Canonical Allele Identifier: CA379800996

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428169C>G (hg19) ; chr11:g.17406622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406622C>G , CM000673.2:g.17406622C>G	GRCh38
NC_000011.9:g.17428169C>G , CM000673.1:g.17428169C>G	GRCh37
NC_000011.8:g.17384745C>G	NCBI36
NG_008867.1:g.75281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2898G>C
ENST00000529967.6:n.1668G>C
ENST00000532220.2:n.1061G>C
ENST00000642611.2:n.3398G>C
ENST00000645004.2:n.828G>C
ENST00000682051.1:n.3345G>C
ENST00000682110.1:n.3398G>C
ENST00000682140.1:c.3326G>C	ENSP00000507829.1:p.Arg1109Thr
ENST00000682185.1:n.4634G>C
ENST00000682204.1:c.*1467G>C	ENSP00000507094.1:n.*1467G>C
ENST00000682215.1:n.3395G>C
ENST00000682288.1:c.*1760G>C	ENSP00000507506.1:n.*1760G>C
ENST00000682442.1:n.3618G>C
ENST00000682528.1:n.3475G>C
ENST00000682673.1:n.3342G>C
ENST00000682805.1:n.3395G>C
ENST00000682965.1:c.3326G>C	ENSP00000508229.1:p.Arg1109Thr
ENST00000683093.1:n.3497G>C
ENST00000683136.1:c.3326G>C	ENSP00000507768.1:p.Arg1109Thr
ENST00000683153.1:n.3554G>C
ENST00000683365.1:n.3500G>C
ENST00000683377.1:n.3398G>C
ENST00000683456.1:c.*466G>C	ENSP00000508318.1:n.*466G>C
ENST00000683522.1:n.3398G>C
ENST00000683562.1:c.*1498G>C	ENSP00000508265.1:n.*1498G>C
ENST00000683693.1:n.3475G>C
ENST00000683725.1:c.3329G>C	ENSP00000507496.1:p.Arg1110Thr
ENST00000684010.1:n.3393G>C
ENST00000684157.1:n.3398G>C
ENST00000684253.1:n.3301G>C
ENST00000684288.1:c.*1501G>C	ENSP00000507143.1:n.*1501G>C
ENST00000684313.1:n.2830G>C
ENST00000684332.1:n.3471G>C
ENST00000684371.1:n.3504G>C
ENST00000684404.1:n.3441G>C
ENST00000684442.1:n.3398G>C
ENST00000684555.1:c.*1541G>C	ENSP00000507705.1:n.*1541G>C
ENST00000684571.1:c.3170G>C	ENSP00000506935.1:p.Arg1057Thr
ENST00000684593.1:c.*3034G>C	ENSP00000507005.1:n.*3034G>C
ENST00000684711.1:c.*1725G>C	ENSP00000506841.1:n.*1725G>C
ENST00000302539.9:c.3332G>C	ENSP00000303960.4:p.Arg1111Thr
ENST00000389817.8:c.3329G>C MANE Select	ENSP00000374467.4:p.Arg1110Thr
ENST00000642271.1:c.3326G>C	ENSP00000493749.1:p.Arg1109Thr
ENST00000642579.1:c.1413G>C
ENST00000642611.1:n.3283G>C
ENST00000642902.1:c.3111G>C
ENST00000643260.1:c.3329G>C	ENSP00000494450.1:p.Arg1110Thr
ENST00000643562.1:c.*1305G>C	ENSP00000496124.1:n.*1305G>C
ENST00000643925.1:c.1453G>C
ENST00000644447.1:c.1685G>C	ENSP00000496282.1:p.Arg562Thr
ENST00000644484.1:c.*1584G>C	ENSP00000493558.1:n.*1584G>C
