Canonical Allele Identifier: CA473300225

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428189C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406642C>G , CM000673.2:g.17406642C>G	GRCh38
NC_000011.9:g.17428189C>G , CM000673.1:g.17428189C>G	GRCh37
NC_000011.8:g.17384765C>G	NCBI36
NG_008867.1:g.75261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2878G>C
ENST00000529967.6:n.1648G>C
ENST00000532220.2:n.1041G>C
ENST00000642611.2:n.3378G>C
ENST00000645004.2:n.808G>C
ENST00000682051.1:n.3325G>C
ENST00000682110.1:n.3378G>C
ENST00000682140.1:c.3306G>C	ENSP00000507829.1:p.Arg1102=
ENST00000682185.1:n.4614G>C
ENST00000682204.1:c.*1447G>C	ENSP00000507094.1:n.*1447G>C
ENST00000682215.1:n.3375G>C
ENST00000682288.1:c.*1740G>C	ENSP00000507506.1:n.*1740G>C
ENST00000682442.1:n.3598G>C
ENST00000682528.1:n.3455G>C
ENST00000682673.1:n.3322G>C
ENST00000682805.1:n.3375G>C
ENST00000682965.1:c.3306G>C	ENSP00000508229.1:p.Arg1102=
ENST00000683093.1:n.3477G>C
ENST00000683136.1:c.3306G>C	ENSP00000507768.1:p.Arg1102=
ENST00000683153.1:n.3534G>C
ENST00000683365.1:n.3480G>C
ENST00000683377.1:n.3378G>C
ENST00000683456.1:c.*446G>C	ENSP00000508318.1:n.*446G>C
ENST00000683522.1:n.3378G>C
ENST00000683562.1:c.*1478G>C	ENSP00000508265.1:n.*1478G>C
ENST00000683693.1:n.3455G>C
ENST00000683725.1:c.3309G>C	ENSP00000507496.1:p.Arg1103=
ENST00000684010.1:n.3373G>C
ENST00000684157.1:n.3378G>C
ENST00000684253.1:n.3281G>C
ENST00000684288.1:c.*1481G>C	ENSP00000507143.1:n.*1481G>C
ENST00000684313.1:n.2810G>C
ENST00000684332.1:n.3451G>C
ENST00000684371.1:n.3484G>C
ENST00000684404.1:n.3421G>C
ENST00000684442.1:n.3378G>C
ENST00000684555.1:c.*1521G>C	ENSP00000507705.1:n.*1521G>C
ENST00000684571.1:c.3150G>C	ENSP00000506935.1:p.Arg1050=
ENST00000684593.1:c.*3014G>C	ENSP00000507005.1:n.*3014G>C
ENST00000684711.1:c.*1705G>C	ENSP00000506841.1:n.*1705G>C
ENST00000302539.9:c.3312G>C	ENSP00000303960.4:p.Arg1104=
ENST00000389817.8:c.3309G>C MANE Select	ENSP00000374467.4:p.Arg1103=
ENST00000642271.1:c.3306G>C	ENSP00000493749.1:p.Arg1102=
ENST00000642579.1:c.1393G>C
ENST00000642611.1:n.3263G>C
ENST00000642902.1:c.3091G>C
ENST00000643260.1:c.3309G>C	ENSP00000494450.1:p.Arg1103=
ENST00000643562.1:c.*1285G>C	ENSP00000496124.1:n.*1285G>C
ENST00000643925.1:c.1433G>C
ENST00000644447.1:c.1665G>C	ENSP00000496282.1:p.Arg555=
ENST00000644484.1:c.*1564G>C	ENSP00000493558.1:n.*1564G>C
