Canonical Allele Identifier: CA16041433

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394333C>T , CM000673.2:g.17394333C>T	GRCh38
NC_000011.9:g.17415880C>T , CM000673.1:g.17415880C>T	GRCh37
NC_000011.8:g.17372456C>T	NCBI36
NG_008867.1:g.87570G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4478G>A MANE Select	NP_000343.2:p.Arg1493Gln
ENST00000389817.8:c.4478G>A MANE Select	ENSP00000374467.4:p.Arg1493Gln
NM_000352.4:c.4478G>A	NP_000343.2:p.Arg1493Gln
NM_001287174.1:c.4481G>A	NP_001274103.1:p.Arg1494Gln
NM_001287174.2:c.4481G>A	NP_001274103.1:p.Arg1494Gln
NM_001287174.3:c.4481G>A	NP_001274103.1:p.Arg1494Gln
NM_001351295.1:c.4544G>A	NP_001338224.1:p.Arg1515Gln
NM_001351295.2:c.4544G>A	NP_001338224.1:p.Arg1515Gln
NM_001351296.1:c.4478G>A	NP_001338225.1:p.Arg1493Gln
NM_001351296.2:c.4478G>A	NP_001338225.1:p.Arg1493Gln
NM_001351297.1:c.4475G>A	NP_001338226.1:p.Arg1492Gln
NM_001351297.2:c.4475G>A	NP_001338226.1:p.Arg1492Gln
NR_147094.1:n.4773G>A
NR_147094.2:n.4773G>A
ENST00000302539.8:c.4481G>A	ENSP00000303960.4:p.Arg1494Gln
ENST00000302539.9:c.4481G>A	ENSP00000303960.4:p.Arg1494Gln
ENST00000389817.7:c.4478G>A	ENSP00000374467.3:p.Arg1493Gln
ENST00000524561.2:n.4079G>A
ENST00000525022.1:n.373G>A
ENST00000526037.5:n.238G>A
ENST00000526037.6:n.413G>A
ENST00000526168.5:c.266G>A
ENST00000528374.2:c.1069G>A
ENST00000529967.6:n.2817G>A
ENST00000531642.5:c.509G>A
ENST00000532220.2:n.3711G>A
ENST00000642271.1:c.4475G>A	ENSP00000493749.1:p.Arg1492Gln
ENST00000642579.1:c.2532G>A
ENST00000642611.1:n.5696G>A
ENST00000642611.2:n.5811G>A
ENST00000642902.1:c.4260G>A
ENST00000643260.1:c.4478G>A	ENSP00000494450.1:p.Arg1493Gln
ENST00000643562.1:c.*2600G>A	ENSP00000496124.1:n.*2600G>A
ENST00000643925.1:c.3118G>A
ENST00000644057.1:n.637G>A
ENST00000644057.2:n.1054G>A
ENST00000644484.1:c.*3864G>A	ENSP00000493558.1:n.*3864G>A
ENST00000644675.1:c.*2650G>A	ENSP00000494567.1:n.*2650G>A
ENST00000644757.1:c.*3203-1353G>A	ENSP00000495085.1:n.*3203-1353G>A
ENST00000644772.1:c.4544G>A	ENSP00000494321.1:p.Arg1515Gln
ENST00000645004.1:n.2171G>A
ENST00000645004.2:n.1977G>A
ENST00000645076.1:c.3573G>A
ENST00000645417.1:c.1666G>A
ENST00000645744.1:c.*4163G>A	ENSP00000494564.1:n.*4163G>A
ENST00000645760.1:c.4899G>A
ENST00000645884.1:c.*1761G>A	ENSP00000495516.1:n.*1761G>A
ENST00000646003.1:c.*2500G>A	ENSP00000495259.1:n.*2500G>A
ENST00000646207.1:c.*3315G>A	ENSP00000495025.1:n.*3315G>A
