Canonical Allele Identifier: CA379801227

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428190C>G (hg19) ; chr11:g.17406643C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406643C>G , CM000673.2:g.17406643C>G	GRCh38
NC_000011.9:g.17428190C>G , CM000673.1:g.17428190C>G	GRCh37
NC_000011.8:g.17384766C>G	NCBI36
NG_008867.1:g.75260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2877G>C
ENST00000529967.6:n.1647G>C
ENST00000532220.2:n.1040G>C
ENST00000642611.2:n.3377G>C
ENST00000645004.2:n.807G>C
ENST00000682051.1:n.3324G>C
ENST00000682110.1:n.3377G>C
ENST00000682140.1:c.3305G>C	ENSP00000507829.1:p.Arg1102Pro
ENST00000682185.1:n.4613G>C
ENST00000682204.1:c.*1446G>C	ENSP00000507094.1:n.*1446G>C
ENST00000682215.1:n.3374G>C
ENST00000682288.1:c.*1739G>C	ENSP00000507506.1:n.*1739G>C
ENST00000682442.1:n.3597G>C
ENST00000682528.1:n.3454G>C
ENST00000682673.1:n.3321G>C
ENST00000682805.1:n.3374G>C
ENST00000682965.1:c.3305G>C	ENSP00000508229.1:p.Arg1102Pro
ENST00000683093.1:n.3476G>C
ENST00000683136.1:c.3305G>C	ENSP00000507768.1:p.Arg1102Pro
ENST00000683153.1:n.3533G>C
ENST00000683365.1:n.3479G>C
ENST00000683377.1:n.3377G>C
ENST00000683456.1:c.*445G>C	ENSP00000508318.1:n.*445G>C
ENST00000683522.1:n.3377G>C
ENST00000683562.1:c.*1477G>C	ENSP00000508265.1:n.*1477G>C
ENST00000683693.1:n.3454G>C
ENST00000683725.1:c.3308G>C	ENSP00000507496.1:p.Arg1103Pro
ENST00000684010.1:n.3372G>C
ENST00000684157.1:n.3377G>C
ENST00000684253.1:n.3280G>C
ENST00000684288.1:c.*1480G>C	ENSP00000507143.1:n.*1480G>C
ENST00000684313.1:n.2809G>C
ENST00000684332.1:n.3450G>C
ENST00000684371.1:n.3483G>C
ENST00000684404.1:n.3420G>C
ENST00000684442.1:n.3377G>C
ENST00000684555.1:c.*1520G>C	ENSP00000507705.1:n.*1520G>C
ENST00000684571.1:c.3149G>C	ENSP00000506935.1:p.Arg1050Pro
ENST00000684593.1:c.*3013G>C	ENSP00000507005.1:n.*3013G>C
ENST00000684711.1:c.*1704G>C	ENSP00000506841.1:n.*1704G>C
ENST00000302539.9:c.3311G>C	ENSP00000303960.4:p.Arg1104Pro
ENST00000389817.8:c.3308G>C MANE Select	ENSP00000374467.4:p.Arg1103Pro
ENST00000642271.1:c.3305G>C	ENSP00000493749.1:p.Arg1102Pro
ENST00000642579.1:c.1392G>C
ENST00000642611.1:n.3262G>C
ENST00000642902.1:c.3090G>C
ENST00000643260.1:c.3308G>C	ENSP00000494450.1:p.Arg1103Pro
ENST00000643562.1:c.*1284G>C	ENSP00000496124.1:n.*1284G>C
ENST00000643925.1:c.1432G>C
ENST00000644447.1:c.1664G>C	ENSP00000496282.1:p.Arg555Pro
ENST00000644484.1:c.*1563G>C	ENSP00000493558.1:n.*1563G>C
