Canonical Allele Identifier: CA379802969

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428321G>T (hg19) ; chr11:g.17406774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406774G>T , CM000673.2:g.17406774G>T	GRCh38
NC_000011.9:g.17428321G>T , CM000673.1:g.17428321G>T	GRCh37
NC_000011.8:g.17384897G>T	NCBI36
NG_008867.1:g.75129C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2746C>A
ENST00000529967.6:n.1516C>A
ENST00000532220.2:n.909C>A
ENST00000642611.2:n.3246C>A
ENST00000645004.2:n.676C>A
ENST00000682051.1:n.3193C>A
ENST00000682110.1:n.3246C>A
ENST00000682140.1:c.3174C>A	ENSP00000507829.1:p.Asp1058Glu
ENST00000682185.1:n.4482C>A
ENST00000682204.1:c.*1315C>A	ENSP00000507094.1:n.*1315C>A
ENST00000682215.1:n.3243C>A
ENST00000682288.1:c.*1608C>A	ENSP00000507506.1:n.*1608C>A
ENST00000682442.1:n.3466C>A
ENST00000682528.1:n.3323C>A
ENST00000682673.1:n.3190C>A
ENST00000682805.1:n.3243C>A
ENST00000682965.1:c.3174C>A	ENSP00000508229.1:p.Asp1058Glu
ENST00000683093.1:n.3345C>A
ENST00000683136.1:c.3174C>A	ENSP00000507768.1:p.Asp1058Glu
ENST00000683153.1:n.3402C>A
ENST00000683365.1:n.3348C>A
ENST00000683377.1:n.3246C>A
ENST00000683456.1:c.*314C>A	ENSP00000508318.1:n.*314C>A
ENST00000683522.1:n.3246C>A
ENST00000683562.1:c.*1346C>A	ENSP00000508265.1:n.*1346C>A
ENST00000683693.1:n.3323C>A
ENST00000683725.1:c.3177C>A	ENSP00000507496.1:p.Asp1059Glu
ENST00000684010.1:n.3241C>A
ENST00000684157.1:n.3246C>A
ENST00000684253.1:n.3149C>A
ENST00000684288.1:c.*1349C>A	ENSP00000507143.1:n.*1349C>A
ENST00000684313.1:n.2678C>A
ENST00000684332.1:n.3319C>A
ENST00000684371.1:n.3352C>A
ENST00000684404.1:n.3289C>A
ENST00000684442.1:n.3246C>A
ENST00000684555.1:c.*1389C>A	ENSP00000507705.1:n.*1389C>A
ENST00000684571.1:c.3018C>A	ENSP00000506935.1:p.Asp1006Glu
ENST00000684593.1:c.*2882C>A	ENSP00000507005.1:n.*2882C>A
ENST00000684711.1:c.*1573C>A	ENSP00000506841.1:n.*1573C>A
ENST00000302539.9:c.3180C>A	ENSP00000303960.4:p.Asp1060Glu
ENST00000389817.8:c.3177C>A MANE Select	ENSP00000374467.4:p.Asp1059Glu
ENST00000642271.1:c.3174C>A	ENSP00000493749.1:p.Asp1058Glu
ENST00000642579.1:c.1261C>A
ENST00000642611.1:n.3131C>A
ENST00000642902.1:c.2959C>A
ENST00000643260.1:c.3177C>A	ENSP00000494450.1:p.Asp1059Glu
ENST00000643562.1:c.*1153C>A	ENSP00000496124.1:n.*1153C>A
ENST00000643925.1:c.1301C>A
ENST00000644447.1:c.1533C>A	ENSP00000496282.1:p.Asp511Glu
ENST00000644484.1:c.*1432C>A	ENSP00000493558.1:n.*1432C>A
ENST00000644542.1:c.*2981C>A	ENSP00000495532.1:n.*2981C>A
