Canonical Allele Identifier: CA379803429

Gene: ABCC8

Linked Data

• dbSNP Id: rs1225850029
• MyVariant Identifiers: chr11:g.17428509C>A (hg19) ; chr11:g.17406962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406962C>A , CM000673.2:g.17406962C>A	GRCh38
NC_000011.9:g.17428509C>A , CM000673.1:g.17428509C>A	GRCh37
NC_000011.8:g.17385085C>A	NCBI36
NG_008867.1:g.74941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2657G>T
ENST00000529967.6:n.1427G>T
ENST00000532220.2:n.820G>T
ENST00000642611.2:n.3157G>T
ENST00000645004.2:n.587G>T
ENST00000682051.1:n.3104G>T
ENST00000682110.1:n.3157G>T
ENST00000682140.1:c.3085G>T	ENSP00000507829.1:p.Asp1029Tyr
ENST00000682185.1:n.4393G>T
ENST00000682204.1:c.*1226G>T	ENSP00000507094.1:n.*1226G>T
ENST00000682215.1:n.3154G>T
ENST00000682288.1:c.*1519G>T	ENSP00000507506.1:n.*1519G>T
ENST00000682442.1:n.3278G>T
ENST00000682528.1:n.3234G>T
ENST00000682673.1:n.3101G>T
ENST00000682805.1:n.3154G>T
ENST00000682965.1:c.3085G>T	ENSP00000508229.1:p.Asp1029Tyr
ENST00000683093.1:n.3256G>T
ENST00000683136.1:c.3085G>T	ENSP00000507768.1:p.Asp1029Tyr
ENST00000683153.1:n.3313G>T
ENST00000683365.1:n.3259G>T
ENST00000683377.1:n.3157G>T
ENST00000683456.1:c.*225G>T	ENSP00000508318.1:n.*225G>T
ENST00000683522.1:n.3157G>T
ENST00000683562.1:c.*1257G>T	ENSP00000508265.1:n.*1257G>T
ENST00000683693.1:n.3234G>T
ENST00000683725.1:c.3088G>T	ENSP00000507496.1:p.Asp1030Tyr
ENST00000684010.1:n.3152G>T
ENST00000684157.1:n.3157G>T
ENST00000684253.1:n.3060G>T
ENST00000684288.1:c.*1260G>T	ENSP00000507143.1:n.*1260G>T
ENST00000684313.1:n.2589G>T
ENST00000684332.1:n.3230G>T
ENST00000684371.1:n.3263G>T
ENST00000684404.1:n.3200G>T
ENST00000684442.1:n.3157G>T
ENST00000684555.1:c.*1300G>T	ENSP00000507705.1:n.*1300G>T
ENST00000684571.1:c.2929G>T	ENSP00000506935.1:p.Asp977Tyr
ENST00000684593.1:c.*2793G>T	ENSP00000507005.1:n.*2793G>T
ENST00000684711.1:c.*1484G>T	ENSP00000506841.1:n.*1484G>T
ENST00000302539.9:c.3091G>T	ENSP00000303960.4:p.Asp1031Tyr
ENST00000389817.8:c.3088G>T MANE Select	ENSP00000374467.4:p.Asp1030Tyr
ENST00000642271.1:c.3085G>T	ENSP00000493749.1:p.Asp1029Tyr
ENST00000642579.1:c.1172G>T
ENST00000642611.1:n.3042G>T
ENST00000642902.1:c.2870G>T
ENST00000643260.1:c.3088G>T	ENSP00000494450.1:p.Asp1030Tyr
ENST00000643562.1:c.*1064G>T	ENSP00000496124.1:n.*1064G>T
ENST00000643925.1:c.1212G>T
ENST00000644447.1:c.1444G>T	ENSP00000496282.1:p.Asp482Tyr
ENST00000644484.1:c.*1343G>T	ENSP00000493558.1:n.*1343G>T
ENST00000644542.1:c.*2793G>T	ENSP00000495532.1:n.*2793G>T
