Canonical Allele Identifier: CA1955121994

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393120C= , CM000673.2:g.17393120C=	GRCh38
NC_000011.9:g.17414667C= , CM000673.1:g.17414667C=	GRCh37
NC_000011.8:g.17371243C=	NCBI36
NG_008867.1:g.88783G=
NG_012446.1:g.540G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4218G=
ENST00000526037.6:n.552G=
ENST00000528374.2:c.1208G=
ENST00000529967.6:n.2956G=
ENST00000532220.2:n.3850G=
ENST00000642611.2:n.5950G=
ENST00000644057.2:n.1193G=
ENST00000645004.2:n.2116G=
ENST00000682051.1:n.4779G=
ENST00000682110.1:n.4832G=
ENST00000682140.1:c.*403G=	ENSP00000507829.1:n.*403G=
ENST00000682185.1:n.5922G=
ENST00000682204.1:c.*2755G=	ENSP00000507094.1:n.*2755G=
ENST00000682215.1:n.5199G=
ENST00000682288.1:c.*3048G=	ENSP00000507506.1:n.*3048G=
ENST00000682442.1:n.5052G=
ENST00000682528.1:n.4909G=
ENST00000682673.1:n.4776G=
ENST00000682805.1:n.5237G=
ENST00000682965.1:c.*1039G=	ENSP00000508229.1:n.*1039G=
ENST00000683093.1:n.5812G=
ENST00000683136.1:c.4500G=	ENSP00000507768.1:p.Val1500=
ENST00000683153.1:n.4874G=
ENST00000683365.1:n.4934G=
ENST00000683377.1:n.4728G=
ENST00000683456.1:c.*1754G=	ENSP00000508318.1:n.*1754G=
ENST00000683522.1:n.4914G=
ENST00000683562.1:c.*2682G=	ENSP00000508265.1:n.*2682G=
ENST00000683693.1:n.6293G=
ENST00000683725.1:c.*82G=	ENSP00000507496.1:n.*82G=
ENST00000684010.1:n.4827G=
ENST00000684014.1:n.804G=
ENST00000684157.1:n.5817G=
ENST00000684253.1:n.4735G=
ENST00000684288.1:c.*2789G=	ENSP00000507143.1:n.*2789G=
ENST00000684313.1:n.4264G=
ENST00000684332.1:n.4905G=
ENST00000684371.1:n.4938G=
ENST00000684404.1:n.5860G=
ENST00000684442.1:n.5056G=
ENST00000684555.1:c.*2829G=	ENSP00000507705.1:n.*2829G=
ENST00000684571.1:c.4458G=	ENSP00000506935.1:p.Val1486=
ENST00000684593.1:c.*4322G=	ENSP00000507005.1:n.*4322G=
ENST00000684711.1:c.*3013G=	ENSP00000506841.1:n.*3013G=
ENST00000302539.9:c.4620G=	ENSP00000303960.4:p.Val1540=
ENST00000389817.8:c.4617G= MANE Select	ENSP00000374467.4:p.Val1539=
ENST00000642271.1:c.4614G=	ENSP00000493749.1:p.Val1538=
ENST00000642579.1:c.2671G=
ENST00000642611.1:n.5835G=
ENST00000642902.1:c.4399G=
ENST00000643260.1:c.4617G=	ENSP00000494450.1:p.Val1539=
ENST00000643562.1:c.*2739G=	ENSP00000496124.1:n.*2739G=
ENST00000643925.1:c.3194G=
ENST00000644057.1:n.776G=
ENST00000644484.1:c.*4003G=	ENSP00000493558.1:n.*4003G=
ENST00000644675.1:c.*2789G=	ENSP00000494567.1:n.*2789G=
ENST00000644757.1:c.*3203-140G=	ENSP00000495085.1:n.*3203-140G=
ENST00000644772.1:c.4683G=	ENSP00000494321.1:p.Val1561=
ENST00000645004.1:n.2310G=
ENST00000645076.1:c.3712G=
ENST00000645417.1:c.1805G=
ENST00000645744.1:c.*4302G=	ENSP00000494564.1:n.*4302G=
ENST00000645760.1:c.5038G=
ENST00000645884.1:c.*1900G=	ENSP00000495516.1:n.*1900G=
ENST00000646003.1:c.*2639G=	ENSP00000495259.1:n.*2639G=
ENST00000646207.1:c.*3454G=	ENSP00000495025.1:n.*3454G=
ENST00000646276.1:c.*4021G=	ENSP00000496070.1:n.*4021G=
ENST00000646592.1:c.3923G=
ENST00000646902.1:c.4584G=	ENSP00000494101.1:p.Val1528=
ENST00000646993.1:c.*3055G=	ENSP00000493720.1:n.*3055G=
ENST00000647015.1:c.4368G=	ENSP00000495389.1:p.Val1456=
ENST00000647086.1:c.*4203G=	ENSP00000493677.1:n.*4203G=
ENST00000647158.1:c.*2904G=	ENSP00000495744.1:n.*2904G=
ENST00000302539.8:c.4620G=	ENSP00000303960.4:p.Val1540=
ENST00000389817.7:c.4617G=	ENSP00000374467.3:p.Val1539=
ENST00000525022.1:n.596G=
ENST00000526037.5:n.377G=
ENST00000526168.5:c.405G=
ENST00000531642.5:c.648G=
NM_000352.4:c.4617G=	NP_000343.2:p.Val1539=
NM_001287174.1:c.4620G=	NP_001274103.1:p.Val1540=
XM_011520331.1:c.4617G=	XP_011518633.1:p.Val1539=
XM_011520333.1:c.3117G=	XP_011518635.1:p.Val1039=
XR_930890.1:n.4579G=
NM_001351295.1:c.4683G=	NP_001338224.1:p.Val1561=
NM_001351296.1:c.4617G=	NP_001338225.1:p.Val1539=
NM_001351297.1:c.4614G=	NP_001338226.1:p.Val1538=
NR_147094.1:n.4912G=
XM_017018197.2:c.4686G=	XP_016873686.1:p.Val1562=
XM_017018199.1:c.4683G=	XP_016873688.1:p.Val1561=
XM_017018202.1:c.3183G=	XP_016873691.1:p.Val1061=
XM_017018204.1:c.2574G=	XP_016873693.1:p.Val858=
XM_024448668.1:c.2985G=	XP_024304436.1:p.Val995=
XR_001747945.2:n.4654G=
XR_001747946.2:n.4585G=
XR_002957189.1:n.6368G=
NM_000352.6:c.4617G= MANE Select	NP_000343.2:p.Val1539=
NM_001287174.2:c.4620G=	NP_001274103.1:p.Val1540=
NM_001351295.2:c.4683G=	NP_001338224.1:p.Val1561=
NM_001351296.2:c.4617G=	NP_001338225.1:p.Val1539=
NM_001351297.2:c.4614G=	NP_001338226.1:p.Val1538=
NR_147094.2:n.4912G=
NM_001287174.3:c.4620G=	NP_001274103.1:p.Val1540=