ENST00000644542.1:c.*3113G>C	ENSP00000495532.1:n.*3113G>C
ENST00000644675.1:c.*1481G>C	ENSP00000494567.1:n.*1481G>C
ENST00000644757.1:c.*1594G>C	ENSP00000495085.1:n.*1594G>C
ENST00000644772.1:c.3375G>C	ENSP00000494321.1:p.Arg1125=
ENST00000645004.1:n.448G>C
ENST00000645076.1:c.2508G>C
ENST00000645417.1:c.475G>C
ENST00000645744.1:c.*1573G>C	ENSP00000494564.1:n.*1573G>C
ENST00000645760.1:c.3584G>C
ENST00000645884.1:c.*446G>C	ENSP00000495516.1:n.*446G>C
ENST00000646003.1:c.*1265G>C	ENSP00000495259.1:n.*1265G>C
ENST00000646207.1:c.*1776G>C	ENSP00000495025.1:n.*1776G>C
ENST00000646276.1:c.*1582G>C	ENSP00000496070.1:n.*1582G>C
ENST00000646592.1:c.2615G>C
ENST00000646902.1:c.3306G>C	ENSP00000494101.1:p.Arg1102=
ENST00000646993.1:c.*1705G>C	ENSP00000493720.1:n.*1705G>C
ENST00000647013.1:c.3315G>C	ENSP00000496741.1:n.3315G>C
ENST00000647015.1:c.3060G>C	ENSP00000495389.1:p.Arg1020=
ENST00000647086.1:c.*3039G>C	ENSP00000493677.1:n.*3039G>C
ENST00000647158.1:c.*1450G>C	ENSP00000495744.1:n.*1450G>C
ENST00000302539.8:c.3312G>C	ENSP00000303960.4:p.Arg1104=
ENST00000389817.7:c.3309G>C	ENSP00000374467.3:p.Arg1103=
ENST00000524561.1:n.441G>C
ENST00000527905.5:c.*185G>C	ENSP00000431653.1:n.*185G>C
NM_000352.4:c.3309G>C	NP_000343.2:p.Arg1103=
NM_001287174.1:c.3312G>C	NP_001274103.1:p.Arg1104=
XM_011520331.1:c.3309G>C	XP_011518633.1:p.Arg1103=
XM_011520332.1:c.3312G>C	XP_011518634.1:p.Arg1104=
XM_011520333.1:c.1809G>C	XP_011518635.1:p.Arg603=
XR_930890.1:n.3375G>C
XR_930891.1:n.3375G>C
XR_930892.1:n.3275G>C
XR_930893.1:n.3272G>C
NM_001351295.1:c.3375G>C	NP_001338224.1:p.Arg1125=
NM_001351296.1:c.3309G>C	NP_001338225.1:p.Arg1103=
NM_001351297.1:c.3306G>C	NP_001338226.1:p.Arg1102=
NR_147094.1:n.3458G>C
XM_017018197.2:c.3378G>C	XP_016873686.1:p.Arg1126=
XM_017018199.1:c.3375G>C	XP_016873688.1:p.Arg1125=
XM_017018201.2:c.3378G>C	XP_016873690.1:p.Arg1126=
XM_017018202.1:c.1875G>C	XP_016873691.1:p.Arg625=
XM_017018204.1:c.1266G>C	XP_016873693.1:p.Arg422=
XM_024448668.1:c.1677G>C	XP_024304436.1:p.Arg559=
XR_001747945.2:n.3450G>C
XR_001747946.2:n.3381G>C
XR_002957189.1:n.3530G>C
NM_000352.6:c.3309G>C MANE Select	NP_000343.2:p.Arg1103=
NM_001287174.2:c.3312G>C	NP_001274103.1:p.Arg1104=
NM_001351295.2:c.3375G>C	NP_001338224.1:p.Arg1125=
NM_001351296.2:c.3309G>C	NP_001338225.1:p.Arg1103=
NM_001351297.2:c.3306G>C	NP_001338226.1:p.Arg1102=
NR_147094.2:n.3458G>C
NM_001287174.3:c.3312G>C	NP_001274103.1:p.Arg1104=