Canonical Allele Identifier: CA379782773

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415829G>C (hg19) ; chr11:g.17394282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394282G>C , CM000673.2:g.17394282G>C	GRCh38
NC_000011.9:g.17415829G>C , CM000673.1:g.17415829G>C	GRCh37
NC_000011.8:g.17372405G>C	NCBI36
NG_008867.1:g.87621C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4130C>G
ENST00000526037.6:n.464C>G
ENST00000528374.2:c.1120C>G
ENST00000529967.6:n.2868C>G
ENST00000532220.2:n.3762C>G
ENST00000642611.2:n.5862C>G
ENST00000644057.2:n.1105C>G
ENST00000645004.2:n.2028C>G
ENST00000682051.1:n.4691C>G
ENST00000682110.1:n.4744C>G
ENST00000682140.1:c.*315C>G	ENSP00000507829.1:n.*315C>G
ENST00000682185.1:n.5834C>G
ENST00000682204.1:c.*2667C>G	ENSP00000507094.1:n.*2667C>G
ENST00000682215.1:n.5111C>G
ENST00000682288.1:c.*2960C>G	ENSP00000507506.1:n.*2960C>G
ENST00000682442.1:n.4964C>G
ENST00000682528.1:n.4821C>G
ENST00000682673.1:n.4688C>G
ENST00000682805.1:n.5149C>G
ENST00000682965.1:c.*951C>G	ENSP00000508229.1:n.*951C>G
ENST00000683093.1:n.5724C>G
ENST00000683136.1:c.4412C>G	ENSP00000507768.1:p.Ser1471Cys
ENST00000683153.1:n.4786C>G
ENST00000683365.1:n.4846C>G
ENST00000683377.1:n.4640C>G
ENST00000683456.1:c.*1666C>G	ENSP00000508318.1:n.*1666C>G
ENST00000683522.1:n.4826C>G
ENST00000683562.1:c.*2594C>G	ENSP00000508265.1:n.*2594C>G
ENST00000683693.1:n.6205C>G
ENST00000683725.1:c.4425C>G	ENSP00000507496.1:p.Phe1475Leu
ENST00000684010.1:n.4739C>G
ENST00000684014.1:n.716C>G
ENST00000684157.1:n.5729C>G
ENST00000684253.1:n.4647C>G
ENST00000684288.1:c.*2701C>G	ENSP00000507143.1:n.*2701C>G
ENST00000684313.1:n.4176C>G
ENST00000684332.1:n.4817C>G
ENST00000684371.1:n.4850C>G
ENST00000684404.1:n.5772C>G
ENST00000684442.1:n.4968C>G
ENST00000684555.1:c.*2741C>G	ENSP00000507705.1:n.*2741C>G
ENST00000684571.1:c.4370C>G	ENSP00000506935.1:p.Ser1457Cys
ENST00000684593.1:c.*4234C>G	ENSP00000507005.1:n.*4234C>G
ENST00000684711.1:c.*2925C>G	ENSP00000506841.1:n.*2925C>G
ENST00000302539.9:c.4532C>G	ENSP00000303960.4:p.Ser1511Cys
ENST00000389817.8:c.4529C>G MANE Select	ENSP00000374467.4:p.Ser1510Cys
ENST00000642271.1:c.4526C>G	ENSP00000493749.1:p.Ser1509Cys
ENST00000642579.1:c.2583C>G
ENST00000642611.1:n.5747C>G
ENST00000642902.1:c.4311C>G
ENST00000643260.1:c.4529C>G	ENSP00000494450.1:p.Ser1510Cys
ENST00000643562.1:c.*2651C>G	ENSP00000496124.1:n.*2651C>G
ENST00000643925.1:c.3169C>G
