Canonical Allele Identifier: CA5902962

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407092C>T , CM000673.2:g.17407092C>T	GRCh38
NC_000011.9:g.17428639C>T , CM000673.1:g.17428639C>T	GRCh37
NC_000011.8:g.17385215C>T	NCBI36
NG_008867.1:g.74811G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2958G>A MANE Select	NP_000343.2:p.Ser986=
ENST00000389817.8:c.2958G>A MANE Select	ENSP00000374467.4:p.Ser986=
NM_000352.4:c.2958G>A	NP_000343.2:p.Ser986=
NM_001287174.1:c.2961G>A	NP_001274103.1:p.Ser987=
NM_001287174.2:c.2961G>A	NP_001274103.1:p.Ser987=
NM_001287174.3:c.2961G>A	NP_001274103.1:p.Ser987=
NM_001351295.1:c.3024G>A	NP_001338224.1:p.Ser1008=
NM_001351295.2:c.3024G>A	NP_001338224.1:p.Ser1008=
NM_001351296.1:c.2958G>A	NP_001338225.1:p.Ser986=
NM_001351296.2:c.2958G>A	NP_001338225.1:p.Ser986=
NM_001351297.1:c.2955G>A	NP_001338226.1:p.Ser985=
NM_001351297.2:c.2955G>A	NP_001338226.1:p.Ser985=
NR_147094.1:n.3107G>A
NR_147094.2:n.3107G>A
ENST00000302539.8:c.2961G>A	ENSP00000303960.4:p.Ser987=
ENST00000302539.9:c.2961G>A	ENSP00000303960.4:p.Ser987=
ENST00000389817.7:c.2958G>A	ENSP00000374467.3:p.Ser986=
ENST00000524561.1:n.90G>A
ENST00000524561.2:n.2527G>A
ENST00000526921.5:n.642G>A
ENST00000527905.5:c.2828G>A	ENSP00000431653.1:p.Arg943His
ENST00000529967.5:n.627G>A
ENST00000529967.6:n.1297G>A
ENST00000532220.2:n.690G>A
ENST00000642271.1:c.2955G>A	ENSP00000493749.1:p.Ser985=
ENST00000642579.1:c.1042G>A
ENST00000642611.1:n.2912G>A
ENST00000642611.2:n.3027G>A
ENST00000642902.1:c.2756-16G>A
ENST00000643260.1:c.2958G>A	ENSP00000494450.1:p.Ser986=
ENST00000643562.1:c.*934G>A	ENSP00000496124.1:n.*934G>A
ENST00000643925.1:c.1082G>A
ENST00000644447.1:c.1314G>A	ENSP00000496282.1:p.Ser438=
ENST00000644484.1:c.*1213G>A	ENSP00000493558.1:n.*1213G>A
ENST00000644542.1:c.*2663G>A	ENSP00000495532.1:n.*2663G>A
ENST00000644675.1:c.*1130G>A	ENSP00000494567.1:n.*1130G>A
ENST00000644757.1:c.*1243G>A	ENSP00000495085.1:n.*1243G>A
ENST00000644772.1:c.3024G>A	ENSP00000494321.1:p.Ser1008=
ENST00000645004.1:n.97G>A
ENST00000645004.2:n.457G>A
ENST00000645076.1:c.2173-16G>A
ENST00000645417.1:c.124G>A
ENST00000645744.1:c.*1222G>A	ENSP00000494564.1:n.*1222G>A
ENST00000645760.1:c.3233G>A
ENST00000645884.1:c.*95G>A	ENSP00000495516.1:n.*95G>A
ENST00000646003.1:c.*914G>A	ENSP00000495259.1:n.*914G>A
ENST00000646207.1:c.*1425G>A	ENSP00000495025.1:n.*1425G>A
