Canonical Allele Identifier: CA379801471

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428214C>T (hg19) ; chr11:g.17406667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406667C>T , CM000673.2:g.17406667C>T	GRCh38
NC_000011.9:g.17428214C>T , CM000673.1:g.17428214C>T	GRCh37
NC_000011.8:g.17384790C>T	NCBI36
NG_008867.1:g.75236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2853G>A
ENST00000529967.6:n.1623G>A
ENST00000532220.2:n.1016G>A
ENST00000642611.2:n.3353G>A
ENST00000645004.2:n.783G>A
ENST00000682051.1:n.3300G>A
ENST00000682110.1:n.3353G>A
ENST00000682140.1:c.3281G>A	ENSP00000507829.1:p.Arg1094Lys
ENST00000682185.1:n.4589G>A
ENST00000682204.1:c.*1422G>A	ENSP00000507094.1:n.*1422G>A
ENST00000682215.1:n.3350G>A
ENST00000682288.1:c.*1715G>A	ENSP00000507506.1:n.*1715G>A
ENST00000682442.1:n.3573G>A
ENST00000682528.1:n.3430G>A
ENST00000682673.1:n.3297G>A
ENST00000682805.1:n.3350G>A
ENST00000682965.1:c.3281G>A	ENSP00000508229.1:p.Arg1094Lys
ENST00000683093.1:n.3452G>A
ENST00000683136.1:c.3281G>A	ENSP00000507768.1:p.Arg1094Lys
ENST00000683153.1:n.3509G>A
ENST00000683365.1:n.3455G>A
ENST00000683377.1:n.3353G>A
ENST00000683456.1:c.*421G>A	ENSP00000508318.1:n.*421G>A
ENST00000683522.1:n.3353G>A
ENST00000683562.1:c.*1453G>A	ENSP00000508265.1:n.*1453G>A
ENST00000683693.1:n.3430G>A
ENST00000683725.1:c.3284G>A	ENSP00000507496.1:p.Arg1095Lys
ENST00000684010.1:n.3348G>A
ENST00000684157.1:n.3353G>A
ENST00000684253.1:n.3256G>A
ENST00000684288.1:c.*1456G>A	ENSP00000507143.1:n.*1456G>A
ENST00000684313.1:n.2785G>A
ENST00000684332.1:n.3426G>A
ENST00000684371.1:n.3459G>A
ENST00000684404.1:n.3396G>A
ENST00000684442.1:n.3353G>A
ENST00000684555.1:c.*1496G>A	ENSP00000507705.1:n.*1496G>A
ENST00000684571.1:c.3125G>A	ENSP00000506935.1:p.Arg1042Lys
ENST00000684593.1:c.*2989G>A	ENSP00000507005.1:n.*2989G>A
ENST00000684711.1:c.*1680G>A	ENSP00000506841.1:n.*1680G>A
ENST00000302539.9:c.3287G>A	ENSP00000303960.4:p.Arg1096Lys
ENST00000389817.8:c.3284G>A MANE Select	ENSP00000374467.4:p.Arg1095Lys
ENST00000642271.1:c.3281G>A	ENSP00000493749.1:p.Arg1094Lys
ENST00000642579.1:c.1368G>A
ENST00000642611.1:n.3238G>A
ENST00000642902.1:c.3066G>A
ENST00000643260.1:c.3284G>A	ENSP00000494450.1:p.Arg1095Lys
ENST00000643562.1:c.*1260G>A	ENSP00000496124.1:n.*1260G>A
ENST00000643925.1:c.1408G>A
ENST00000644447.1:c.1640G>A	ENSP00000496282.1:p.Arg547Lys
ENST00000644484.1:c.*1539G>A	ENSP00000493558.1:n.*1539G>A
