000528374.2:c.1192C=
ENST00000529967.6:n.2940C=
ENST00000532220.2:n.3834C=
ENST00000642611.2:n.5934C=
ENST00000644057.2:n.1177C=
ENST00000645004.2:n.2100C=
ENST00000682051.1:n.4763C=
ENST00000682110.1:n.4816C=
ENST00000682140.1:c.*387C=	ENSP00000507829.1:n.*387C=
ENST00000682185.1:n.5906C=
ENST00000682204.1:c.*2739C=	ENSP00000507094.1:n.*2739C=
ENST00000682215.1:n.5183C=
ENST00000682288.1:c.*3032C=	ENSP00000507506.1:n.*3032C=
ENST00000682442.1:n.5036C=
ENST00000682528.1:n.4893C=
ENST00000682673.1:n.4760C=
ENST00000682805.1:n.5221C=
ENST00000682965.1:c.*1023C=	ENSP00000508229.1:n.*1023C=
ENST00000683093.1:n.5796C=
ENST00000683136.1:c.4484C=	ENSP00000507768.1:p.Thr1495=
ENST00000683153.1:n.4858C=
ENST00000683365.1:n.4918C=
ENST00000683377.1:n.4712C=
ENST00000683456.1:c.*1738C=	ENSP00000508318.1:n.*1738C=
ENST00000683522.1:n.4898C=
ENST00000683562.1:c.*2666C=	ENSP00000508265.1:n.*2666C=
ENST00000683693.1:n.6277C=
ENST00000683725.1:c.*66C=	ENSP00000507496.1:n.*66C=
ENST00000684010.1:n.4811C=
ENST00000684014.1:n.788C=
ENST00000684157.1:n.5801C=
ENST00000684253.1:n.4719C=
ENST00000684288.1:c.*2773C=	ENSP00000507143.1:n.*2773C=
ENST00000684313.1:n.4248C=
ENST00000684332.1:n.4889C=
ENST00000684371.1:n.4922C=
ENST00000684404.1:n.5844C=
ENST00000684442.1:n.5040C=
ENST00000684555.1:c.*2813C=	ENSP00000507705.1:n.*2813C=
ENST00000684571.1:c.4442C=	ENSP00000506935.1:p.Thr1481=
ENST00000684593.1:c.*4306C=	ENSP00000507005.1:n.*4306C=
ENST00000684711.1:c.*2997C=	ENSP00000506841.1:n.*2997C=
ENST00000302539.9:c.4604C=	ENSP00000303960.4:p.Thr1535=
ENST00000389817.8:c.4601C= MANE Select	ENSP00000374467.4:p.Thr1534=
ENST00000642271.1:c.4598C=	ENSP00000493749.1:p.Thr1533=
ENST00000642579.1:c.2655C=
ENST00000642611.1:n.5819C=
ENST00000642902.1:c.4383C=
ENST00000643260.1:c.4601C=	ENSP00000494450.1:p.Thr1534=
ENST00000643562.1:c.*2723C=	ENSP00000496124.1:n.*2723C=
ENST00000643925.1:c.3185+562C=
ENST00000644057.1:n.760C=
ENST00000644484.1:c.*3987C=	ENSP00000493558.1:n.*3987C=
ENST00000644675.1:c.*2773C=	ENSP00000494567.1:n.*2773C=
ENST00000644757.1:c.*3203-724C=	ENSP00000495085.1:n.*3203-724C=
ENST00000644772.1:c.4667C=	ENSP00000494321.1:p.Thr1556=
ENST00000645004.1:n.2294C=
ENST00000645076.1:c.3696C=
ENST00000645417.1:c.1789C=
ENST00000645744.1:c.*4286C=	ENSP00000494564.1:n.*4286C=
ENST00000645760.1:c.5022C=
ENST00000645884.1:c.*1884C=	ENSP00000495516.1:n.*1884C=
ENST00000646003.1:c.*2623C=	ENSP00000495259.1:n.*2623C=
ENST00000646207.1:c.*3438C=	ENSP00000495025.1:n.*3438C=
ENST00000646276.1:c.*4005C=	ENSP00000496070.1:n.*4005C=
ENST00000646592.1:c.3907C=
ENST00000646902.1:c.4568C=	ENSP00000494101.1:p.Thr1523=
ENST00000646993.1:c.*3039C=	ENSP00000493720.1:n.*3039C=
ENST00000647015.1:c.4352C=	ENSP00000495389.1:p.Thr1451=
ENST00000647086.1:c.*4187C=	ENSP00000493677.1:n.*4187C=
ENST00000647158.1:c.*2888C=	ENSP00000495744.1:n.*2888C=
ENST00000302539.8:c.4604C=	ENSP00000303960.4:p.Thr1535=
ENST00000389817.7:c.4601C=	ENSP00000374467.3:p.Thr1534=
ENST00000525022.1:n.496C=
ENST00000526037.5:n.361C=
ENST00000526168.5:c.389C=
ENST00000531642.5:c.632C=
NM_000352.4:c.4601C=	NP_000343.2:p.Thr1534=
NM_001287174.1:c.4604C=	NP_001274103.1:p.Thr1535=
XM_011520331.1:c.4601C=	XP_011518633.1:p.Thr1534=
XM_011520333.1:c.3101C=	XP_011518635.1:p.Thr1034=
XR_930890.1:n.4563C=
NM_001351295.1:c.4667C=	NP_001338224.1:p.Thr1556=
NM_001351296.1:c.4601C=	NP_001338225.1:p.Thr1534=
NM_001351297.1:c.4598C=	NP_001338226.1:p.Thr1533=
NR_147094.1:n.4896C=
XM_017018197.2:c.4670C=	XP_016873686.1:p.Thr1557=
XM_017018199.1:c.4667C=	XP_016873688.1:p.Thr1556=
XM_017018202.1:c.3167C=	XP_016873691.1:p.Thr1056=
XM_017018204.1:c.2558C=	XP_016873693.1:p.Thr853=
XM_024448668.1:c.2969C=	XP_024304436.1:p.Thr990=
XR_001747945.2:n.4638C=
XR_001747946.2:n.4569C=
XR_002957189.1:n.6352C=
NM_000352.6:c.4601C= MANE Select	NP_000343.2:p.Thr1534=
NM_001287174.2:c.4604C=	NP_001274103.1:p.Thr1535=
NM_001351295.2:c.4667C=	NP_001338224.1:p.Thr1556=
NM_001351296.2:c.4601C=	NP_001338225.1:p.Thr1534=
NM_001351297.2:c.4598C=	NP_001338226.1:p.Thr1533=
NR_147094.2:n.4896C=
NM_001287174.3:c.4604C=	NP_001274103.1:p.Thr1535=