Canonical Allele Identifier: CA1955122303

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393724G= , CM000673.2:g.17393724G=	GRCh38
NC_000011.9:g.17415271G= , CM000673.1:g.17415271G=	GRCh37
NC_000011.8:g.17371847G=	NCBI36
NG_008867.1:g.88179C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4182C=
ENST00000526037.6:n.516C=
ENST00000528374.2:c.1172C=
ENST00000529967.6:n.2920C=
ENST00000532220.2:n.3814C=
ENST00000642611.2:n.5914C=
ENST00000644057.2:n.1157C=
ENST00000645004.2:n.2080C=
ENST00000682051.1:n.4743C=
ENST00000682110.1:n.4796C=
ENST00000682140.1:c.*367C=	ENSP00000507829.1:n.*367C=
ENST00000682185.1:n.5886C=
ENST00000682204.1:c.*2719C=	ENSP00000507094.1:n.*2719C=
ENST00000682215.1:n.5163C=
ENST00000682288.1:c.*3012C=	ENSP00000507506.1:n.*3012C=
ENST00000682442.1:n.5016C=
ENST00000682528.1:n.4873C=
ENST00000682673.1:n.4740C=
ENST00000682805.1:n.5201C=
ENST00000682965.1:c.*1003C=	ENSP00000508229.1:n.*1003C=
ENST00000683093.1:n.5776C=
ENST00000683136.1:c.4464C=	ENSP00000507768.1:p.Phe1488=
ENST00000683153.1:n.4838C=
ENST00000683365.1:n.4898C=
ENST00000683377.1:n.4692C=
ENST00000683456.1:c.*1718C=	ENSP00000508318.1:n.*1718C=
ENST00000683522.1:n.4878C=
ENST00000683562.1:c.*2646C=	ENSP00000508265.1:n.*2646C=
ENST00000683693.1:n.6257C=
ENST00000683725.1:c.*46C=	ENSP00000507496.1:n.*46C=
ENST00000684010.1:n.4791C=
ENST00000684014.1:n.768C=
ENST00000684157.1:n.5781C=
ENST00000684253.1:n.4699C=
ENST00000684288.1:c.*2753C=	ENSP00000507143.1:n.*2753C=
ENST00000684313.1:n.4228C=
ENST00000684332.1:n.4869C=
ENST00000684371.1:n.4902C=
ENST00000684404.1:n.5824C=
ENST00000684442.1:n.5020C=
ENST00000684555.1:c.*2793C=	ENSP00000507705.1:n.*2793C=
ENST00000684571.1:c.4422C=	ENSP00000506935.1:p.Phe1474=
ENST00000684593.1:c.*4286C=	ENSP00000507005.1:n.*4286C=
ENST00000684711.1:c.*2977C=	ENSP00000506841.1:n.*2977C=
ENST00000302539.9:c.4584C=	ENSP00000303960.4:p.Phe1528=
ENST00000389817.8:c.4581C= MANE Select	ENSP00000374467.4:p.Phe1527=
ENST00000642271.1:c.4578C=	ENSP00000493749.1:p.Phe1526=
ENST00000642579.1:c.2635C=
ENST00000642611.1:n.5799C=
ENST00000642902.1:c.4363C=
ENST00000643260.1:c.4581C=	ENSP00000494450.1:p.Phe1527=
ENST00000643562.1:c.*2703C=	ENSP00000496124.1:n.*2703C=
ENST00000643925.1:c.3185+542C=
ENST00000644057.1:n.740C=
ENST00000644484.1:c.*3967C=	ENSP00000493558.1:n.*3967C=
ENST00000644675.1:c.*2753C=	ENSP00000494567.1:n.*2753C=
ENST00000644757.1:c.*3203-744C=	ENSP00000495085.1:n.*3203-744C=
ENST00000644772.1:c.4647C=	ENSP00000494321.1:p.Phe1549=
ENST00000645004.1:n.2274C=
ENST00000645076.1:c.3676C=
ENST00000645417.1:c.1769C=
ENST00000645744.1:c.*4266C=	ENSP00000494564.1:n.*4266C=
ENST00000645760.1:c.5002C=
ENST00000645884.1:c.*1864C=	ENSP00000495516.1:n.*1864C=
ENST00000646003.1:c.*2603C=	ENSP00000495259.1:n.*2603C=
ENST00000646207.1:c.*3418C=	ENSP00000495025.1:n.*3418C=
ENST00000646276.1:c.*3985C=	ENSP00000496070.1:n.*3985C=
ENST00000646592.1:c.3887C=
ENST00000646902.1:c.4548C=	ENSP00000494101.1:p.Phe1516=
ENST00000646993.1:c.*3019C=	ENSP00000493720.1:n.*3019C=
ENST00000647015.1:c.4332C=	ENSP00000495389.1:p.Phe1444=
ENST00000647086.1:c.*4167C=	ENSP00000493677.1:n.*4167C=
ENST00000647158.1:c.*2868C=	ENSP00000495744.1:n.*2868C=
ENST00000302539.8:c.4584C=	ENSP00000303960.4:p.Phe1528=
ENST00000389817.7:c.4581C=	ENSP00000374467.3:p.Phe1527=
ENST00000525022.1:n.476C=
ENST00000526037.5:n.341C=
ENST00000526168.5:c.369C=
ENST00000531642.5:c.612C=
NM_000352.4:c.4581C=	NP_000343.2:p.Phe1527=
NM_001287174.1:c.4584C=	NP_001274103.1:p.Phe1528=
XM_011520331.1:c.4581C=	XP_011518633.1:p.Phe1527=
XM_011520333.1:c.3081C=	XP_011518635.1:p.Phe1027=
XR_930890.1:n.4543C=
NM_001351295.1:c.4647C=	NP_001338224.1:p.Phe1549=
NM_001351296.1:c.4581C=	NP_001338225.1:p.Phe1527=
NM_001351297.1:c.4578C=	NP_001338226.1:p.Phe1526=
NR_147094.1:n.4876C=
XM_017018197.2:c.4650C=	XP_016873686.1:p.Phe1550=
XM_017018199.1:c.4647C=	XP_016873688.1:p.Phe1549=
XM_017018202.1:c.3147C=	XP_016873691.1:p.Phe1049=
XM_017018204.1:c.2538C=	XP_016873693.1:p.Phe846=
XM_024448668.1:c.2949C=	XP_024304436.1:p.Phe983=
XR_001747945.2:n.4618C=
XR_001747946.2:n.4549C=
XR_002957189.1:n.6332C=
NM_000352.6:c.4581C= MANE Select	NP_000343.2:p.Phe1527=
NM_001287174.2:c.4584C=	NP_001274103.1:p.Phe1528=
NM_001351295.2:c.4647C=	NP_001338224.1:p.Phe1549=
NM_001351296.2:c.4581C=	NP_001338225.1:p.Phe1527=
NM_001351297.2:c.4578C=	NP_001338226.1:p.Phe1526=
NR_147094.2:n.4876C=
NM_001287174.3:c.4584C=	NP_001274103.1:p.Phe1528=