Canonical Allele Identifier: CA473298088

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415879C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394332C>A , CM000673.2:g.17394332C>A	GRCh38
NC_000011.9:g.17415879C>A , CM000673.1:g.17415879C>A	GRCh37
NC_000011.8:g.17372455C>A	NCBI36
NG_008867.1:g.87571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4080G>T
ENST00000526037.6:n.414G>T
ENST00000528374.2:c.1070G>T
ENST00000529967.6:n.2818G>T
ENST00000532220.2:n.3712G>T
ENST00000642611.2:n.5812G>T
ENST00000644057.2:n.1055G>T
ENST00000645004.2:n.1978G>T
ENST00000682051.1:n.4641G>T
ENST00000682110.1:n.4694G>T
ENST00000682140.1:c.*265G>T	ENSP00000507829.1:n.*265G>T
ENST00000682185.1:n.5784G>T
ENST00000682204.1:c.*2617G>T	ENSP00000507094.1:n.*2617G>T
ENST00000682215.1:n.5061G>T
ENST00000682288.1:c.*2910G>T	ENSP00000507506.1:n.*2910G>T
ENST00000682442.1:n.4914G>T
ENST00000682528.1:n.4771G>T
ENST00000682673.1:n.4638G>T
ENST00000682805.1:n.5099G>T
ENST00000682965.1:c.*901G>T	ENSP00000508229.1:n.*901G>T
ENST00000683093.1:n.5674G>T
ENST00000683136.1:c.4362G>T	ENSP00000507768.1:p.Arg1454=
ENST00000683153.1:n.4736G>T
ENST00000683365.1:n.4796G>T
ENST00000683377.1:n.4590G>T
ENST00000683456.1:c.*1616G>T	ENSP00000508318.1:n.*1616G>T
ENST00000683522.1:n.4776G>T
ENST00000683562.1:c.*2544G>T	ENSP00000508265.1:n.*2544G>T
ENST00000683693.1:n.6155G>T
ENST00000683725.1:c.4375G>T	ENSP00000507496.1:p.Gly1459Cys
ENST00000684010.1:n.4689G>T
ENST00000684014.1:n.666G>T
ENST00000684157.1:n.5679G>T
ENST00000684253.1:n.4597G>T
ENST00000684288.1:c.*2651G>T	ENSP00000507143.1:n.*2651G>T
ENST00000684313.1:n.4126G>T
ENST00000684332.1:n.4767G>T
ENST00000684371.1:n.4800G>T
ENST00000684404.1:n.5722G>T
ENST00000684442.1:n.4918G>T
ENST00000684555.1:c.*2691G>T	ENSP00000507705.1:n.*2691G>T
ENST00000684571.1:c.4320G>T	ENSP00000506935.1:p.Arg1440=
ENST00000684593.1:c.*4184G>T	ENSP00000507005.1:n.*4184G>T
ENST00000684711.1:c.*2875G>T	ENSP00000506841.1:n.*2875G>T
ENST00000302539.9:c.4482G>T	ENSP00000303960.4:p.Arg1494=
ENST00000389817.8:c.4479G>T MANE Select	ENSP00000374467.4:p.Arg1493=
ENST00000642271.1:c.4476G>T	ENSP00000493749.1:p.Arg1492=
ENST00000642579.1:c.2533G>T
ENST00000642611.1:n.5697G>T
ENST00000642902.1:c.4261G>T
ENST00000643260.1:c.4479G>T	ENSP00000494450.1:p.Arg1493=
ENST00000643562.1:c.*2601G>T	ENSP00000496124.1:n.*2601G>T
ENST00000643925.1:c.3119G>T
ENST00000644057.1:n.638G>T