ENST00000644542.1:c.*3112G>C	ENSP00000495532.1:n.*3112G>C
ENST00000644675.1:c.*1480G>C	ENSP00000494567.1:n.*1480G>C
ENST00000644757.1:c.*1593G>C	ENSP00000495085.1:n.*1593G>C
ENST00000644772.1:c.3374G>C	ENSP00000494321.1:p.Arg1125Pro
ENST00000645004.1:n.447G>C
ENST00000645076.1:c.2507G>C
ENST00000645417.1:c.474G>C
ENST00000645744.1:c.*1572G>C	ENSP00000494564.1:n.*1572G>C
ENST00000645760.1:c.3583G>C
ENST00000645884.1:c.*445G>C	ENSP00000495516.1:n.*445G>C
ENST00000646003.1:c.*1264G>C	ENSP00000495259.1:n.*1264G>C
ENST00000646207.1:c.*1775G>C	ENSP00000495025.1:n.*1775G>C
ENST00000646276.1:c.*1581G>C	ENSP00000496070.1:n.*1581G>C
ENST00000646592.1:c.2614G>C
ENST00000646902.1:c.3305G>C	ENSP00000494101.1:p.Arg1102Pro
ENST00000646993.1:c.*1704G>C	ENSP00000493720.1:n.*1704G>C
ENST00000647013.1:c.3314G>C	ENSP00000496741.1:n.3314G>C
ENST00000647015.1:c.3059G>C	ENSP00000495389.1:p.Arg1020Pro
ENST00000647086.1:c.*3038G>C	ENSP00000493677.1:n.*3038G>C
ENST00000647158.1:c.*1449G>C	ENSP00000495744.1:n.*1449G>C
ENST00000302539.8:c.3311G>C	ENSP00000303960.4:p.Arg1104Pro
ENST00000389817.7:c.3308G>C	ENSP00000374467.3:p.Arg1103Pro
ENST00000524561.1:n.440G>C
ENST00000527905.5:c.*184G>C	ENSP00000431653.1:n.*184G>C
NM_000352.4:c.3308G>C	NP_000343.2:p.Arg1103Pro
NM_001287174.1:c.3311G>C	NP_001274103.1:p.Arg1104Pro
XM_011520331.1:c.3308G>C	XP_011518633.1:p.Arg1103Pro
XM_011520332.1:c.3311G>C	XP_011518634.1:p.Arg1104Pro
XM_011520333.1:c.1808G>C	XP_011518635.1:p.Arg603Pro
XR_930890.1:n.3374G>C
XR_930891.1:n.3374G>C
XR_930892.1:n.3274G>C
XR_930893.1:n.3271G>C
NM_001351295.1:c.3374G>C	NP_001338224.1:p.Arg1125Pro
NM_001351296.1:c.3308G>C	NP_001338225.1:p.Arg1103Pro
NM_001351297.1:c.3305G>C	NP_001338226.1:p.Arg1102Pro
NR_147094.1:n.3457G>C
XM_017018197.2:c.3377G>C	XP_016873686.1:p.Arg1126Pro
XM_017018199.1:c.3374G>C	XP_016873688.1:p.Arg1125Pro
XM_017018201.2:c.3377G>C	XP_016873690.1:p.Arg1126Pro
XM_017018202.1:c.1874G>C	XP_016873691.1:p.Arg625Pro
XM_017018204.1:c.1265G>C	XP_016873693.1:p.Arg422Pro
XM_024448668.1:c.1676G>C	XP_024304436.1:p.Arg559Pro
XR_001747945.2:n.3449G>C
XR_001747946.2:n.3380G>C
XR_002957189.1:n.3529G>C
NM_000352.6:c.3308G>C MANE Select	NP_000343.2:p.Arg1103Pro
NM_001287174.2:c.3311G>C	NP_001274103.1:p.Arg1104Pro
NM_001351295.2:c.3374G>C	NP_001338224.1:p.Arg1125Pro
NM_001351296.2:c.3308G>C	NP_001338225.1:p.Arg1103Pro
NM_001351297.2:c.3305G>C	NP_001338226.1:p.Arg1102Pro
NR_147094.2:n.3457G>C
NM_001287174.3:c.3311G>C	NP_001274103.1:p.Arg1104Pro