ENST00000646276.1:c.*3882G>A	ENSP00000496070.1:n.*3882G>A
ENST00000646592.1:c.3784G>A
ENST00000646902.1:c.4445G>A	ENSP00000494101.1:p.Arg1482Gln
ENST00000646993.1:c.*2916G>A	ENSP00000493720.1:n.*2916G>A
ENST00000647013.1:c.4484G>A	ENSP00000496741.1:n.4484G>A
ENST00000647015.1:c.4229G>A	ENSP00000495389.1:p.Arg1410Gln
ENST00000647086.1:c.*4064G>A	ENSP00000493677.1:n.*4064G>A
ENST00000647158.1:c.*2765G>A	ENSP00000495744.1:n.*2765G>A
ENST00000682051.1:n.4640G>A
ENST00000682110.1:n.4693G>A
ENST00000682140.1:c.*264G>A	ENSP00000507829.1:n.*264G>A
ENST00000682185.1:n.5783G>A
ENST00000682204.1:c.*2616G>A	ENSP00000507094.1:n.*2616G>A
ENST00000682215.1:n.5060G>A
ENST00000682288.1:c.*2909G>A	ENSP00000507506.1:n.*2909G>A
ENST00000682442.1:n.4913G>A
ENST00000682528.1:n.4770G>A
ENST00000682673.1:n.4637G>A
ENST00000682805.1:n.5098G>A
ENST00000682965.1:c.*900G>A	ENSP00000508229.1:n.*900G>A
ENST00000683093.1:n.5673G>A
ENST00000683136.1:c.4361G>A	ENSP00000507768.1:p.Arg1454Gln
ENST00000683153.1:n.4735G>A
ENST00000683365.1:n.4795G>A
ENST00000683377.1:n.4589G>A
ENST00000683456.1:c.*1615G>A	ENSP00000508318.1:n.*1615G>A
ENST00000683522.1:n.4775G>A
ENST00000683562.1:c.*2543G>A	ENSP00000508265.1:n.*2543G>A
ENST00000683693.1:n.6154G>A
ENST00000683725.1:c.4374G>A	ENSP00000507496.1:p.Pro1458=
ENST00000684010.1:n.4688G>A
ENST00000684014.1:n.665G>A
ENST00000684157.1:n.5678G>A
ENST00000684253.1:n.4596G>A
ENST00000684288.1:c.*2650G>A	ENSP00000507143.1:n.*2650G>A
ENST00000684313.1:n.4125G>A
ENST00000684332.1:n.4766G>A
ENST00000684371.1:n.4799G>A
ENST00000684404.1:n.5721G>A
ENST00000684442.1:n.4917G>A
ENST00000684555.1:c.*2690G>A	ENSP00000507705.1:n.*2690G>A
ENST00000684571.1:c.4319G>A	ENSP00000506935.1:p.Arg1440Gln
ENST00000684593.1:c.*4183G>A	ENSP00000507005.1:n.*4183G>A
ENST00000684711.1:c.*2874G>A	ENSP00000506841.1:n.*2874G>A
XM_011520331.1:c.4478G>A	XP_011518633.1:p.Arg1493Gln
XM_011520332.1:c.4377G>A	XP_011518634.1:p.Pro1459=
XM_011520333.1:c.2978G>A	XP_011518635.1:p.Arg993Gln
XM_017018197.2:c.4547G>A	XP_016873686.1:p.Arg1516Gln
XM_017018199.1:c.4544G>A	XP_016873688.1:p.Arg1515Gln
XM_017018201.2:c.4443G>A	XP_016873690.1:p.Pro1481=
XM_017018202.1:c.3044G>A	XP_016873691.1:p.Arg1015Gln
XM_017018204.1:c.2435G>A	XP_016873693.1:p.Arg812Gln
XM_024448668.1:c.2846G>A	XP_024304436.1:p.Arg949Gln
XR_001747945.2:n.4515G>A
XR_001747946.2:n.4446G>A
XR_002957189.1:n.6229G>A
XR_930890.1:n.4440G>A