Canonical Allele Identifier: CA5902586

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396945C>T , CM000673.2:g.17396945C>T	GRCh38
NC_000011.9:g.17418492C>T , CM000673.1:g.17418492C>T	GRCh37
NC_000011.8:g.17375068C>T	NCBI36
NG_008867.1:g.84958G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4090G>A MANE Select	NP_000343.2:p.Val1364Ile
ENST00000389817.8:c.4090G>A MANE Select	ENSP00000374467.4:p.Val1364Ile
NM_000352.4:c.4090G>A	NP_000343.2:p.Val1364Ile
NM_001287174.1:c.4093G>A	NP_001274103.1:p.Val1365Ile
NM_001287174.2:c.4093G>A	NP_001274103.1:p.Val1365Ile
NM_001287174.3:c.4093G>A	NP_001274103.1:p.Val1365Ile
NM_001351295.1:c.4156G>A	NP_001338224.1:p.Val1386Ile
NM_001351295.2:c.4156G>A	NP_001338224.1:p.Val1386Ile
NM_001351296.1:c.4090G>A	NP_001338225.1:p.Val1364Ile
NM_001351296.2:c.4090G>A	NP_001338225.1:p.Val1364Ile
NM_001351297.1:c.4087G>A	NP_001338226.1:p.Val1363Ile
NM_001351297.2:c.4087G>A	NP_001338226.1:p.Val1363Ile
NR_147094.1:n.4385G>A
NR_147094.2:n.4385G>A
ENST00000302539.8:c.4093G>A	ENSP00000303960.4:p.Val1365Ile
ENST00000302539.9:c.4093G>A	ENSP00000303960.4:p.Val1365Ile
ENST00000389817.7:c.4090G>A	ENSP00000374467.3:p.Val1364Ile
ENST00000524561.2:n.3691G>A
ENST00000527905.5:c.*1112G>A	ENSP00000431653.1:n.*1112G>A
ENST00000528374.1:c.572G>A
ENST00000528374.2:c.681G>A
ENST00000529967.6:n.2429G>A
ENST00000531137.1:n.655G>A
ENST00000531891.1:c.428G>A
ENST00000532220.1:n.564G>A
ENST00000532220.2:n.2338G>A
ENST00000642271.1:c.4087G>A	ENSP00000493749.1:p.Val1363Ile
ENST00000642579.1:c.2144G>A
ENST00000642611.1:n.4190G>A
ENST00000642611.2:n.4305G>A
ENST00000642902.1:c.3872G>A
ENST00000643260.1:c.4090G>A	ENSP00000494450.1:p.Val1364Ile
ENST00000643562.1:c.*2212G>A	ENSP00000496124.1:n.*2212G>A
ENST00000643925.1:c.2730G>A
ENST00000644057.1:n.167G>A
ENST00000644057.2:n.533G>A
ENST00000644484.1:c.*2491G>A	ENSP00000493558.1:n.*2491G>A
ENST00000644675.1:c.*2262G>A	ENSP00000494567.1:n.*2262G>A
ENST00000644757.1:c.*2521G>A	ENSP00000495085.1:n.*2521G>A
ENST00000644772.1:c.4156G>A	ENSP00000494321.1:p.Val1386Ile
ENST00000645004.1:n.1745G>A
ENST00000645004.2:n.1589G>A
ENST00000645076.1:c.3289G>A
ENST00000645417.1:c.1278G>A
ENST00000645744.1:c.*2870G>A	ENSP00000494564.1:n.*2870G>A
ENST00000645760.1:c.4511G>A
ENST00000645884.1:c.*1373G>A	ENSP00000495516.1:n.*1373G>A
ENST00000646003.1:c.*2192G>A	ENSP00000495259.1:n.*2192G>A
ENST00000646207.1:c.*2927G>A	ENSP00000495025.1:n.*2927G>A
