Canonical Allele Identifier: CA379790216

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418473G>T (hg19) ; chr11:g.17396926G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396926G>T , CM000673.2:g.17396926G>T	GRCh38
NC_000011.9:g.17418473G>T , CM000673.1:g.17418473G>T	GRCh37
NC_000011.8:g.17375049G>T	NCBI36
NG_008867.1:g.84977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3710C>A
ENST00000528374.2:c.700C>A
ENST00000529967.6:n.2448C>A
ENST00000532220.2:n.2357C>A
ENST00000642611.2:n.4324C>A
ENST00000644057.2:n.552C>A
ENST00000645004.2:n.1608C>A
ENST00000682051.1:n.4271C>A
ENST00000682110.1:n.4324C>A
ENST00000682140.1:c.3985+267C>A	ENSP00000507829.1:n.3985+267C>A
ENST00000682185.1:n.5414C>A
ENST00000682204.1:c.*2247C>A	ENSP00000507094.1:n.*2247C>A
ENST00000682215.1:n.4691C>A
ENST00000682288.1:c.*2540C>A	ENSP00000507506.1:n.*2540C>A
ENST00000682442.1:n.4544C>A
ENST00000682528.1:n.4401C>A
ENST00000682673.1:n.4268C>A
ENST00000682805.1:n.4691C>A
ENST00000682965.1:c.*531C>A	ENSP00000508229.1:n.*531C>A
ENST00000683093.1:n.4423C>A
ENST00000683136.1:c.3992C>A	ENSP00000507768.1:p.Pro1331His
ENST00000683153.1:n.4366C>A
ENST00000683365.1:n.4426C>A
ENST00000683377.1:n.4324C>A
ENST00000683456.1:c.*1246C>A	ENSP00000508318.1:n.*1246C>A
ENST00000683522.1:n.4324C>A
ENST00000683562.1:c.*2278C>A	ENSP00000508265.1:n.*2278C>A
ENST00000683693.1:n.4771C>A
ENST00000683725.1:c.4109C>A	ENSP00000507496.1:p.Pro1370His
ENST00000684010.1:n.4319C>A
ENST00000684157.1:n.4324C>A
ENST00000684253.1:n.4227C>A
ENST00000684288.1:c.*2281C>A	ENSP00000507143.1:n.*2281C>A
ENST00000684313.1:n.3756C>A
ENST00000684332.1:n.4397C>A
ENST00000684371.1:n.4430C>A
ENST00000684404.1:n.4367C>A
ENST00000684442.1:n.4548C>A
ENST00000684555.1:c.*2321C>A	ENSP00000507705.1:n.*2321C>A
ENST00000684571.1:c.3950C>A	ENSP00000506935.1:p.Pro1317His
ENST00000684593.1:c.*3814C>A	ENSP00000507005.1:n.*3814C>A
ENST00000684711.1:c.*2505C>A	ENSP00000506841.1:n.*2505C>A
ENST00000302539.9:c.4112C>A	ENSP00000303960.4:p.Pro1371His
ENST00000389817.8:c.4109C>A MANE Select	ENSP00000374467.4:p.Pro1370His
ENST00000642271.1:c.4106C>A	ENSP00000493749.1:p.Pro1369His
ENST00000642579.1:c.2163C>A
ENST00000642611.1:n.4209C>A
ENST00000642902.1:c.3891C>A
ENST00000643260.1:c.4109C>A	ENSP00000494450.1:p.Pro1370His
ENST00000643562.1:c.*2231C>A	ENSP00000496124.1:n.*2231C>A
ENST00000643925.1:c.2749C>A
ENST00000644057.1:n.186C>A
ENST00000644484.1:c.*2510C>A	ENSP00000493558.1:n.*2510C>A
ENST00000644675.1:c.*2281C>A	ENSP00000494567.1:n.*2281C>A
ENST00000644757.1:c.*2540C>A	ENSP00000495085.1:n.*2540C>A
ENST00000644772.1:c.4175C>A	ENSP00000494321.1:p.Pro1392His
ENST00000645004.1:n.1764C>A
ENST00000645076.1:c.3308C>A
ENST00000645417.1:c.1297C>A
ENST00000645744.1:c.*2889C>A	ENSP00000494564.1:n.*2889C>A
ENST00000645760.1:c.4530C>A
ENST00000645884.1:c.*1392C>A	ENSP00000495516.1:n.*1392C>A
ENST00000646003.1:c.*2211C>A	ENSP00000495259.1:n.*2211C>A
ENST00000646207.1:c.*2946C>A	ENSP00000495025.1:n.*2946C>A
ENST00000646276.1:c.*2528C>A	ENSP00000496070.1:n.*2528C>A
ENST00000646592.1:c.3415C>A
ENST00000646902.1:c.4076C>A	ENSP00000494101.1:p.Pro1359His
ENST00000646993.1:c.*2651C>A	ENSP00000493720.1:n.*2651C>A
ENST00000647013.1:c.4115C>A	ENSP00000496741.1:n.4115C>A
ENST00000647015.1:c.3860C>A	ENSP00000495389.1:p.Pro1287His
ENST00000647086.1:c.*3695C>A	ENSP00000493677.1:n.*3695C>A
ENST00000647158.1:c.*2396C>A	ENSP00000495744.1:n.*2396C>A
ENST00000302539.8:c.4112C>A	ENSP00000303960.4:p.Pro1371His
ENST00000389817.7:c.4109C>A	ENSP00000374467.3:p.Pro1370His
ENST00000527905.5:c.*1131C>A	ENSP00000431653.1:n.*1131C>A
ENST00000528374.1:c.591C>A
ENST00000532220.1:n.583C>A
NM_000352.4:c.4109C>A	NP_000343.2:p.Pro1370His
NM_001287174.1:c.4112C>A	NP_001274103.1:p.Pro1371His
XM_011520331.1:c.4109C>A	XP_011518633.1:p.Pro1370His
XM_011520332.1:c.4112C>A	XP_011518634.1:p.Pro1371His
XM_011520333.1:c.2609C>A	XP_011518635.1:p.Pro870His
XR_930890.1:n.4175C>A
NM_001351295.1:c.4175C>A	NP_001338224.1:p.Pro1392His
NM_001351296.1:c.4109C>A	NP_001338225.1:p.Pro1370His
NM_001351297.1:c.4106C>A	NP_001338226.1:p.Pro1369His
NR_147094.1:n.4404C>A
XM_017018197.2:c.4178C>A	XP_016873686.1:p.Pro1393His
XM_017018199.1:c.4175C>A	XP_016873688.1:p.Pro1392His
XM_017018201.2:c.4178C>A	XP_016873690.1:p.Pro1393His
XM_017018202.1:c.2675C>A	XP_016873691.1:p.Pro892His
XM_017018204.1:c.2066C>A	XP_016873693.1:p.Pro689His
XM_024448668.1:c.2477C>A	XP_024304436.1:p.Pro826His
XR_001747945.2:n.4250C>A
XR_001747946.2:n.4181C>A
XR_002957189.1:n.4846C>A
NM_000352.6:c.4109C>A MANE Select	NP_000343.2:p.Pro1370His
NM_001287174.2:c.4112C>A	NP_001274103.1:p.Pro1371His
NM_001351295.2:c.4175C>A	NP_001338224.1:p.Pro1392His
NM_001351296.2:c.4109C>A	NP_001338225.1:p.Pro1370His
NM_001351297.2:c.4106C>A	NP_001338226.1:p.Pro1369His
NR_147094.2:n.4404C>A
NM_001287174.3:c.4112C>A	NP_001274103.1:p.Pro1371His