Canonical Allele Identifier: CA1955123216

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395611G= , CM000673.2:g.17395611G=	GRCh38
NC_000011.9:g.17417158G= , CM000673.1:g.17417158G=	GRCh37
NC_000011.8:g.17373734G=	NCBI36
NG_008867.1:g.86292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3907C=
ENST00000528374.2:c.897C=
ENST00000529967.6:n.2645C=
ENST00000532220.2:n.3539C=
ENST00000642611.2:n.5639C=
ENST00000644057.2:n.882C=
ENST00000645004.2:n.1805C=
ENST00000682051.1:n.4468C=
ENST00000682110.1:n.4521C=
ENST00000682140.1:c.*92C=	ENSP00000507829.1:n.*92C=
ENST00000682185.1:n.5611C=
ENST00000682204.1:c.*2444C=	ENSP00000507094.1:n.*2444C=
ENST00000682215.1:n.4888C=
ENST00000682288.1:c.*2737C=	ENSP00000507506.1:n.*2737C=
ENST00000682442.1:n.4741C=
ENST00000682528.1:n.4598C=
ENST00000682673.1:n.4465C=
ENST00000682805.1:n.4926C=
ENST00000682965.1:c.*728C=	ENSP00000508229.1:n.*728C=
ENST00000683093.1:n.5605C=
ENST00000683136.1:c.4189C=	ENSP00000507768.1:p.Arg1397=
ENST00000683153.1:n.4563C=
ENST00000683365.1:n.4623C=
ENST00000683377.1:n.4521C=
ENST00000683456.1:c.*1443C=	ENSP00000508318.1:n.*1443C=
ENST00000683522.1:n.4521C=
ENST00000683562.1:c.*2475C=	ENSP00000508265.1:n.*2475C=
ENST00000683693.1:n.6086C=
ENST00000683725.1:c.4306C=	ENSP00000507496.1:p.Arg1436=
ENST00000684010.1:n.4516C=
ENST00000684157.1:n.5506C=
ENST00000684253.1:n.4424C=
ENST00000684288.1:c.*2478C=	ENSP00000507143.1:n.*2478C=
ENST00000684313.1:n.3953C=
ENST00000684332.1:n.4594C=
ENST00000684371.1:n.4627C=
ENST00000684404.1:n.5549C=
ENST00000684442.1:n.4745C=
ENST00000684555.1:c.*2518C=	ENSP00000507705.1:n.*2518C=
ENST00000684571.1:c.4147C=	ENSP00000506935.1:p.Arg1383=
ENST00000684593.1:c.*4011C=	ENSP00000507005.1:n.*4011C=
ENST00000684711.1:c.*2702C=	ENSP00000506841.1:n.*2702C=
ENST00000302539.9:c.4309C=	ENSP00000303960.4:p.Arg1437=
ENST00000389817.8:c.4306C= MANE Select	ENSP00000374467.4:p.Arg1436=
ENST00000642271.1:c.4303C=	ENSP00000493749.1:p.Arg1435=
ENST00000642579.1:c.2360C=
ENST00000642611.1:n.5524C=
ENST00000642902.1:c.4088C=
ENST00000643260.1:c.4306C=	ENSP00000494450.1:p.Arg1436=
ENST00000643562.1:c.*2428C=	ENSP00000496124.1:n.*2428C=
ENST00000643925.1:c.2946C=
ENST00000644057.1:n.383C=
ENST00000644484.1:c.*3692C=	ENSP00000493558.1:n.*3692C=
ENST00000644675.1:c.*2478C=	ENSP00000494567.1:n.*2478C=
ENST00000644757.1:c.*3202+653C=	ENSP00000495085.1:n.*3202+653C=
ENST00000644772.1:c.4372C=	ENSP00000494321.1:p.Arg1458=
ENST00000645004.1:n.1999C=
ENST00000645076.1:c.3505C=
ENST00000645417.1:c.1494C=
ENST00000645744.1:c.*3991C=	ENSP00000494564.1:n.*3991C=
ENST00000645760.1:c.4727C=
ENST00000645884.1:c.*1589C=	ENSP00000495516.1:n.*1589C=
ENST00000646003.1:c.*2328C=	ENSP00000495259.1:n.*2328C=
ENST00000646207.1:c.*3143C=	ENSP00000495025.1:n.*3143C=
ENST00000646276.1:c.*3710C=	ENSP00000496070.1:n.*3710C=
ENST00000646592.1:c.3612C=
ENST00000646902.1:c.4273C=	ENSP00000494101.1:p.Arg1425=
ENST00000646993.1:c.*2848C=	ENSP00000493720.1:n.*2848C=
ENST00000647013.1:c.4312C=	ENSP00000496741.1:n.4312C=
ENST00000647015.1:c.4057C=	ENSP00000495389.1:p.Arg1353=
ENST00000647086.1:c.*3892C=	ENSP00000493677.1:n.*3892C=
ENST00000647158.1:c.*2593C=	ENSP00000495744.1:n.*2593C=
ENST00000302539.8:c.4309C=	ENSP00000303960.4:p.Arg1437=
ENST00000389817.7:c.4306C=	ENSP00000374467.3:p.Arg1436=
ENST00000525022.1:n.305C=
ENST00000526037.5:n.170C=
ENST00000526168.5:c.94C=
ENST00000531642.5:c.142C=
NM_000352.4:c.4306C=	NP_000343.2:p.Arg1436=
NM_001287174.1:c.4309C=	NP_001274103.1:p.Arg1437=
XM_011520331.1:c.4306C=	XP_011518633.1:p.Arg1436=
XM_011520332.1:c.4309C=	XP_011518634.1:p.Arg1437=
XM_011520333.1:c.2806C=	XP_011518635.1:p.Arg936=
XR_930890.1:n.4372C=
NM_001351295.1:c.4372C=	NP_001338224.1:p.Arg1458=
NM_001351296.1:c.4306C=	NP_001338225.1:p.Arg1436=
NM_001351297.1:c.4303C=	NP_001338226.1:p.Arg1435=
NR_147094.1:n.4601C=
XM_017018197.2:c.4375C=	XP_016873686.1:p.Arg1459=
XM_017018199.1:c.4372C=	XP_016873688.1:p.Arg1458=
XM_017018201.2:c.4375C=	XP_016873690.1:p.Arg1459=
XM_017018202.1:c.2872C=	XP_016873691.1:p.Arg958=
XM_017018204.1:c.2263C=	XP_016873693.1:p.Arg755=
XM_024448668.1:c.2674C=	XP_024304436.1:p.Arg892=
XR_001747945.2:n.4447C=
XR_001747946.2:n.4378C=
XR_002957189.1:n.6161C=
NM_000352.6:c.4306C= MANE Select	NP_000343.2:p.Arg1436=
NM_001287174.2:c.4309C=	NP_001274103.1:p.Arg1437=
NM_001351295.2:c.4372C=	NP_001338224.1:p.Arg1458=
NM_001351296.2:c.4306C=	NP_001338225.1:p.Arg1436=
NM_001351297.2:c.4303C=	NP_001338226.1:p.Arg1435=
NR_147094.2:n.4601C=
NM_001287174.3:c.4309C=	NP_001274103.1:p.Arg1437=