ENST00000646276.1:c.*2509G>A	ENSP00000496070.1:n.*2509G>A
ENST00000646592.1:c.3396G>A
ENST00000646902.1:c.4057G>A	ENSP00000494101.1:p.Val1353Ile
ENST00000646993.1:c.*2632G>A	ENSP00000493720.1:n.*2632G>A
ENST00000647013.1:c.4096G>A	ENSP00000496741.1:n.4096G>A
ENST00000647015.1:c.3841G>A	ENSP00000495389.1:p.Val1281Ile
ENST00000647086.1:c.*3676G>A	ENSP00000493677.1:n.*3676G>A
ENST00000647158.1:c.*2377G>A	ENSP00000495744.1:n.*2377G>A
ENST00000682051.1:n.4252G>A
ENST00000682110.1:n.4305G>A
ENST00000682140.1:c.3985+248G>A	ENSP00000507829.1:n.3985+248G>A
ENST00000682185.1:n.5395G>A
ENST00000682204.1:c.*2228G>A	ENSP00000507094.1:n.*2228G>A
ENST00000682215.1:n.4672G>A
ENST00000682288.1:c.*2521G>A	ENSP00000507506.1:n.*2521G>A
ENST00000682442.1:n.4525G>A
ENST00000682528.1:n.4382G>A
ENST00000682673.1:n.4249G>A
ENST00000682805.1:n.4672G>A
ENST00000682965.1:c.*512G>A	ENSP00000508229.1:n.*512G>A
ENST00000683093.1:n.4404G>A
ENST00000683136.1:c.3973G>A	ENSP00000507768.1:p.Val1325Ile
ENST00000683153.1:n.4347G>A
ENST00000683365.1:n.4407G>A
ENST00000683377.1:n.4305G>A
ENST00000683456.1:c.*1227G>A	ENSP00000508318.1:n.*1227G>A
ENST00000683522.1:n.4305G>A
ENST00000683562.1:c.*2259G>A	ENSP00000508265.1:n.*2259G>A
ENST00000683693.1:n.4752G>A
ENST00000683725.1:c.4090G>A	ENSP00000507496.1:p.Val1364Ile
ENST00000684010.1:n.4300G>A
ENST00000684157.1:n.4305G>A
ENST00000684253.1:n.4208G>A
ENST00000684288.1:c.*2262G>A	ENSP00000507143.1:n.*2262G>A
ENST00000684313.1:n.3737G>A
ENST00000684332.1:n.4378G>A
ENST00000684371.1:n.4411G>A
ENST00000684404.1:n.4348G>A
ENST00000684442.1:n.4529G>A
ENST00000684555.1:c.*2302G>A	ENSP00000507705.1:n.*2302G>A
ENST00000684571.1:c.3931G>A	ENSP00000506935.1:p.Val1311Ile
ENST00000684593.1:c.*3795G>A	ENSP00000507005.1:n.*3795G>A
ENST00000684711.1:c.*2486G>A	ENSP00000506841.1:n.*2486G>A
XM_011520331.1:c.4090G>A	XP_011518633.1:p.Val1364Ile
XM_011520332.1:c.4093G>A	XP_011518634.1:p.Val1365Ile
XM_011520333.1:c.2590G>A	XP_011518635.1:p.Val864Ile
XM_017018197.2:c.4159G>A	XP_016873686.1:p.Val1387Ile
XM_017018199.1:c.4156G>A	XP_016873688.1:p.Val1386Ile
XM_017018201.2:c.4159G>A	XP_016873690.1:p.Val1387Ile
XM_017018202.1:c.2656G>A	XP_016873691.1:p.Val886Ile
XM_017018204.1:c.2047G>A	XP_016873693.1:p.Val683Ile
XM_024448668.1:c.2458G>A	XP_024304436.1:p.Val820Ile
XR_001747945.2:n.4231G>A
XR_001747946.2:n.4162G>A
XR_002957189.1:n.4827G>A
XR_930890.1:n.4156G>A