ENST00000646276.1:c.*1231G>A	ENSP00000496070.1:n.*1231G>A
ENST00000646592.1:c.2264G>A
ENST00000646902.1:c.2955G>A	ENSP00000494101.1:p.Ser985=
ENST00000646993.1:c.*1354G>A	ENSP00000493720.1:n.*1354G>A
ENST00000647013.1:c.2964G>A	ENSP00000496741.1:n.2964G>A
ENST00000647015.1:c.2709G>A	ENSP00000495389.1:p.Ser903=
ENST00000647086.1:c.*2688G>A	ENSP00000493677.1:n.*2688G>A
ENST00000647158.1:c.*1099G>A	ENSP00000495744.1:n.*1099G>A
ENST00000682051.1:n.2974G>A
ENST00000682110.1:n.3027G>A
ENST00000682140.1:c.2955G>A	ENSP00000507829.1:p.Ser985=
ENST00000682185.1:n.4263G>A
ENST00000682204.1:c.*1096G>A	ENSP00000507094.1:n.*1096G>A
ENST00000682215.1:n.3024G>A
ENST00000682288.1:c.*1389G>A	ENSP00000507506.1:n.*1389G>A
ENST00000682442.1:n.3148G>A
ENST00000682528.1:n.3104G>A
ENST00000682673.1:n.2971G>A
ENST00000682805.1:n.3024G>A
ENST00000682965.1:c.2955G>A	ENSP00000508229.1:p.Ser985=
ENST00000683093.1:n.3126G>A
ENST00000683136.1:c.2955G>A	ENSP00000507768.1:p.Ser985=
ENST00000683153.1:n.3183G>A
ENST00000683365.1:n.3129G>A
ENST00000683377.1:n.3027G>A
ENST00000683456.1:c.*95G>A	ENSP00000508318.1:n.*95G>A
ENST00000683522.1:n.3027G>A
ENST00000683562.1:c.*1127G>A	ENSP00000508265.1:n.*1127G>A
ENST00000683693.1:n.3104G>A
ENST00000683725.1:c.2958G>A	ENSP00000507496.1:p.Ser986=
ENST00000684010.1:n.3022G>A
ENST00000684157.1:n.3027G>A
ENST00000684253.1:n.2930G>A
ENST00000684288.1:c.*1130G>A	ENSP00000507143.1:n.*1130G>A
ENST00000684313.1:n.2459G>A
ENST00000684332.1:n.3100G>A
ENST00000684371.1:n.3133G>A
ENST00000684404.1:n.3070G>A
ENST00000684442.1:n.3027G>A
ENST00000684555.1:c.*1170G>A	ENSP00000507705.1:n.*1170G>A
ENST00000684571.1:c.2799G>A	ENSP00000506935.1:p.Ser933=
ENST00000684593.1:c.*2663G>A	ENSP00000507005.1:n.*2663G>A
ENST00000684711.1:c.*1354G>A	ENSP00000506841.1:n.*1354G>A
XM_011520331.1:c.2958G>A	XP_011518633.1:p.Ser986=
XM_011520332.1:c.2961G>A	XP_011518634.1:p.Ser987=
XM_011520333.1:c.1458G>A	XP_011518635.1:p.Ser486=
XM_017018197.2:c.3027G>A	XP_016873686.1:p.Ser1009=
XM_017018199.1:c.3024G>A	XP_016873688.1:p.Ser1008=
XM_017018201.2:c.3027G>A	XP_016873690.1:p.Ser1009=
XM_017018202.1:c.1524G>A	XP_016873691.1:p.Ser508=
XM_017018204.1:c.915G>A	XP_016873693.1:p.Ser305=
XM_024448668.1:c.1326G>A	XP_024304436.1:p.Ser442=
XR_001747945.2:n.3099G>A
XR_001747946.2:n.3030G>A
XR_002957189.1:n.3179G>A
XR_930890.1:n.3024G>A
XR_930891.1:n.3024G>A
XR_930892.1:n.2924G>A
XR_930893.1:n.2921G>A