Canonical Allele Identifier: CA473515842

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428507G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406960G>A , CM000673.2:g.17406960G>A	GRCh38
NC_000011.9:g.17428507G>A , CM000673.1:g.17428507G>A	GRCh37
NC_000011.8:g.17385083G>A	NCBI36
NG_008867.1:g.74943C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2659C>T
ENST00000529967.6:n.1429C>T
ENST00000532220.2:n.822C>T
ENST00000642611.2:n.3159C>T
ENST00000645004.2:n.589C>T
ENST00000682051.1:n.3106C>T
ENST00000682110.1:n.3159C>T
ENST00000682140.1:c.3087C>T	ENSP00000507829.1:p.Asp1029=
ENST00000682185.1:n.4395C>T
ENST00000682204.1:c.*1228C>T	ENSP00000507094.1:n.*1228C>T
ENST00000682215.1:n.3156C>T
ENST00000682288.1:c.*1521C>T	ENSP00000507506.1:n.*1521C>T
ENST00000682442.1:n.3280C>T
ENST00000682528.1:n.3236C>T
ENST00000682673.1:n.3103C>T
ENST00000682805.1:n.3156C>T
ENST00000682965.1:c.3087C>T	ENSP00000508229.1:p.Asp1029=
ENST00000683093.1:n.3258C>T
ENST00000683136.1:c.3087C>T	ENSP00000507768.1:p.Asp1029=
ENST00000683153.1:n.3315C>T
ENST00000683365.1:n.3261C>T
ENST00000683377.1:n.3159C>T
ENST00000683456.1:c.*227C>T	ENSP00000508318.1:n.*227C>T
ENST00000683522.1:n.3159C>T
ENST00000683562.1:c.*1259C>T	ENSP00000508265.1:n.*1259C>T
ENST00000683693.1:n.3236C>T
ENST00000683725.1:c.3090C>T	ENSP00000507496.1:p.Asp1030=
ENST00000684010.1:n.3154C>T
ENST00000684157.1:n.3159C>T
ENST00000684253.1:n.3062C>T
ENST00000684288.1:c.*1262C>T	ENSP00000507143.1:n.*1262C>T
ENST00000684313.1:n.2591C>T
ENST00000684332.1:n.3232C>T
ENST00000684371.1:n.3265C>T
ENST00000684404.1:n.3202C>T
ENST00000684442.1:n.3159C>T
ENST00000684555.1:c.*1302C>T	ENSP00000507705.1:n.*1302C>T
ENST00000684571.1:c.2931C>T	ENSP00000506935.1:p.Asp977=
ENST00000684593.1:c.*2795C>T	ENSP00000507005.1:n.*2795C>T
ENST00000684711.1:c.*1486C>T	ENSP00000506841.1:n.*1486C>T
ENST00000302539.9:c.3093C>T	ENSP00000303960.4:p.Asp1031=
ENST00000389817.8:c.3090C>T MANE Select	ENSP00000374467.4:p.Asp1030=
ENST00000642271.1:c.3087C>T	ENSP00000493749.1:p.Asp1029=
ENST00000642579.1:c.1174C>T
ENST00000642611.1:n.3044C>T
ENST00000642902.1:c.2872C>T
ENST00000643260.1:c.3090C>T	ENSP00000494450.1:p.Asp1030=
ENST00000643562.1:c.*1066C>T	ENSP00000496124.1:n.*1066C>T
ENST00000643925.1:c.1214C>T
ENST00000644447.1:c.1446C>T	ENSP00000496282.1:p.Asp482=
ENST00000644484.1:c.*1345C>T	ENSP00000493558.1:n.*1345C>T
ENST00000644542.1:c.*2795C>T	ENSP00000495532.1:n.*2795C>T