ENST00000644542.1:c.*3088G>A	ENSP00000495532.1:n.*3088G>A
ENST00000644675.1:c.*1456G>A	ENSP00000494567.1:n.*1456G>A
ENST00000644757.1:c.*1569G>A	ENSP00000495085.1:n.*1569G>A
ENST00000644772.1:c.3350G>A	ENSP00000494321.1:p.Arg1117Lys
ENST00000645004.1:n.423G>A
ENST00000645076.1:c.2483G>A
ENST00000645417.1:c.450G>A
ENST00000645744.1:c.*1548G>A	ENSP00000494564.1:n.*1548G>A
ENST00000645760.1:c.3559G>A
ENST00000645884.1:c.*421G>A	ENSP00000495516.1:n.*421G>A
ENST00000646003.1:c.*1240G>A	ENSP00000495259.1:n.*1240G>A
ENST00000646207.1:c.*1751G>A	ENSP00000495025.1:n.*1751G>A
ENST00000646276.1:c.*1557G>A	ENSP00000496070.1:n.*1557G>A
ENST00000646592.1:c.2590G>A
ENST00000646902.1:c.3281G>A	ENSP00000494101.1:p.Arg1094Lys
ENST00000646993.1:c.*1680G>A	ENSP00000493720.1:n.*1680G>A
ENST00000647013.1:c.3290G>A	ENSP00000496741.1:n.3290G>A
ENST00000647015.1:c.3035G>A	ENSP00000495389.1:p.Arg1012Lys
ENST00000647086.1:c.*3014G>A	ENSP00000493677.1:n.*3014G>A
ENST00000647158.1:c.*1425G>A	ENSP00000495744.1:n.*1425G>A
ENST00000302539.8:c.3287G>A	ENSP00000303960.4:p.Arg1096Lys
ENST00000389817.7:c.3284G>A	ENSP00000374467.3:p.Arg1095Lys
ENST00000524561.1:n.416G>A
ENST00000527905.5:c.*160G>A	ENSP00000431653.1:n.*160G>A
NM_000352.4:c.3284G>A	NP_000343.2:p.Arg1095Lys
NM_001287174.1:c.3287G>A	NP_001274103.1:p.Arg1096Lys
XM_011520331.1:c.3284G>A	XP_011518633.1:p.Arg1095Lys
XM_011520332.1:c.3287G>A	XP_011518634.1:p.Arg1096Lys
XM_011520333.1:c.1784G>A	XP_011518635.1:p.Arg595Lys
XR_930890.1:n.3350G>A
XR_930891.1:n.3350G>A
XR_930892.1:n.3250G>A
XR_930893.1:n.3247G>A
NM_001351295.1:c.3350G>A	NP_001338224.1:p.Arg1117Lys
NM_001351296.1:c.3284G>A	NP_001338225.1:p.Arg1095Lys
NM_001351297.1:c.3281G>A	NP_001338226.1:p.Arg1094Lys
NR_147094.1:n.3433G>A
XM_017018197.2:c.3353G>A	XP_016873686.1:p.Arg1118Lys
XM_017018199.1:c.3350G>A	XP_016873688.1:p.Arg1117Lys
XM_017018201.2:c.3353G>A	XP_016873690.1:p.Arg1118Lys
XM_017018202.1:c.1850G>A	XP_016873691.1:p.Arg617Lys
XM_017018204.1:c.1241G>A	XP_016873693.1:p.Arg414Lys
XM_024448668.1:c.1652G>A	XP_024304436.1:p.Arg551Lys
XR_001747945.2:n.3425G>A
XR_001747946.2:n.3356G>A
XR_002957189.1:n.3505G>A
NM_000352.6:c.3284G>A MANE Select	NP_000343.2:p.Arg1095Lys
NM_001287174.2:c.3287G>A	NP_001274103.1:p.Arg1096Lys
NM_001351295.2:c.3350G>A	NP_001338224.1:p.Arg1117Lys
NM_001351296.2:c.3284G>A	NP_001338225.1:p.Arg1095Lys
NM_001351297.2:c.3281G>A	NP_001338226.1:p.Arg1094Lys
NR_147094.2:n.3433G>A
NM_001287174.3:c.3287G>A	NP_001274103.1:p.Arg1096Lys