Canonical Allele Identifier: CA208872

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17405548C>T , CM000673.2:g.17405548C>T	GRCh38
NC_000011.9:g.17427095C>T , CM000673.1:g.17427095C>T	GRCh37
NC_000011.8:g.17383671C>T	NCBI36
NG_008867.1:g.76355G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3345G>A MANE Select	NP_000343.2:p.Thr1115=
ENST00000389817.8:c.3345G>A MANE Select	ENSP00000374467.4:p.Thr1115=
NM_000352.4:c.3345G>A	NP_000343.2:p.Thr1115=
NM_001287174.1:c.3348G>A	NP_001274103.1:p.Thr1116=
NM_001287174.2:c.3348G>A	NP_001274103.1:p.Thr1116=
NM_001287174.3:c.3348G>A	NP_001274103.1:p.Thr1116=
NM_001351295.1:c.3411G>A	NP_001338224.1:p.Thr1137=
NM_001351295.2:c.3411G>A	NP_001338224.1:p.Thr1137=
NM_001351296.1:c.3345G>A	NP_001338225.1:p.Thr1115=
NM_001351296.2:c.3345G>A	NP_001338225.1:p.Thr1115=
NM_001351297.1:c.3342G>A	NP_001338226.1:p.Thr1114=
NM_001351297.2:c.3342G>A	NP_001338226.1:p.Thr1114=
NR_147094.1:n.3494G>A
NR_147094.2:n.3494G>A
ENST00000302539.8:c.3348G>A	ENSP00000303960.4:p.Thr1116=
ENST00000302539.9:c.3348G>A	ENSP00000303960.4:p.Thr1116=
ENST00000389817.7:c.3345G>A	ENSP00000374467.3:p.Thr1115=
ENST00000524561.1:n.477G>A
ENST00000524561.2:n.2914G>A
ENST00000527905.5:c.*221G>A	ENSP00000431653.1:n.*221G>A
ENST00000529967.6:n.1684G>A
ENST00000532220.2:n.1077G>A
ENST00000642271.1:c.3342G>A	ENSP00000493749.1:p.Thr1114=
ENST00000642579.1:c.1429G>A
ENST00000642611.1:n.3299G>A
ENST00000642611.2:n.3414G>A
ENST00000642902.1:c.3127G>A
ENST00000643260.1:c.3345G>A	ENSP00000494450.1:p.Thr1115=
ENST00000643562.1:c.*1321G>A	ENSP00000496124.1:n.*1321G>A
ENST00000643925.1:c.1469G>A
ENST00000644447.1:c.1701G>A	ENSP00000496282.1:p.Thr567=
ENST00000644484.1:c.*1600G>A	ENSP00000493558.1:n.*1600G>A
ENST00000644675.1:c.*1517G>A	ENSP00000494567.1:n.*1517G>A
ENST00000644757.1:c.*1630G>A	ENSP00000495085.1:n.*1630G>A
ENST00000644772.1:c.3411G>A	ENSP00000494321.1:p.Thr1137=
ENST00000645004.1:n.484G>A
ENST00000645004.2:n.844G>A
ENST00000645076.1:c.2544G>A
ENST00000645417.1:c.511G>A
ENST00000645744.1:c.*1609G>A	ENSP00000494564.1:n.*1609G>A
ENST00000645760.1:c.3620G>A
ENST00000645884.1:c.*482G>A	ENSP00000495516.1:n.*482G>A
ENST00000646003.1:c.*1301G>A	ENSP00000495259.1:n.*1301G>A
ENST00000646207.1:c.*1812G>A	ENSP00000495025.1:n.*1812G>A
ENST00000646276.1:c.*1618G>A	ENSP00000496070.1:n.*1618G>A
ENST00000646592.1:c.2651G>A
ENST00000646902.1:c.3342G>A	ENSP00000494101.1:p.Thr1114=
ENST00000646993.1:c.*1741G>A	ENSP00000493720.1:n.*1741G>A
ENST00000647013.1:c.3351G>A	ENSP00000496741.1:n.3351G>A
ENST00000647015.1:c.3096G>A	ENSP00000495389.1:p.Thr1032=
ENST00000647086.1:c.*3075G>A	ENSP00000493677.1:n.*3075G>A
ENST00000647158.1:c.*1486G>A	ENSP00000495744.1:n.*1486G>A
ENST00000682051.1:n.3361G>A
ENST00000682110.1:n.3414G>A
ENST00000682140.1:c.3342G>A	ENSP00000507829.1:p.Thr1114=
ENST00000682185.1:n.4650G>A
ENST00000682204.1:c.*1483G>A	ENSP00000507094.1:n.*1483G>A
ENST00000682215.1:n.3411G>A
ENST00000682288.1:c.*1776G>A	ENSP00000507506.1:n.*1776G>A
ENST00000682442.1:n.3634G>A
ENST00000682528.1:n.3491G>A
ENST00000682673.1:n.3358G>A
ENST00000682805.1:n.3411G>A
ENST00000682965.1:c.3342G>A	ENSP00000508229.1:p.Thr1114=
ENST00000683093.1:n.3513G>A
ENST00000683136.1:c.3342G>A	ENSP00000507768.1:p.Thr1114=
ENST00000683153.1:n.3570G>A
ENST00000683365.1:n.3516G>A
ENST00000683377.1:n.3414G>A
ENST00000683456.1:c.*482G>A	ENSP00000508318.1:n.*482G>A
ENST00000683522.1:n.3414G>A
ENST00000683562.1:c.*1514G>A	ENSP00000508265.1:n.*1514G>A
ENST00000683693.1:n.3491G>A
ENST00000683725.1:c.3345G>A	ENSP00000507496.1:p.Thr1115=
ENST00000684010.1:n.3409G>A
ENST00000684157.1:n.3414G>A
ENST00000684253.1:n.3317G>A
ENST00000684288.1:c.*1517G>A	ENSP00000507143.1:n.*1517G>A
ENST00000684313.1:n.2846G>A
ENST00000684332.1:n.3487G>A
ENST00000684371.1:n.3520G>A
ENST00000684404.1:n.3457G>A
ENST00000684442.1:n.3414G>A
ENST00000684555.1:c.*1557G>A	ENSP00000507705.1:n.*1557G>A
ENST00000684571.1:c.3186G>A	ENSP00000506935.1:p.Thr1062=
ENST00000684593.1:c.*3050G>A	ENSP00000507005.1:n.*3050G>A
ENST00000684711.1:c.*1741G>A	ENSP00000506841.1:n.*1741G>A
XM_011520331.1:c.3345G>A	XP_011518633.1:p.Thr1115=
XM_011520332.1:c.3348G>A	XP_011518634.1:p.Thr1116=
XM_011520333.1:c.1845G>A	XP_011518635.1:p.Thr615=
XM_017018197.2:c.3414G>A	XP_016873686.1:p.Thr1138=
XM_017018199.1:c.3411G>A	XP_016873688.1:p.Thr1137=
XM_017018201.2:c.3414G>A	XP_016873690.1:p.Thr1138=
XM_017018202.1:c.1911G>A	XP_016873691.1:p.Thr637=
XM_017018204.1:c.1302G>A	XP_016873693.1:p.Thr434=
XM_024448668.1:c.1713G>A	XP_024304436.1:p.Thr571=
XR_001747945.2:n.3486G>A
XR_001747946.2:n.3417G>A
XR_002957189.1:n.3566G>A
XR_930890.1:n.3411G>A
XR_930891.1:n.3412G>A
XR_930892.1:n.3311G>A
XR_930893.1:n.3308G>A