Canonical Allele Identifier: CA473298058

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415828G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394281G>A , CM000673.2:g.17394281G>A	GRCh38
NC_000011.9:g.17415828G>A , CM000673.1:g.17415828G>A	GRCh37
NC_000011.8:g.17372404G>A	NCBI36
NG_008867.1:g.87622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4131C>T
ENST00000526037.6:n.465C>T
ENST00000528374.2:c.1121C>T
ENST00000529967.6:n.2869C>T
ENST00000532220.2:n.3763C>T
ENST00000642611.2:n.5863C>T
ENST00000644057.2:n.1106C>T
ENST00000645004.2:n.2029C>T
ENST00000682051.1:n.4692C>T
ENST00000682110.1:n.4745C>T
ENST00000682140.1:c.*316C>T	ENSP00000507829.1:n.*316C>T
ENST00000682185.1:n.5835C>T
ENST00000682204.1:c.*2668C>T	ENSP00000507094.1:n.*2668C>T
ENST00000682215.1:n.5112C>T
ENST00000682288.1:c.*2961C>T	ENSP00000507506.1:n.*2961C>T
ENST00000682442.1:n.4965C>T
ENST00000682528.1:n.4822C>T
ENST00000682673.1:n.4689C>T
ENST00000682805.1:n.5150C>T
ENST00000682965.1:c.*952C>T	ENSP00000508229.1:n.*952C>T
ENST00000683093.1:n.5725C>T
ENST00000683136.1:c.4413C>T	ENSP00000507768.1:p.Ser1471=
ENST00000683153.1:n.4787C>T
ENST00000683365.1:n.4847C>T
ENST00000683377.1:n.4641C>T
ENST00000683456.1:c.*1667C>T	ENSP00000508318.1:n.*1667C>T
ENST00000683522.1:n.4827C>T
ENST00000683562.1:c.*2595C>T	ENSP00000508265.1:n.*2595C>T
ENST00000683693.1:n.6206C>T
ENST00000683725.1:c.4426C>T	ENSP00000507496.1:p.His1476Tyr
ENST00000684010.1:n.4740C>T
ENST00000684014.1:n.717C>T
ENST00000684157.1:n.5730C>T
ENST00000684253.1:n.4648C>T
ENST00000684288.1:c.*2702C>T	ENSP00000507143.1:n.*2702C>T
ENST00000684313.1:n.4177C>T
ENST00000684332.1:n.4818C>T
ENST00000684371.1:n.4851C>T
ENST00000684404.1:n.5773C>T
ENST00000684442.1:n.4969C>T
ENST00000684555.1:c.*2742C>T	ENSP00000507705.1:n.*2742C>T
ENST00000684571.1:c.4371C>T	ENSP00000506935.1:p.Ser1457=
ENST00000684593.1:c.*4235C>T	ENSP00000507005.1:n.*4235C>T
ENST00000684711.1:c.*2926C>T	ENSP00000506841.1:n.*2926C>T
ENST00000302539.9:c.4533C>T	ENSP00000303960.4:p.Ser1511=
ENST00000389817.8:c.4530C>T MANE Select	ENSP00000374467.4:p.Ser1510=
ENST00000642271.1:c.4527C>T	ENSP00000493749.1:p.Ser1509=
ENST00000642579.1:c.2584C>T
ENST00000642611.1:n.5748C>T
ENST00000642902.1:c.4312C>T
ENST00000643260.1:c.4530C>T	ENSP00000494450.1:p.Ser1510=
ENST00000643562.1:c.*2652C>T	ENSP00000496124.1:n.*2652C>T
ENST00000643925.1:c.3170C>T
ENST00000644057.1:n.689C>T
ENST00000644484.1:c.*3916C>T	ENSP00000493558.1:n.*3916C>T
ENST00000644675.1:c.*2702C>T	ENSP00000494567.1:n.*2702C>T
ENST00000644757.1:c.*3203-1301C>T	ENSP00000495085.1:n.*3203-1301C>T
ENST00000644772.1:c.4596C>T	ENSP00000494321.1:p.Ser1532=
ENST00000645004.1:n.2223C>T
ENST00000645076.1:c.3625C>T
ENST00000645417.1:c.1718C>T
ENST00000645744.1:c.*4215C>T	ENSP00000494564.1:n.*4215C>T
ENST00000645760.1:c.4951C>T
ENST00000645884.1:c.*1813C>T	ENSP00000495516.1:n.*1813C>T
ENST00000646003.1:c.*2552C>T	ENSP00000495259.1:n.*2552C>T
ENST00000646207.1:c.*3367C>T	ENSP00000495025.1:n.*3367C>T
ENST00000646276.1:c.*3934C>T	ENSP00000496070.1:n.*3934C>T
ENST00000646592.1:c.3836C>T
ENST00000646902.1:c.4497C>T	ENSP00000494101.1:p.Ser1499=
ENST00000646993.1:c.*2968C>T	ENSP00000493720.1:n.*2968C>T
ENST00000647015.1:c.4281C>T	ENSP00000495389.1:p.Ser1427=
ENST00000647086.1:c.*4116C>T	ENSP00000493677.1:n.*4116C>T
ENST00000647158.1:c.*2817C>T	ENSP00000495744.1:n.*2817C>T
ENST00000302539.8:c.4533C>T	ENSP00000303960.4:p.Ser1511=
ENST00000389817.7:c.4530C>T	ENSP00000374467.3:p.Ser1510=
ENST00000525022.1:n.425C>T
ENST00000526037.5:n.290C>T
ENST00000526168.5:c.318C>T
ENST00000531642.5:c.561C>T
NM_000352.4:c.4530C>T	NP_000343.2:p.Ser1510=
NM_001287174.1:c.4533C>T	NP_001274103.1:p.Ser1511=
XM_011520331.1:c.4530C>T	XP_011518633.1:p.Ser1510=
XM_011520332.1:c.4429C>T	XP_011518634.1:p.His1477Tyr
XM_011520333.1:c.3030C>T	XP_011518635.1:p.Ser1010=
XR_930890.1:n.4492C>T
NM_001351295.1:c.4596C>T	NP_001338224.1:p.Ser1532=
NM_001351296.1:c.4530C>T	NP_001338225.1:p.Ser1510=
NM_001351297.1:c.4527C>T	NP_001338226.1:p.Ser1509=
NR_147094.1:n.4825C>T
XM_017018197.2:c.4599C>T	XP_016873686.1:p.Ser1533=
XM_017018199.1:c.4596C>T	XP_016873688.1:p.Ser1532=
XM_017018201.2:c.4495C>T	XP_016873690.1:p.His1499Tyr
XM_017018202.1:c.3096C>T	XP_016873691.1:p.Ser1032=
XM_017018204.1:c.2487C>T	XP_016873693.1:p.Ser829=
XM_024448668.1:c.2898C>T	XP_024304436.1:p.Ser966=
XR_001747945.2:n.4567C>T
XR_001747946.2:n.4498C>T
XR_002957189.1:n.6281C>T
NM_000352.6:c.4530C>T MANE Select	NP_000343.2:p.Ser1510=
NM_001287174.2:c.4533C>T	NP_001274103.1:p.Ser1511=
NM_001351295.2:c.4596C>T	NP_001338224.1:p.Ser1532=
NM_001351296.2:c.4530C>T	NP_001338225.1:p.Ser1510=
NM_001351297.2:c.4527C>T	NP_001338226.1:p.Ser1509=
NR_147094.2:n.4825C>T
NM_001287174.3:c.4533C>T	NP_001274103.1:p.Ser1511=