Canonical Allele Identifier: CA379799659

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426210G>T (hg19) ; chr11:g.17404663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404663G>T , CM000673.2:g.17404663G>T	GRCh38
NC_000011.9:g.17426210G>T , CM000673.1:g.17426210G>T	GRCh37
NC_000011.8:g.17382786G>T	NCBI36
NG_008867.1:g.77240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2975C>A
ENST00000529967.6:n.1745C>A
ENST00000532220.2:n.1138C>A
ENST00000642611.2:n.3475C>A
ENST00000645004.2:n.905C>A
ENST00000682051.1:n.3422C>A
ENST00000682110.1:n.3475C>A
ENST00000682140.1:c.3403C>A	ENSP00000507829.1:p.Pro1135Thr
ENST00000682185.1:n.4711C>A
ENST00000682204.1:c.*1544C>A	ENSP00000507094.1:n.*1544C>A
ENST00000682215.1:n.3472C>A
ENST00000682288.1:c.*1837C>A	ENSP00000507506.1:n.*1837C>A
ENST00000682442.1:n.3695C>A
ENST00000682528.1:n.3552C>A
ENST00000682673.1:n.3419C>A
ENST00000682805.1:n.3472C>A
ENST00000682965.1:c.3396+831C>A	ENSP00000508229.1:n.3396+831C>A
ENST00000683093.1:n.3574C>A
ENST00000683136.1:c.3403C>A	ENSP00000507768.1:p.Pro1135Thr
ENST00000683153.1:n.3631C>A
ENST00000683365.1:n.3577C>A
ENST00000683377.1:n.3475C>A
ENST00000683456.1:c.*543C>A	ENSP00000508318.1:n.*543C>A
ENST00000683522.1:n.3475C>A
ENST00000683562.1:c.*1575C>A	ENSP00000508265.1:n.*1575C>A
ENST00000683693.1:n.3552C>A
ENST00000683725.1:c.3406C>A	ENSP00000507496.1:p.Pro1136Thr
ENST00000684010.1:n.3470C>A
ENST00000684157.1:n.3475C>A
ENST00000684253.1:n.3378C>A
ENST00000684288.1:c.*1578C>A	ENSP00000507143.1:n.*1578C>A
ENST00000684313.1:n.2907C>A
ENST00000684332.1:n.3548C>A
ENST00000684371.1:n.3581C>A
ENST00000684404.1:n.3518C>A
ENST00000684442.1:n.3475C>A
ENST00000684555.1:c.*1618C>A	ENSP00000507705.1:n.*1618C>A
ENST00000684571.1:c.3247C>A	ENSP00000506935.1:p.Pro1083Thr
ENST00000684593.1:c.*3111C>A	ENSP00000507005.1:n.*3111C>A
ENST00000684711.1:c.*1802C>A	ENSP00000506841.1:n.*1802C>A
ENST00000302539.9:c.3409C>A	ENSP00000303960.4:p.Pro1137Thr
ENST00000389817.8:c.3406C>A MANE Select	ENSP00000374467.4:p.Pro1136Thr
ENST00000642271.1:c.3403C>A	ENSP00000493749.1:p.Pro1135Thr
ENST00000642579.1:c.1490C>A
ENST00000642611.1:n.3360C>A
ENST00000642902.1:c.3188C>A
ENST00000643260.1:c.3406C>A	ENSP00000494450.1:p.Pro1136Thr
ENST00000643562.1:c.*1382C>A	ENSP00000496124.1:n.*1382C>A
ENST00000643925.1:c.1530C>A
ENST00000644447.1:c.1762C>A	ENSP00000496282.1:p.Pro588Thr
ENST00000644484.1:c.*1661C>A	ENSP00000493558.1:n.*1661C>A