ENST00000644057.1:n.688C>G
ENST00000644484.1:c.*3915C>G	ENSP00000493558.1:n.*3915C>G
ENST00000644675.1:c.*2701C>G	ENSP00000494567.1:n.*2701C>G
ENST00000644757.1:c.*3203-1302C>G	ENSP00000495085.1:n.*3203-1302C>G
ENST00000644772.1:c.4595C>G	ENSP00000494321.1:p.Ser1532Cys
ENST00000645004.1:n.2222C>G
ENST00000645076.1:c.3624C>G
ENST00000645417.1:c.1717C>G
ENST00000645744.1:c.*4214C>G	ENSP00000494564.1:n.*4214C>G
ENST00000645760.1:c.4950C>G
ENST00000645884.1:c.*1812C>G	ENSP00000495516.1:n.*1812C>G
ENST00000646003.1:c.*2551C>G	ENSP00000495259.1:n.*2551C>G
ENST00000646207.1:c.*3366C>G	ENSP00000495025.1:n.*3366C>G
ENST00000646276.1:c.*3933C>G	ENSP00000496070.1:n.*3933C>G
ENST00000646592.1:c.3835C>G
ENST00000646902.1:c.4496C>G	ENSP00000494101.1:p.Ser1499Cys
ENST00000646993.1:c.*2967C>G	ENSP00000493720.1:n.*2967C>G
ENST00000647015.1:c.4280C>G	ENSP00000495389.1:p.Ser1427Cys
ENST00000647086.1:c.*4115C>G	ENSP00000493677.1:n.*4115C>G
ENST00000647158.1:c.*2816C>G	ENSP00000495744.1:n.*2816C>G
ENST00000302539.8:c.4532C>G	ENSP00000303960.4:p.Ser1511Cys
ENST00000389817.7:c.4529C>G	ENSP00000374467.3:p.Ser1510Cys
ENST00000525022.1:n.424C>G
ENST00000526037.5:n.289C>G
ENST00000526168.5:c.317C>G
ENST00000531642.5:c.560C>G
NM_000352.4:c.4529C>G	NP_000343.2:p.Ser1510Cys
NM_001287174.1:c.4532C>G	NP_001274103.1:p.Ser1511Cys
XM_011520331.1:c.4529C>G	XP_011518633.1:p.Ser1510Cys
XM_011520332.1:c.4428C>G	XP_011518634.1:p.Phe1476Leu
XM_011520333.1:c.3029C>G	XP_011518635.1:p.Ser1010Cys
XR_930890.1:n.4491C>G
NM_001351295.1:c.4595C>G	NP_001338224.1:p.Ser1532Cys
NM_001351296.1:c.4529C>G	NP_001338225.1:p.Ser1510Cys
NM_001351297.1:c.4526C>G	NP_001338226.1:p.Ser1509Cys
NR_147094.1:n.4824C>G
XM_017018197.2:c.4598C>G	XP_016873686.1:p.Ser1533Cys
XM_017018199.1:c.4595C>G	XP_016873688.1:p.Ser1532Cys
XM_017018201.2:c.4494C>G	XP_016873690.1:p.Phe1498Leu
XM_017018202.1:c.3095C>G	XP_016873691.1:p.Ser1032Cys
XM_017018204.1:c.2486C>G	XP_016873693.1:p.Ser829Cys
XM_024448668.1:c.2897C>G	XP_024304436.1:p.Ser966Cys
XR_001747945.2:n.4566C>G
XR_001747946.2:n.4497C>G
XR_002957189.1:n.6280C>G
NM_000352.6:c.4529C>G MANE Select	NP_000343.2:p.Ser1510Cys
NM_001287174.2:c.4532C>G	NP_001274103.1:p.Ser1511Cys
NM_001351295.2:c.4595C>G	NP_001338224.1:p.Ser1532Cys
NM_001351296.2:c.4529C>G	NP_001338225.1:p.Ser1510Cys
NM_001351297.2:c.4526C>G	NP_001338226.1:p.Ser1509Cys
NR_147094.2:n.4824C>G
NM_001287174.3:c.4532C>G	NP_001274103.1:p.Ser1511Cys