ENST00000644675.1:c.*1262C>T	ENSP00000494567.1:n.*1262C>T
ENST00000644757.1:c.*1375C>T	ENSP00000495085.1:n.*1375C>T
ENST00000644772.1:c.3156C>T	ENSP00000494321.1:p.Asp1052=
ENST00000645004.1:n.229C>T
ENST00000645076.1:c.2289C>T
ENST00000645417.1:c.256C>T
ENST00000645744.1:c.*1354C>T	ENSP00000494564.1:n.*1354C>T
ENST00000645760.1:c.3365C>T
ENST00000645884.1:c.*227C>T	ENSP00000495516.1:n.*227C>T
ENST00000646003.1:c.*1046C>T	ENSP00000495259.1:n.*1046C>T
ENST00000646207.1:c.*1557C>T	ENSP00000495025.1:n.*1557C>T
ENST00000646276.1:c.*1363C>T	ENSP00000496070.1:n.*1363C>T
ENST00000646592.1:c.2396C>T
ENST00000646902.1:c.3087C>T	ENSP00000494101.1:p.Asp1029=
ENST00000646993.1:c.*1486C>T	ENSP00000493720.1:n.*1486C>T
ENST00000647013.1:c.3096C>T	ENSP00000496741.1:n.3096C>T
ENST00000647015.1:c.2841C>T	ENSP00000495389.1:p.Asp947=
ENST00000647086.1:c.*2820C>T	ENSP00000493677.1:n.*2820C>T
ENST00000647158.1:c.*1231C>T	ENSP00000495744.1:n.*1231C>T
ENST00000302539.8:c.3093C>T	ENSP00000303960.4:p.Asp1031=
ENST00000389817.7:c.3090C>T	ENSP00000374467.3:p.Asp1030=
ENST00000524561.1:n.222C>T
ENST00000526921.5:n.774C>T
ENST00000527905.5:c.2960C>T	ENSP00000431653.1:p.Thr987Ile
ENST00000529967.5:n.759C>T
NM_000352.4:c.3090C>T	NP_000343.2:p.Asp1030=
NM_001287174.1:c.3093C>T	NP_001274103.1:p.Asp1031=
XM_011520331.1:c.3090C>T	XP_011518633.1:p.Asp1030=
XM_011520332.1:c.3093C>T	XP_011518634.1:p.Asp1031=
XM_011520333.1:c.1590C>T	XP_011518635.1:p.Asp530=
XR_930890.1:n.3156C>T
XR_930891.1:n.3156C>T
XR_930892.1:n.3056C>T
XR_930893.1:n.3053C>T
NM_001351295.1:c.3156C>T	NP_001338224.1:p.Asp1052=
NM_001351296.1:c.3090C>T	NP_001338225.1:p.Asp1030=
NM_001351297.1:c.3087C>T	NP_001338226.1:p.Asp1029=
NR_147094.1:n.3239C>T
XM_017018197.2:c.3159C>T	XP_016873686.1:p.Asp1053=
XM_017018199.1:c.3156C>T	XP_016873688.1:p.Asp1052=
XM_017018201.2:c.3159C>T	XP_016873690.1:p.Asp1053=
XM_017018202.1:c.1656C>T	XP_016873691.1:p.Asp552=
XM_017018204.1:c.1047C>T	XP_016873693.1:p.Asp349=
XM_024448668.1:c.1458C>T	XP_024304436.1:p.Asp486=
XR_001747945.2:n.3231C>T
XR_001747946.2:n.3162C>T
XR_002957189.1:n.3311C>T
NM_000352.6:c.3090C>T MANE Select	NP_000343.2:p.Asp1030=
NM_001287174.2:c.3093C>T	NP_001274103.1:p.Asp1031=
NM_001351295.2:c.3156C>T	NP_001338224.1:p.Asp1052=
NM_001351296.2:c.3090C>T	NP_001338225.1:p.Asp1030=
NM_001351297.2:c.3087C>T	NP_001338226.1:p.Asp1029=
NR_147094.2:n.3239C>T
NM_001287174.3:c.3093C>T	NP_001274103.1:p.Asp1031=