ENST00000644675.1:c.*1349C>A	ENSP00000494567.1:n.*1349C>A
ENST00000644757.1:c.*1462C>A	ENSP00000495085.1:n.*1462C>A
ENST00000644772.1:c.3243C>A	ENSP00000494321.1:p.Asp1081Glu
ENST00000645004.1:n.316C>A
ENST00000645076.1:c.2376C>A
ENST00000645417.1:c.343C>A
ENST00000645744.1:c.*1441C>A	ENSP00000494564.1:n.*1441C>A
ENST00000645760.1:c.3452C>A
ENST00000645884.1:c.*314C>A	ENSP00000495516.1:n.*314C>A
ENST00000646003.1:c.*1133C>A	ENSP00000495259.1:n.*1133C>A
ENST00000646207.1:c.*1644C>A	ENSP00000495025.1:n.*1644C>A
ENST00000646276.1:c.*1450C>A	ENSP00000496070.1:n.*1450C>A
ENST00000646592.1:c.2483C>A
ENST00000646902.1:c.3174C>A	ENSP00000494101.1:p.Asp1058Glu
ENST00000646993.1:c.*1573C>A	ENSP00000493720.1:n.*1573C>A
ENST00000647013.1:c.3183C>A	ENSP00000496741.1:n.3183C>A
ENST00000647015.1:c.2928C>A	ENSP00000495389.1:p.Asp976Glu
ENST00000647086.1:c.*2907C>A	ENSP00000493677.1:n.*2907C>A
ENST00000647158.1:c.*1318C>A	ENSP00000495744.1:n.*1318C>A
ENST00000302539.8:c.3180C>A	ENSP00000303960.4:p.Asp1060Glu
ENST00000389817.7:c.3177C>A	ENSP00000374467.3:p.Asp1059Glu
ENST00000524561.1:n.309C>A
ENST00000526921.5:n.861C>A
ENST00000527905.5:c.*53C>A	ENSP00000431653.1:n.*53C>A
NM_000352.4:c.3177C>A	NP_000343.2:p.Asp1059Glu
NM_001287174.1:c.3180C>A	NP_001274103.1:p.Asp1060Glu
XM_011520331.1:c.3177C>A	XP_011518633.1:p.Asp1059Glu
XM_011520332.1:c.3180C>A	XP_011518634.1:p.Asp1060Glu
XM_011520333.1:c.1677C>A	XP_011518635.1:p.Asp559Glu
XR_930890.1:n.3243C>A
XR_930891.1:n.3243C>A
XR_930892.1:n.3143C>A
XR_930893.1:n.3140C>A
NM_001351295.1:c.3243C>A	NP_001338224.1:p.Asp1081Glu
NM_001351296.1:c.3177C>A	NP_001338225.1:p.Asp1059Glu
NM_001351297.1:c.3174C>A	NP_001338226.1:p.Asp1058Glu
NR_147094.1:n.3326C>A
XM_017018197.2:c.3246C>A	XP_016873686.1:p.Asp1082Glu
XM_017018199.1:c.3243C>A	XP_016873688.1:p.Asp1081Glu
XM_017018201.2:c.3246C>A	XP_016873690.1:p.Asp1082Glu
XM_017018202.1:c.1743C>A	XP_016873691.1:p.Asp581Glu
XM_017018204.1:c.1134C>A	XP_016873693.1:p.Asp378Glu
XM_024448668.1:c.1545C>A	XP_024304436.1:p.Asp515Glu
XR_001747945.2:n.3318C>A
XR_001747946.2:n.3249C>A
XR_002957189.1:n.3398C>A
NM_000352.6:c.3177C>A MANE Select	NP_000343.2:p.Asp1059Glu
NM_001287174.2:c.3180C>A	NP_001274103.1:p.Asp1060Glu
NM_001351295.2:c.3243C>A	NP_001338224.1:p.Asp1081Glu
NM_001351296.2:c.3177C>A	NP_001338225.1:p.Asp1059Glu
NM_001351297.2:c.3174C>A	NP_001338226.1:p.Asp1058Glu
NR_147094.2:n.3326C>A
NM_001287174.3:c.3180C>A	NP_001274103.1:p.Asp1060Glu