Canonical Allele Identifier: CA379790565

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418517G>T (hg19) ; chr11:g.17396970G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396970G>T , CM000673.2:g.17396970G>T	GRCh38
NC_000011.9:g.17418517G>T , CM000673.1:g.17418517G>T	GRCh37
NC_000011.8:g.17375093G>T	NCBI36
NG_008867.1:g.84933C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3666C>A
ENST00000528374.2:c.656C>A
ENST00000529967.6:n.2404C>A
ENST00000532220.2:n.2313C>A
ENST00000642611.2:n.4280C>A
ENST00000644057.2:n.508C>A
ENST00000645004.2:n.1564C>A
ENST00000682051.1:n.4227C>A
ENST00000682110.1:n.4280C>A
ENST00000682140.1:c.3985+223C>A	ENSP00000507829.1:n.3985+223C>A
ENST00000682185.1:n.5370C>A
ENST00000682204.1:c.*2203C>A	ENSP00000507094.1:n.*2203C>A
ENST00000682215.1:n.4647C>A
ENST00000682288.1:c.*2496C>A	ENSP00000507506.1:n.*2496C>A
ENST00000682442.1:n.4500C>A
ENST00000682528.1:n.4357C>A
ENST00000682673.1:n.4224C>A
ENST00000682805.1:n.4647C>A
ENST00000682965.1:c.*487C>A	ENSP00000508229.1:n.*487C>A
ENST00000683093.1:n.4379C>A
ENST00000683136.1:c.3948C>A	ENSP00000507768.1:p.Ser1316Arg
ENST00000683153.1:n.4322C>A
ENST00000683365.1:n.4382C>A
ENST00000683377.1:n.4280C>A
ENST00000683456.1:c.*1202C>A	ENSP00000508318.1:n.*1202C>A
ENST00000683522.1:n.4280C>A
ENST00000683562.1:c.*2234C>A	ENSP00000508265.1:n.*2234C>A
ENST00000683693.1:n.4727C>A
ENST00000683725.1:c.4065C>A	ENSP00000507496.1:p.Ser1355Arg
ENST00000684010.1:n.4275C>A
ENST00000684157.1:n.4280C>A
ENST00000684253.1:n.4183C>A
ENST00000684288.1:c.*2237C>A	ENSP00000507143.1:n.*2237C>A
ENST00000684313.1:n.3712C>A
ENST00000684332.1:n.4353C>A
ENST00000684371.1:n.4386C>A
ENST00000684404.1:n.4323C>A
ENST00000684442.1:n.4504C>A
ENST00000684555.1:c.*2277C>A	ENSP00000507705.1:n.*2277C>A
ENST00000684571.1:c.3906C>A	ENSP00000506935.1:p.Ser1302Arg
ENST00000684593.1:c.*3770C>A	ENSP00000507005.1:n.*3770C>A
ENST00000684711.1:c.*2461C>A	ENSP00000506841.1:n.*2461C>A
ENST00000302539.9:c.4068C>A	ENSP00000303960.4:p.Ser1356Arg
ENST00000389817.8:c.4065C>A MANE Select	ENSP00000374467.4:p.Ser1355Arg
ENST00000642271.1:c.4062C>A	ENSP00000493749.1:p.Ser1354Arg
ENST00000642579.1:c.2119C>A
ENST00000642611.1:n.4165C>A
ENST00000642902.1:c.3847C>A
ENST00000643260.1:c.4065C>A	ENSP00000494450.1:p.Ser1355Arg
ENST00000643562.1:c.*2187C>A	ENSP00000496124.1:n.*2187C>A
ENST00000643925.1:c.2705C>A
ENST00000644057.1:n.142C>A
ENST00000644484.1:c.*2466C>A	ENSP00000493558.1:n.*2466C>A