ENST00000644675.1:c.*1260G>T	ENSP00000494567.1:n.*1260G>T
ENST00000644757.1:c.*1373G>T	ENSP00000495085.1:n.*1373G>T
ENST00000644772.1:c.3154G>T	ENSP00000494321.1:p.Asp1052Tyr
ENST00000645004.1:n.227G>T
ENST00000645076.1:c.2287G>T
ENST00000645417.1:c.254G>T
ENST00000645744.1:c.*1352G>T	ENSP00000494564.1:n.*1352G>T
ENST00000645760.1:c.3363G>T
ENST00000645884.1:c.*225G>T	ENSP00000495516.1:n.*225G>T
ENST00000646003.1:c.*1044G>T	ENSP00000495259.1:n.*1044G>T
ENST00000646207.1:c.*1555G>T	ENSP00000495025.1:n.*1555G>T
ENST00000646276.1:c.*1361G>T	ENSP00000496070.1:n.*1361G>T
ENST00000646592.1:c.2394G>T
ENST00000646902.1:c.3085G>T	ENSP00000494101.1:p.Asp1029Tyr
ENST00000646993.1:c.*1484G>T	ENSP00000493720.1:n.*1484G>T
ENST00000647013.1:c.3094G>T	ENSP00000496741.1:n.3094G>T
ENST00000647015.1:c.2839G>T	ENSP00000495389.1:p.Asp947Tyr
ENST00000647086.1:c.*2818G>T	ENSP00000493677.1:n.*2818G>T
ENST00000647158.1:c.*1229G>T	ENSP00000495744.1:n.*1229G>T
ENST00000302539.8:c.3091G>T	ENSP00000303960.4:p.Asp1031Tyr
ENST00000389817.7:c.3088G>T	ENSP00000374467.3:p.Asp1030Tyr
ENST00000524561.1:n.220G>T
ENST00000526921.5:n.772G>T
ENST00000527905.5:c.2958G>T	ENSP00000431653.1:p.Ser986=
ENST00000529967.5:n.757G>T
NM_000352.4:c.3088G>T	NP_000343.2:p.Asp1030Tyr
NM_001287174.1:c.3091G>T	NP_001274103.1:p.Asp1031Tyr
XM_011520331.1:c.3088G>T	XP_011518633.1:p.Asp1030Tyr
XM_011520332.1:c.3091G>T	XP_011518634.1:p.Asp1031Tyr
XM_011520333.1:c.1588G>T	XP_011518635.1:p.Asp530Tyr
XR_930890.1:n.3154G>T
XR_930891.1:n.3154G>T
XR_930892.1:n.3054G>T
XR_930893.1:n.3051G>T
NM_001351295.1:c.3154G>T	NP_001338224.1:p.Asp1052Tyr
NM_001351296.1:c.3088G>T	NP_001338225.1:p.Asp1030Tyr
NM_001351297.1:c.3085G>T	NP_001338226.1:p.Asp1029Tyr
NR_147094.1:n.3237G>T
XM_017018197.2:c.3157G>T	XP_016873686.1:p.Asp1053Tyr
XM_017018199.1:c.3154G>T	XP_016873688.1:p.Asp1052Tyr
XM_017018201.2:c.3157G>T	XP_016873690.1:p.Asp1053Tyr
XM_017018202.1:c.1654G>T	XP_016873691.1:p.Asp552Tyr
XM_017018204.1:c.1045G>T	XP_016873693.1:p.Asp349Tyr
XM_024448668.1:c.1456G>T	XP_024304436.1:p.Asp486Tyr
XR_001747945.2:n.3229G>T
XR_001747946.2:n.3160G>T
XR_002957189.1:n.3309G>T
NM_000352.6:c.3088G>T MANE Select	NP_000343.2:p.Asp1030Tyr
NM_001287174.2:c.3091G>T	NP_001274103.1:p.Asp1031Tyr
NM_001351295.2:c.3154G>T	NP_001338224.1:p.Asp1052Tyr
NM_001351296.2:c.3088G>T	NP_001338225.1:p.Asp1030Tyr
NM_001351297.2:c.3085G>T	NP_001338226.1:p.Asp1029Tyr
NR_147094.2:n.3237G>T
NM_001287174.3:c.3091G>T	NP_001274103.1:p.Asp1031Tyr