Canonical Allele Identifier: CA1955123220

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395621G= , CM000673.2:g.17395621G=	GRCh38
NC_000011.9:g.17417168G= , CM000673.1:g.17417168G=	GRCh37
NC_000011.8:g.17373744G=	NCBI36
NG_008867.1:g.86282C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3897C=
ENST00000528374.2:c.887C=
ENST00000529967.6:n.2635C=
ENST00000532220.2:n.3529C=
ENST00000642611.2:n.5629C=
ENST00000644057.2:n.872C=
ENST00000645004.2:n.1795C=
ENST00000682051.1:n.4458C=
ENST00000682110.1:n.4511C=
ENST00000682140.1:c.*82C=	ENSP00000507829.1:n.*82C=
ENST00000682185.1:n.5601C=
ENST00000682204.1:c.*2434C=	ENSP00000507094.1:n.*2434C=
ENST00000682215.1:n.4878C=
ENST00000682288.1:c.*2727C=	ENSP00000507506.1:n.*2727C=
ENST00000682442.1:n.4731C=
ENST00000682528.1:n.4588C=
ENST00000682673.1:n.4455C=
ENST00000682805.1:n.4916C=
ENST00000682965.1:c.*718C=	ENSP00000508229.1:n.*718C=
ENST00000683093.1:n.5595C=
ENST00000683136.1:c.4179C=	ENSP00000507768.1:p.Ser1393=
ENST00000683153.1:n.4553C=
ENST00000683365.1:n.4613C=
ENST00000683377.1:n.4511C=
ENST00000683456.1:c.*1433C=	ENSP00000508318.1:n.*1433C=
ENST00000683522.1:n.4511C=
ENST00000683562.1:c.*2465C=	ENSP00000508265.1:n.*2465C=
ENST00000683693.1:n.6076C=
ENST00000683725.1:c.4296C=	ENSP00000507496.1:p.Ser1432=
ENST00000684010.1:n.4506C=
ENST00000684157.1:n.5496C=
ENST00000684253.1:n.4414C=
ENST00000684288.1:c.*2468C=	ENSP00000507143.1:n.*2468C=
ENST00000684313.1:n.3943C=
ENST00000684332.1:n.4584C=
ENST00000684371.1:n.4617C=
ENST00000684404.1:n.5539C=
ENST00000684442.1:n.4735C=
ENST00000684555.1:c.*2508C=	ENSP00000507705.1:n.*2508C=
ENST00000684571.1:c.4137C=	ENSP00000506935.1:p.Ser1379=
ENST00000684593.1:c.*4001C=	ENSP00000507005.1:n.*4001C=
ENST00000684711.1:c.*2692C=	ENSP00000506841.1:n.*2692C=
ENST00000302539.9:c.4299C=	ENSP00000303960.4:p.Ser1433=
ENST00000389817.8:c.4296C= MANE Select	ENSP00000374467.4:p.Ser1432=
ENST00000642271.1:c.4293C=	ENSP00000493749.1:p.Ser1431=
ENST00000642579.1:c.2350C=
ENST00000642611.1:n.5514C=
ENST00000642902.1:c.4078C=
ENST00000643260.1:c.4296C=	ENSP00000494450.1:p.Ser1432=
ENST00000643562.1:c.*2418C=	ENSP00000496124.1:n.*2418C=
ENST00000643925.1:c.2936C=
ENST00000644057.1:n.373C=
ENST00000644484.1:c.*3682C=	ENSP00000493558.1:n.*3682C=
ENST00000644675.1:c.*2468C=	ENSP00000494567.1:n.*2468C=
ENST00000644757.1:c.*3202+643C=	ENSP00000495085.1:n.*3202+643C=
ENST00000644772.1:c.4362C=	ENSP00000494321.1:p.Ser1454=
ENST00000645004.1:n.1989C=
ENST00000645076.1:c.3495C=
ENST00000645417.1:c.1484C=
ENST00000645744.1:c.*3981C=	ENSP00000494564.1:n.*3981C=
ENST00000645760.1:c.4717C=
ENST00000645884.1:c.*1579C=	ENSP00000495516.1:n.*1579C=
ENST00000646003.1:c.*2318C=	ENSP00000495259.1:n.*2318C=
ENST00000646207.1:c.*3133C=	ENSP00000495025.1:n.*3133C=
ENST00000646276.1:c.*3700C=	ENSP00000496070.1:n.*3700C=
ENST00000646592.1:c.3602C=
ENST00000646902.1:c.4263C=	ENSP00000494101.1:p.Ser1421=
ENST00000646993.1:c.*2838C=	ENSP00000493720.1:n.*2838C=
ENST00000647013.1:c.4302C=	ENSP00000496741.1:n.4302C=
ENST00000647015.1:c.4047C=	ENSP00000495389.1:p.Ser1349=
ENST00000647086.1:c.*3882C=	ENSP00000493677.1:n.*3882C=
ENST00000647158.1:c.*2583C=	ENSP00000495744.1:n.*2583C=
ENST00000302539.8:c.4299C=	ENSP00000303960.4:p.Ser1433=
ENST00000389817.7:c.4296C=	ENSP00000374467.3:p.Ser1432=
ENST00000525022.1:n.295C=
ENST00000526037.5:n.160C=
ENST00000526168.5:c.84C=
ENST00000531642.5:c.132C=
NM_000352.4:c.4296C=	NP_000343.2:p.Ser1432=
NM_001287174.1:c.4299C=	NP_001274103.1:p.Ser1433=
XM_011520331.1:c.4296C=	XP_011518633.1:p.Ser1432=
XM_011520332.1:c.4299C=	XP_011518634.1:p.Ser1433=
XM_011520333.1:c.2796C=	XP_011518635.1:p.Ser932=
XR_930890.1:n.4362C=
NM_001351295.1:c.4362C=	NP_001338224.1:p.Ser1454=
NM_001351296.1:c.4296C=	NP_001338225.1:p.Ser1432=
NM_001351297.1:c.4293C=	NP_001338226.1:p.Ser1431=
NR_147094.1:n.4591C=
XM_017018197.2:c.4365C=	XP_016873686.1:p.Ser1455=
XM_017018199.1:c.4362C=	XP_016873688.1:p.Ser1454=
XM_017018201.2:c.4365C=	XP_016873690.1:p.Ser1455=
XM_017018202.1:c.2862C=	XP_016873691.1:p.Ser954=
XM_017018204.1:c.2253C=	XP_016873693.1:p.Ser751=
XM_024448668.1:c.2664C=	XP_024304436.1:p.Ser888=
XR_001747945.2:n.4437C=
XR_001747946.2:n.4368C=
XR_002957189.1:n.6151C=
NM_000352.6:c.4296C= MANE Select	NP_000343.2:p.Ser1432=
NM_001287174.2:c.4299C=	NP_001274103.1:p.Ser1433=
NM_001351295.2:c.4362C=	NP_001338224.1:p.Ser1454=
NM_001351296.2:c.4296C=	NP_001338225.1:p.Ser1432=
NM_001351297.2:c.4293C=	NP_001338226.1:p.Ser1431=
NR_147094.2:n.4591C=
NM_001287174.3:c.4299C=	NP_001274103.1:p.Ser1433=