Canonical Allele Identifier: CA5902885

Gene: ABCC8

Linked Data

• dbSNP Id: rs760793070
• ExAC: 11:17428294 C / T
• gnomAD v2: 11-17428294-C-T
• gnomAD v4: 11-17406747-C-T
• MyVariant Identifiers: chr11:g.17428294C>T (hg19) ; chr11:g.17406747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406747C>T , CM000673.2:g.17406747C>T	GRCh38
NC_000011.9:g.17428294C>T , CM000673.1:g.17428294C>T	GRCh37
NC_000011.8:g.17384870C>T	NCBI36
NG_008867.1:g.75156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2773G>A
ENST00000529967.6:n.1543G>A
ENST00000532220.2:n.936G>A
ENST00000642611.2:n.3273G>A
ENST00000645004.2:n.703G>A
ENST00000682051.1:n.3220G>A
ENST00000682110.1:n.3273G>A
ENST00000682140.1:c.3201G>A	ENSP00000507829.1:p.Thr1067=
ENST00000682185.1:n.4509G>A
ENST00000682204.1:c.*1342G>A	ENSP00000507094.1:n.*1342G>A
ENST00000682215.1:n.3270G>A
ENST00000682288.1:c.*1635G>A	ENSP00000507506.1:n.*1635G>A
ENST00000682442.1:n.3493G>A
ENST00000682528.1:n.3350G>A
ENST00000682673.1:n.3217G>A
ENST00000682805.1:n.3270G>A
ENST00000682965.1:c.3201G>A	ENSP00000508229.1:p.Thr1067=
ENST00000683093.1:n.3372G>A
ENST00000683136.1:c.3201G>A	ENSP00000507768.1:p.Thr1067=
ENST00000683153.1:n.3429G>A
ENST00000683365.1:n.3375G>A
ENST00000683377.1:n.3273G>A
ENST00000683456.1:c.*341G>A	ENSP00000508318.1:n.*341G>A
ENST00000683522.1:n.3273G>A
ENST00000683562.1:c.*1373G>A	ENSP00000508265.1:n.*1373G>A
ENST00000683693.1:n.3350G>A
ENST00000683725.1:c.3204G>A	ENSP00000507496.1:p.Thr1068=
ENST00000684010.1:n.3268G>A
ENST00000684157.1:n.3273G>A
ENST00000684253.1:n.3176G>A
ENST00000684288.1:c.*1376G>A	ENSP00000507143.1:n.*1376G>A
ENST00000684313.1:n.2705G>A
ENST00000684332.1:n.3346G>A
ENST00000684371.1:n.3379G>A
ENST00000684404.1:n.3316G>A
ENST00000684442.1:n.3273G>A
ENST00000684555.1:c.*1416G>A	ENSP00000507705.1:n.*1416G>A
ENST00000684571.1:c.3045G>A	ENSP00000506935.1:p.Thr1015=
ENST00000684593.1:c.*2909G>A	ENSP00000507005.1:n.*2909G>A
ENST00000684711.1:c.*1600G>A	ENSP00000506841.1:n.*1600G>A
ENST00000302539.9:c.3207G>A	ENSP00000303960.4:p.Thr1069=
ENST00000389817.8:c.3204G>A MANE Select	ENSP00000374467.4:p.Thr1068=
ENST00000642271.1:c.3201G>A	ENSP00000493749.1:p.Thr1067=
ENST00000642579.1:c.1288G>A
ENST00000642611.1:n.3158G>A
ENST00000642902.1:c.2986G>A
ENST00000643260.1:c.3204G>A	ENSP00000494450.1:p.Thr1068=
ENST00000643562.1:c.*1180G>A	ENSP00000496124.1:n.*1180G>A
ENST00000643925.1:c.1328G>A
ENST00000644447.1:c.1560G>A	ENSP00000496282.1:p.Thr520=
