Canonical Allele Identifier: CA1955123950

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397046G= , CM000673.2:g.17397046G=	GRCh38
NC_000011.9:g.17418593G= , CM000673.1:g.17418593G=	GRCh37
NC_000011.8:g.17375169G=	NCBI36
NG_008867.1:g.84857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3590C=
ENST00000528374.2:c.580C=
ENST00000529967.6:n.2328C=
ENST00000532220.2:n.2237C=
ENST00000642611.2:n.4204C=
ENST00000644057.2:n.432C=
ENST00000645004.2:n.1488C=
ENST00000682051.1:n.4151C=
ENST00000682110.1:n.4204C=
ENST00000682140.1:c.3985+147C=	ENSP00000507829.1:n.3985+147C=
ENST00000682185.1:n.5294C=
ENST00000682204.1:c.*2127C=	ENSP00000507094.1:n.*2127C=
ENST00000682215.1:n.4571C=
ENST00000682288.1:c.*2420C=	ENSP00000507506.1:n.*2420C=
ENST00000682442.1:n.4424C=
ENST00000682528.1:n.4281C=
ENST00000682673.1:n.4148C=
ENST00000682805.1:n.4571C=
ENST00000682965.1:c.*411C=	ENSP00000508229.1:n.*411C=
ENST00000683093.1:n.4303C=
ENST00000683136.1:c.3872C=	ENSP00000507768.1:p.Ala1291=
ENST00000683153.1:n.4246C=
ENST00000683365.1:n.4306C=
ENST00000683377.1:n.4204C=
ENST00000683456.1:c.*1126C=	ENSP00000508318.1:n.*1126C=
ENST00000683522.1:n.4204C=
ENST00000683562.1:c.*2158C=	ENSP00000508265.1:n.*2158C=
ENST00000683693.1:n.4651C=
ENST00000683725.1:c.3989C=	ENSP00000507496.1:p.Ala1330=
ENST00000684010.1:n.4199C=
ENST00000684157.1:n.4204C=
ENST00000684253.1:n.4107C=
ENST00000684288.1:c.*2161C=	ENSP00000507143.1:n.*2161C=
ENST00000684313.1:n.3636C=
ENST00000684332.1:n.4277C=
ENST00000684371.1:n.4310C=
ENST00000684404.1:n.4247C=
ENST00000684442.1:n.4428C=
ENST00000684555.1:c.*2201C=	ENSP00000507705.1:n.*2201C=
ENST00000684571.1:c.3830C=	ENSP00000506935.1:p.Ala1277=
ENST00000684593.1:c.*3694C=	ENSP00000507005.1:n.*3694C=
ENST00000684711.1:c.*2385C=	ENSP00000506841.1:n.*2385C=
ENST00000302539.9:c.3992C=	ENSP00000303960.4:p.Ala1331=
ENST00000389817.8:c.3989C= MANE Select	ENSP00000374467.4:p.Ala1330=
ENST00000642271.1:c.3986C=	ENSP00000493749.1:p.Ala1329=
ENST00000642579.1:c.2073-30C=
ENST00000642611.1:n.4089C=
ENST00000642902.1:c.3771C=
ENST00000643260.1:c.3989C=	ENSP00000494450.1:p.Ala1330=
ENST00000643562.1:c.*2111C=	ENSP00000496124.1:n.*2111C=
ENST00000643925.1:c.2629C=
ENST00000644057.1:n.66C=
ENST00000644484.1:c.*2390C=	ENSP00000493558.1:n.*2390C=
ENST00000644675.1:c.*2161C=	ENSP00000494567.1:n.*2161C=
ENST00000644757.1:c.*2420C=	ENSP00000495085.1:n.*2420C=
ENST00000644772.1:c.4055C=	ENSP00000494321.1:p.Ala1352=
ENST00000645004.1:n.1644C=
ENST00000645076.1:c.3188C=
ENST00000645417.1:c.1177C=
ENST00000645744.1:c.*2769C=	ENSP00000494564.1:n.*2769C=
ENST00000645760.1:c.4410C=
ENST00000645884.1:c.*1272C=	ENSP00000495516.1:n.*1272C=
ENST00000646003.1:c.*2091C=	ENSP00000495259.1:n.*2091C=
ENST00000646207.1:c.*2826C=	ENSP00000495025.1:n.*2826C=
ENST00000646276.1:c.*2408C=	ENSP00000496070.1:n.*2408C=
ENST00000646592.1:c.3295C=
ENST00000646902.1:c.3986-30C=	ENSP00000494101.1:n.3986-30C=
ENST00000646993.1:c.*2531C=	ENSP00000493720.1:n.*2531C=
ENST00000647013.1:c.3995C=	ENSP00000496741.1:n.3995C=
ENST00000647015.1:c.3740C=	ENSP00000495389.1:p.Ala1247=
ENST00000647086.1:c.*3605-30C=	ENSP00000493677.1:n.*3605-30C=
ENST00000647158.1:c.*2276C=	ENSP00000495744.1:n.*2276C=
ENST00000302539.8:c.3992C=	ENSP00000303960.4:p.Ala1331=
ENST00000389817.7:c.3989C=	ENSP00000374467.3:p.Ala1330=
ENST00000527905.5:c.*1011C=	ENSP00000431653.1:n.*1011C=
ENST00000528374.1:c.471C=
ENST00000531137.1:n.554C=
ENST00000531891.1:c.357-30C=
ENST00000532220.1:n.463C=
NM_000352.4:c.3989C=	NP_000343.2:p.Ala1330=
NM_001287174.1:c.3992C=	NP_001274103.1:p.Ala1331=
XM_011520331.1:c.3989C=	XP_011518633.1:p.Ala1330=
XM_011520332.1:c.3992C=	XP_011518634.1:p.Ala1331=
XM_011520333.1:c.2489C=	XP_011518635.1:p.Ala830=
XR_930890.1:n.4055C=
NM_001351295.1:c.4055C=	NP_001338224.1:p.Ala1352=
NM_001351296.1:c.3989C=	NP_001338225.1:p.Ala1330=
NM_001351297.1:c.3986C=	NP_001338226.1:p.Ala1329=
NR_147094.1:n.4284C=
XM_017018197.2:c.4058C=	XP_016873686.1:p.Ala1353=
XM_017018199.1:c.4055C=	XP_016873688.1:p.Ala1352=
XM_017018201.2:c.4058C=	XP_016873690.1:p.Ala1353=
XM_017018202.1:c.2555C=	XP_016873691.1:p.Ala852=
XM_017018204.1:c.1946C=	XP_016873693.1:p.Ala649=
XM_024448668.1:c.2357C=	XP_024304436.1:p.Ala786=
XR_001747945.2:n.4130C=
XR_001747946.2:n.4061C=
XR_002957189.1:n.4726C=
NM_000352.6:c.3989C= MANE Select	NP_000343.2:p.Ala1330=
NM_001287174.2:c.3992C=	NP_001274103.1:p.Ala1331=
NM_001351295.2:c.4055C=	NP_001338224.1:p.Ala1352=
NM_001351296.2:c.3989C=	NP_001338225.1:p.Ala1330=
NM_001351297.2:c.3986C=	NP_001338226.1:p.Ala1329=
NR_147094.2:n.4284C=
NM_001287174.3:c.3992C=	NP_001274103.1:p.Ala1331=