ENST00000644675.1:c.*1578C>A	ENSP00000494567.1:n.*1578C>A
ENST00000644757.1:c.*1691C>A	ENSP00000495085.1:n.*1691C>A
ENST00000644772.1:c.3472C>A	ENSP00000494321.1:p.Pro1158Thr
ENST00000645004.1:n.545C>A
ENST00000645076.1:c.2605C>A
ENST00000645417.1:c.572C>A
ENST00000645744.1:c.*1670C>A	ENSP00000494564.1:n.*1670C>A
ENST00000645760.1:c.3681C>A
ENST00000645884.1:c.*543C>A	ENSP00000495516.1:n.*543C>A
ENST00000646003.1:c.*1362C>A	ENSP00000495259.1:n.*1362C>A
ENST00000646207.1:c.*1873C>A	ENSP00000495025.1:n.*1873C>A
ENST00000646276.1:c.*1679C>A	ENSP00000496070.1:n.*1679C>A
ENST00000646592.1:c.2712C>A
ENST00000646902.1:c.3403C>A	ENSP00000494101.1:p.Pro1135Thr
ENST00000646993.1:c.*1802C>A	ENSP00000493720.1:n.*1802C>A
ENST00000647013.1:c.3412C>A	ENSP00000496741.1:n.3412C>A
ENST00000647015.1:c.3157C>A	ENSP00000495389.1:p.Pro1053Thr
ENST00000647086.1:c.*3136C>A	ENSP00000493677.1:n.*3136C>A
ENST00000647158.1:c.*1547C>A	ENSP00000495744.1:n.*1547C>A
ENST00000302539.8:c.3409C>A	ENSP00000303960.4:p.Pro1137Thr
ENST00000389817.7:c.3406C>A	ENSP00000374467.3:p.Pro1136Thr
ENST00000524561.1:n.538C>A
ENST00000527905.5:c.*282C>A	ENSP00000431653.1:n.*282C>A
NM_000352.4:c.3406C>A	NP_000343.2:p.Pro1136Thr
NM_001287174.1:c.3409C>A	NP_001274103.1:p.Pro1137Thr
XM_011520331.1:c.3406C>A	XP_011518633.1:p.Pro1136Thr
XM_011520332.1:c.3409C>A	XP_011518634.1:p.Pro1137Thr
XM_011520333.1:c.1906C>A	XP_011518635.1:p.Pro636Thr
XR_930890.1:n.3472C>A
XR_930891.1:n.3473C>A
XR_930892.1:n.3372C>A
XR_930893.1:n.3369C>A
NM_001351295.1:c.3472C>A	NP_001338224.1:p.Pro1158Thr
NM_001351296.1:c.3406C>A	NP_001338225.1:p.Pro1136Thr
NM_001351297.1:c.3403C>A	NP_001338226.1:p.Pro1135Thr
NR_147094.1:n.3555C>A
XM_017018197.2:c.3475C>A	XP_016873686.1:p.Pro1159Thr
XM_017018199.1:c.3472C>A	XP_016873688.1:p.Pro1158Thr
XM_017018201.2:c.3475C>A	XP_016873690.1:p.Pro1159Thr
XM_017018202.1:c.1972C>A	XP_016873691.1:p.Pro658Thr
XM_017018204.1:c.1363C>A	XP_016873693.1:p.Pro455Thr
XM_024448668.1:c.1774C>A	XP_024304436.1:p.Pro592Thr
XR_001747945.2:n.3547C>A
XR_001747946.2:n.3478C>A
XR_002957189.1:n.3627C>A
NM_000352.6:c.3406C>A MANE Select	NP_000343.2:p.Pro1136Thr
NM_001287174.2:c.3409C>A	NP_001274103.1:p.Pro1137Thr
NM_001351295.2:c.3472C>A	NP_001338224.1:p.Pro1158Thr
NM_001351296.2:c.3406C>A	NP_001338225.1:p.Pro1136Thr
NM_001351297.2:c.3403C>A	NP_001338226.1:p.Pro1135Thr
NR_147094.2:n.3555C>A
NM_001287174.3:c.3409C>A	NP_001274103.1:p.Pro1137Thr