ENST00000644484.1:c.*3865G>T	ENSP00000493558.1:n.*3865G>T
ENST00000644675.1:c.*2651G>T	ENSP00000494567.1:n.*2651G>T
ENST00000644757.1:c.*3203-1352G>T	ENSP00000495085.1:n.*3203-1352G>T
ENST00000644772.1:c.4545G>T	ENSP00000494321.1:p.Arg1515=
ENST00000645004.1:n.2172G>T
ENST00000645076.1:c.3574G>T
ENST00000645417.1:c.1667G>T
ENST00000645744.1:c.*4164G>T	ENSP00000494564.1:n.*4164G>T
ENST00000645760.1:c.4900G>T
ENST00000645884.1:c.*1762G>T	ENSP00000495516.1:n.*1762G>T
ENST00000646003.1:c.*2501G>T	ENSP00000495259.1:n.*2501G>T
ENST00000646207.1:c.*3316G>T	ENSP00000495025.1:n.*3316G>T
ENST00000646276.1:c.*3883G>T	ENSP00000496070.1:n.*3883G>T
ENST00000646592.1:c.3785G>T
ENST00000646902.1:c.4446G>T	ENSP00000494101.1:p.Arg1482=
ENST00000646993.1:c.*2917G>T	ENSP00000493720.1:n.*2917G>T
ENST00000647013.1:c.4485G>T	ENSP00000496741.1:n.4485G>T
ENST00000647015.1:c.4230G>T	ENSP00000495389.1:p.Arg1410=
ENST00000647086.1:c.*4065G>T	ENSP00000493677.1:n.*4065G>T
ENST00000647158.1:c.*2766G>T	ENSP00000495744.1:n.*2766G>T
ENST00000302539.8:c.4482G>T	ENSP00000303960.4:p.Arg1494=
ENST00000389817.7:c.4479G>T	ENSP00000374467.3:p.Arg1493=
ENST00000525022.1:n.374G>T
ENST00000526037.5:n.239G>T
ENST00000526168.5:c.267G>T
ENST00000531642.5:c.510G>T
NM_000352.4:c.4479G>T	NP_000343.2:p.Arg1493=
NM_001287174.1:c.4482G>T	NP_001274103.1:p.Arg1494=
XM_011520331.1:c.4479G>T	XP_011518633.1:p.Arg1493=
XM_011520332.1:c.4378G>T	XP_011518634.1:p.Gly1460Cys
XM_011520333.1:c.2979G>T	XP_011518635.1:p.Arg993=
XR_930890.1:n.4441G>T
NM_001351295.1:c.4545G>T	NP_001338224.1:p.Arg1515=
NM_001351296.1:c.4479G>T	NP_001338225.1:p.Arg1493=
NM_001351297.1:c.4476G>T	NP_001338226.1:p.Arg1492=
NR_147094.1:n.4774G>T
XM_017018197.2:c.4548G>T	XP_016873686.1:p.Arg1516=
XM_017018199.1:c.4545G>T	XP_016873688.1:p.Arg1515=
XM_017018201.2:c.4444G>T	XP_016873690.1:p.Gly1482Cys
XM_017018202.1:c.3045G>T	XP_016873691.1:p.Arg1015=
XM_017018204.1:c.2436G>T	XP_016873693.1:p.Arg812=
XM_024448668.1:c.2847G>T	XP_024304436.1:p.Arg949=
XR_001747945.2:n.4516G>T
XR_001747946.2:n.4447G>T
XR_002957189.1:n.6230G>T
NM_000352.6:c.4479G>T MANE Select	NP_000343.2:p.Arg1493=
NM_001287174.2:c.4482G>T	NP_001274103.1:p.Arg1494=
NM_001351295.2:c.4545G>T	NP_001338224.1:p.Arg1515=
NM_001351296.2:c.4479G>T	NP_001338225.1:p.Arg1493=
NM_001351297.2:c.4476G>T	NP_001338226.1:p.Arg1492=
NR_147094.2:n.4774G>T
NM_001287174.3:c.4482G>T	NP_001274103.1:p.Arg1494=