ENST00000644484.1:c.*1459G>A	ENSP00000493558.1:n.*1459G>A
ENST00000644542.1:c.*3008G>A	ENSP00000495532.1:n.*3008G>A
ENST00000644675.1:c.*1376G>A	ENSP00000494567.1:n.*1376G>A
ENST00000644757.1:c.*1489G>A	ENSP00000495085.1:n.*1489G>A
ENST00000644772.1:c.3270G>A	ENSP00000494321.1:p.Thr1090=
ENST00000645004.1:n.343G>A
ENST00000645076.1:c.2403G>A
ENST00000645417.1:c.370G>A
ENST00000645744.1:c.*1468G>A	ENSP00000494564.1:n.*1468G>A
ENST00000645760.1:c.3479G>A
ENST00000645884.1:c.*341G>A	ENSP00000495516.1:n.*341G>A
ENST00000646003.1:c.*1160G>A	ENSP00000495259.1:n.*1160G>A
ENST00000646207.1:c.*1671G>A	ENSP00000495025.1:n.*1671G>A
ENST00000646276.1:c.*1477G>A	ENSP00000496070.1:n.*1477G>A
ENST00000646592.1:c.2510G>A
ENST00000646902.1:c.3201G>A	ENSP00000494101.1:p.Thr1067=
ENST00000646993.1:c.*1600G>A	ENSP00000493720.1:n.*1600G>A
ENST00000647013.1:c.3210G>A	ENSP00000496741.1:n.3210G>A
ENST00000647015.1:c.2955G>A	ENSP00000495389.1:p.Thr985=
ENST00000647086.1:c.*2934G>A	ENSP00000493677.1:n.*2934G>A
ENST00000647158.1:c.*1345G>A	ENSP00000495744.1:n.*1345G>A
ENST00000302539.8:c.3207G>A	ENSP00000303960.4:p.Thr1069=
ENST00000389817.7:c.3204G>A	ENSP00000374467.3:p.Thr1068=
ENST00000524561.1:n.336G>A
ENST00000526921.5:n.888G>A
ENST00000527905.5:c.*80G>A	ENSP00000431653.1:n.*80G>A
NM_000352.4:c.3204G>A	NP_000343.2:p.Thr1068=
NM_001287174.1:c.3207G>A	NP_001274103.1:p.Thr1069=
XM_011520331.1:c.3204G>A	XP_011518633.1:p.Thr1068=
XM_011520332.1:c.3207G>A	XP_011518634.1:p.Thr1069=
XM_011520333.1:c.1704G>A	XP_011518635.1:p.Thr568=
XR_930890.1:n.3270G>A
XR_930891.1:n.3270G>A
XR_930892.1:n.3170G>A
XR_930893.1:n.3167G>A
NM_001351295.1:c.3270G>A	NP_001338224.1:p.Thr1090=
NM_001351296.1:c.3204G>A	NP_001338225.1:p.Thr1068=
NM_001351297.1:c.3201G>A	NP_001338226.1:p.Thr1067=
NR_147094.1:n.3353G>A
XM_017018197.2:c.3273G>A	XP_016873686.1:p.Thr1091=
XM_017018199.1:c.3270G>A	XP_016873688.1:p.Thr1090=
XM_017018201.2:c.3273G>A	XP_016873690.1:p.Thr1091=
XM_017018202.1:c.1770G>A	XP_016873691.1:p.Thr590=
XM_017018204.1:c.1161G>A	XP_016873693.1:p.Thr387=
XM_024448668.1:c.1572G>A	XP_024304436.1:p.Thr524=
XR_001747945.2:n.3345G>A
XR_001747946.2:n.3276G>A
XR_002957189.1:n.3425G>A
NM_000352.6:c.3204G>A MANE Select	NP_000343.2:p.Thr1068=
NM_001287174.2:c.3207G>A	NP_001274103.1:p.Thr1069=
NM_001351295.2:c.3270G>A	NP_001338224.1:p.Thr1090=
NM_001351296.2:c.3204G>A	NP_001338225.1:p.Thr1068=
NM_001351297.2:c.3201G>A	NP_001338226.1:p.Thr1067=
NR_147094.2:n.3353G>A
NM_001287174.3:c.3207G>A	NP_001274103.1:p.Thr1069=