ENST00000644542.1:c.*3133G>C	ENSP00000495532.1:n.*3133G>C
ENST00000644675.1:c.*1501G>C	ENSP00000494567.1:n.*1501G>C
ENST00000644757.1:c.*1614G>C	ENSP00000495085.1:n.*1614G>C
ENST00000644772.1:c.3395G>C	ENSP00000494321.1:p.Arg1132Thr
ENST00000645004.1:n.468G>C
ENST00000645076.1:c.2528G>C
ENST00000645417.1:c.495G>C
ENST00000645744.1:c.*1593G>C	ENSP00000494564.1:n.*1593G>C
ENST00000645760.1:c.3604G>C
ENST00000645884.1:c.*466G>C	ENSP00000495516.1:n.*466G>C
ENST00000646003.1:c.*1285G>C	ENSP00000495259.1:n.*1285G>C
ENST00000646207.1:c.*1796G>C	ENSP00000495025.1:n.*1796G>C
ENST00000646276.1:c.*1602G>C	ENSP00000496070.1:n.*1602G>C
ENST00000646592.1:c.2635G>C
ENST00000646902.1:c.3326G>C	ENSP00000494101.1:p.Arg1109Thr
ENST00000646993.1:c.*1725G>C	ENSP00000493720.1:n.*1725G>C
ENST00000647013.1:c.3335G>C	ENSP00000496741.1:n.3335G>C
ENST00000647015.1:c.3080G>C	ENSP00000495389.1:p.Arg1027Thr
ENST00000647086.1:c.*3059G>C	ENSP00000493677.1:n.*3059G>C
ENST00000647158.1:c.*1470G>C	ENSP00000495744.1:n.*1470G>C
ENST00000302539.8:c.3332G>C	ENSP00000303960.4:p.Arg1111Thr
ENST00000389817.7:c.3329G>C	ENSP00000374467.3:p.Arg1110Thr
ENST00000524561.1:n.461G>C
ENST00000527905.5:c.*205G>C	ENSP00000431653.1:n.*205G>C
NM_000352.4:c.3329G>C	NP_000343.2:p.Arg1110Thr
NM_001287174.1:c.3332G>C	NP_001274103.1:p.Arg1111Thr
XM_011520331.1:c.3329G>C	XP_011518633.1:p.Arg1110Thr
XM_011520332.1:c.3332G>C	XP_011518634.1:p.Arg1111Thr
XM_011520333.1:c.1829G>C	XP_011518635.1:p.Arg610Thr
XR_930890.1:n.3395G>C
XR_930891.1:n.3395G>C
XR_930892.1:n.3295G>C
XR_930893.1:n.3292G>C
NM_001351295.1:c.3395G>C	NP_001338224.1:p.Arg1132Thr
NM_001351296.1:c.3329G>C	NP_001338225.1:p.Arg1110Thr
NM_001351297.1:c.3326G>C	NP_001338226.1:p.Arg1109Thr
NR_147094.1:n.3478G>C
XM_017018197.2:c.3398G>C	XP_016873686.1:p.Arg1133Thr
XM_017018199.1:c.3395G>C	XP_016873688.1:p.Arg1132Thr
XM_017018201.2:c.3398G>C	XP_016873690.1:p.Arg1133Thr
XM_017018202.1:c.1895G>C	XP_016873691.1:p.Arg632Thr
XM_017018204.1:c.1286G>C	XP_016873693.1:p.Arg429Thr
XM_024448668.1:c.1697G>C	XP_024304436.1:p.Arg566Thr
XR_001747945.2:n.3470G>C
XR_001747946.2:n.3401G>C
XR_002957189.1:n.3550G>C
NM_000352.6:c.3329G>C MANE Select	NP_000343.2:p.Arg1110Thr
NM_001287174.2:c.3332G>C	NP_001274103.1:p.Arg1111Thr
NM_001351295.2:c.3395G>C	NP_001338224.1:p.Arg1132Thr
NM_001351296.2:c.3329G>C	NP_001338225.1:p.Arg1110Thr
NM_001351297.2:c.3326G>C	NP_001338226.1:p.Arg1109Thr
NR_147094.2:n.3478G>C
NM_001287174.3:c.3332G>C	NP_001274103.1:p.Arg1111Thr