ENST00000644675.1:c.*2237C>A	ENSP00000494567.1:n.*2237C>A
ENST00000644757.1:c.*2496C>A	ENSP00000495085.1:n.*2496C>A
ENST00000644772.1:c.4131C>A	ENSP00000494321.1:p.Ser1377Arg
ENST00000645004.1:n.1720C>A
ENST00000645076.1:c.3264C>A
ENST00000645417.1:c.1253C>A
ENST00000645744.1:c.*2845C>A	ENSP00000494564.1:n.*2845C>A
ENST00000645760.1:c.4486C>A
ENST00000645884.1:c.*1348C>A	ENSP00000495516.1:n.*1348C>A
ENST00000646003.1:c.*2167C>A	ENSP00000495259.1:n.*2167C>A
ENST00000646207.1:c.*2902C>A	ENSP00000495025.1:n.*2902C>A
ENST00000646276.1:c.*2484C>A	ENSP00000496070.1:n.*2484C>A
ENST00000646592.1:c.3371C>A
ENST00000646902.1:c.4032C>A	ENSP00000494101.1:p.Ser1344Arg
ENST00000646993.1:c.*2607C>A	ENSP00000493720.1:n.*2607C>A
ENST00000647013.1:c.4071C>A	ENSP00000496741.1:n.4071C>A
ENST00000647015.1:c.3816C>A	ENSP00000495389.1:p.Ser1272Arg
ENST00000647086.1:c.*3651C>A	ENSP00000493677.1:n.*3651C>A
ENST00000647158.1:c.*2352C>A	ENSP00000495744.1:n.*2352C>A
ENST00000302539.8:c.4068C>A	ENSP00000303960.4:p.Ser1356Arg
ENST00000389817.7:c.4065C>A	ENSP00000374467.3:p.Ser1355Arg
ENST00000527905.5:c.*1087C>A	ENSP00000431653.1:n.*1087C>A
ENST00000528374.1:c.547C>A
ENST00000531137.1:n.630C>A
ENST00000531891.1:c.403C>A
ENST00000532220.1:n.539C>A
NM_000352.4:c.4065C>A	NP_000343.2:p.Ser1355Arg
NM_001287174.1:c.4068C>A	NP_001274103.1:p.Ser1356Arg
XM_011520331.1:c.4065C>A	XP_011518633.1:p.Ser1355Arg
XM_011520332.1:c.4068C>A	XP_011518634.1:p.Ser1356Arg
XM_011520333.1:c.2565C>A	XP_011518635.1:p.Ser855Arg
XR_930890.1:n.4131C>A
NM_001351295.1:c.4131C>A	NP_001338224.1:p.Ser1377Arg
NM_001351296.1:c.4065C>A	NP_001338225.1:p.Ser1355Arg
NM_001351297.1:c.4062C>A	NP_001338226.1:p.Ser1354Arg
NR_147094.1:n.4360C>A
XM_017018197.2:c.4134C>A	XP_016873686.1:p.Ser1378Arg
XM_017018199.1:c.4131C>A	XP_016873688.1:p.Ser1377Arg
XM_017018201.2:c.4134C>A	XP_016873690.1:p.Ser1378Arg
XM_017018202.1:c.2631C>A	XP_016873691.1:p.Ser877Arg
XM_017018204.1:c.2022C>A	XP_016873693.1:p.Ser674Arg
XM_024448668.1:c.2433C>A	XP_024304436.1:p.Ser811Arg
XR_001747945.2:n.4206C>A
XR_001747946.2:n.4137C>A
XR_002957189.1:n.4802C>A
NM_000352.6:c.4065C>A MANE Select	NP_000343.2:p.Ser1355Arg
NM_001287174.2:c.4068C>A	NP_001274103.1:p.Ser1356Arg
NM_001351295.2:c.4131C>A	NP_001338224.1:p.Ser1377Arg
NM_001351296.2:c.4065C>A	NP_001338225.1:p.Ser1355Arg
NM_001351297.2:c.4062C>A	NP_001338226.1:p.Ser1354Arg
NR_147094.2:n.4360C>A
NM_001287174.3:c.4068C>A	NP_001274103.1:p.Ser1356Arg