Canonical Allele Identifier: CA1955121993

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393119G= , CM000673.2:g.17393119G=	GRCh38
NC_000011.9:g.17414666G= , CM000673.1:g.17414666G=	GRCh37
NC_000011.8:g.17371242G=	NCBI36
NG_008867.1:g.88784C=
NG_012446.1:g.541C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4219C=
ENST00000526037.6:n.553C=
ENST00000528374.2:c.1209C=
ENST00000529967.6:n.2957C=
ENST00000532220.2:n.3851C=
ENST00000642611.2:n.5951C=
ENST00000644057.2:n.1194C=
ENST00000645004.2:n.2117C=
ENST00000682051.1:n.4780C=
ENST00000682110.1:n.4833C=
ENST00000682140.1:c.*404C=	ENSP00000507829.1:n.*404C=
ENST00000682185.1:n.5923C=
ENST00000682204.1:c.*2756C=	ENSP00000507094.1:n.*2756C=
ENST00000682215.1:n.5200C=
ENST00000682288.1:c.*3049C=	ENSP00000507506.1:n.*3049C=
ENST00000682442.1:n.5053C=
ENST00000682528.1:n.4910C=
ENST00000682673.1:n.4777C=
ENST00000682805.1:n.5238C=
ENST00000682965.1:c.*1040C=	ENSP00000508229.1:n.*1040C=
ENST00000683093.1:n.5813C=
ENST00000683136.1:c.4501C=	ENSP00000507768.1:p.His1501=
ENST00000683153.1:n.4875C=
ENST00000683365.1:n.4935C=
ENST00000683377.1:n.4729C=
ENST00000683456.1:c.*1755C=	ENSP00000508318.1:n.*1755C=
ENST00000683522.1:n.4915C=
ENST00000683562.1:c.*2683C=	ENSP00000508265.1:n.*2683C=
ENST00000683693.1:n.6294C=
ENST00000683725.1:c.*83C=	ENSP00000507496.1:n.*83C=
ENST00000684010.1:n.4828C=
ENST00000684014.1:n.805C=
ENST00000684157.1:n.5818C=
ENST00000684253.1:n.4736C=
ENST00000684288.1:c.*2790C=	ENSP00000507143.1:n.*2790C=
ENST00000684313.1:n.4265C=
ENST00000684332.1:n.4906C=
ENST00000684371.1:n.4939C=
ENST00000684404.1:n.5861C=
ENST00000684442.1:n.5057C=
ENST00000684555.1:c.*2830C=	ENSP00000507705.1:n.*2830C=
ENST00000684571.1:c.4459C=	ENSP00000506935.1:p.His1487=
ENST00000684593.1:c.*4323C=	ENSP00000507005.1:n.*4323C=
ENST00000684711.1:c.*3014C=	ENSP00000506841.1:n.*3014C=
ENST00000302539.9:c.4621C=	ENSP00000303960.4:p.His1541=
ENST00000389817.8:c.4618C= MANE Select	ENSP00000374467.4:p.His1540=
ENST00000642271.1:c.4615C=	ENSP00000493749.1:p.His1539=
ENST00000642579.1:c.2672C=
ENST00000642611.1:n.5836C=
ENST00000642902.1:c.4400C=
ENST00000643260.1:c.4618C=	ENSP00000494450.1:p.His1540=
ENST00000643562.1:c.*2740C=	ENSP00000496124.1:n.*2740C=
ENST00000643925.1:c.3195C=
ENST00000644057.1:n.777C=
ENST00000644484.1:c.*4004C=	ENSP00000493558.1:n.*4004C=
ENST00000644675.1:c.*2790C=	ENSP00000494567.1:n.*2790C=
ENST00000644757.1:c.*3203-139C=	ENSP00000495085.1:n.*3203-139C=
ENST00000644772.1:c.4684C=	ENSP00000494321.1:p.His1562=
ENST00000645004.1:n.2311C=
ENST00000645076.1:c.3713C=
ENST00000645417.1:c.1806C=
ENST00000645744.1:c.*4303C=	ENSP00000494564.1:n.*4303C=
ENST00000645760.1:c.5039C=
ENST00000645884.1:c.*1901C=	ENSP00000495516.1:n.*1901C=
ENST00000646003.1:c.*2640C=	ENSP00000495259.1:n.*2640C=
ENST00000646207.1:c.*3455C=	ENSP00000495025.1:n.*3455C=
ENST00000646276.1:c.*4022C=	ENSP00000496070.1:n.*4022C=
ENST00000646592.1:c.3924C=
ENST00000646902.1:c.4585C=	ENSP00000494101.1:p.His1529=
ENST00000646993.1:c.*3056C=	ENSP00000493720.1:n.*3056C=
ENST00000647015.1:c.4369C=	ENSP00000495389.1:p.His1457=
ENST00000647086.1:c.*4204C=	ENSP00000493677.1:n.*4204C=
ENST00000647158.1:c.*2905C=	ENSP00000495744.1:n.*2905C=
ENST00000302539.8:c.4621C=	ENSP00000303960.4:p.His1541=
ENST00000389817.7:c.4618C=	ENSP00000374467.3:p.His1540=
ENST00000525022.1:n.597C=
ENST00000526037.5:n.378C=
ENST00000526168.5:c.406C=
ENST00000531642.5:c.649C=
NM_000352.4:c.4618C=	NP_000343.2:p.His1540=
NM_001287174.1:c.4621C=	NP_001274103.1:p.His1541=
XM_011520331.1:c.4618C=	XP_011518633.1:p.His1540=
XM_011520333.1:c.3118C=	XP_011518635.1:p.His1040=
XR_930890.1:n.4580C=
NM_001351295.1:c.4684C=	NP_001338224.1:p.His1562=
NM_001351296.1:c.4618C=	NP_001338225.1:p.His1540=
NM_001351297.1:c.4615C=	NP_001338226.1:p.His1539=
NR_147094.1:n.4913C=
XM_017018197.2:c.4687C=	XP_016873686.1:p.His1563=
XM_017018199.1:c.4684C=	XP_016873688.1:p.His1562=
XM_017018202.1:c.3184C=	XP_016873691.1:p.His1062=
XM_017018204.1:c.2575C=	XP_016873693.1:p.His859=
XM_024448668.1:c.2986C=	XP_024304436.1:p.His996=
XR_001747945.2:n.4655C=
XR_001747946.2:n.4586C=
XR_002957189.1:n.6369C=
NM_000352.6:c.4618C= MANE Select	NP_000343.2:p.His1540=
NM_001287174.2:c.4621C=	NP_001274103.1:p.His1541=
NM_001351295.2:c.4684C=	NP_001338224.1:p.His1562=
NM_001351296.2:c.4618C=	NP_001338225.1:p.His1540=
NM_001351297.2:c.4615C=	NP_001338226.1:p.His1539=
NR_147094.2:n.4913C=
NM_001287174.3:c.4621C=	NP_001274103.1:p.His1541=