Canonical Allele Identifier: CA473298557

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418556C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397009C>A , CM000673.2:g.17397009C>A	GRCh38
NC_000011.9:g.17418556C>A , CM000673.1:g.17418556C>A	GRCh37
NC_000011.8:g.17375132C>A	NCBI36
NG_008867.1:g.84894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3627G>T
ENST00000528374.2:c.617G>T
ENST00000529967.6:n.2365G>T
ENST00000532220.2:n.2274G>T
ENST00000642611.2:n.4241G>T
ENST00000644057.2:n.469G>T
ENST00000645004.2:n.1525G>T
ENST00000682051.1:n.4188G>T
ENST00000682110.1:n.4241G>T
ENST00000682140.1:c.3985+184G>T	ENSP00000507829.1:n.3985+184G>T
ENST00000682185.1:n.5331G>T
ENST00000682204.1:c.*2164G>T	ENSP00000507094.1:n.*2164G>T
ENST00000682215.1:n.4608G>T
ENST00000682288.1:c.*2457G>T	ENSP00000507506.1:n.*2457G>T
ENST00000682442.1:n.4461G>T
ENST00000682528.1:n.4318G>T
ENST00000682673.1:n.4185G>T
ENST00000682805.1:n.4608G>T
ENST00000682965.1:c.*448G>T	ENSP00000508229.1:n.*448G>T
ENST00000683093.1:n.4340G>T
ENST00000683136.1:c.3909G>T	ENSP00000507768.1:p.Gly1303=
ENST00000683153.1:n.4283G>T
ENST00000683365.1:n.4343G>T
ENST00000683377.1:n.4241G>T
ENST00000683456.1:c.*1163G>T	ENSP00000508318.1:n.*1163G>T
ENST00000683522.1:n.4241G>T
ENST00000683562.1:c.*2195G>T	ENSP00000508265.1:n.*2195G>T
ENST00000683693.1:n.4688G>T
ENST00000683725.1:c.4026G>T	ENSP00000507496.1:p.Gly1342=
ENST00000684010.1:n.4236G>T
ENST00000684157.1:n.4241G>T
ENST00000684253.1:n.4144G>T
ENST00000684288.1:c.*2198G>T	ENSP00000507143.1:n.*2198G>T
ENST00000684313.1:n.3673G>T
ENST00000684332.1:n.4314G>T
ENST00000684371.1:n.4347G>T
ENST00000684404.1:n.4284G>T
ENST00000684442.1:n.4465G>T
ENST00000684555.1:c.*2238G>T	ENSP00000507705.1:n.*2238G>T
ENST00000684571.1:c.3867G>T	ENSP00000506935.1:p.Gly1289=
ENST00000684593.1:c.*3731G>T	ENSP00000507005.1:n.*3731G>T
ENST00000684711.1:c.*2422G>T	ENSP00000506841.1:n.*2422G>T
ENST00000302539.9:c.4029G>T	ENSP00000303960.4:p.Gly1343=
ENST00000389817.8:c.4026G>T MANE Select	ENSP00000374467.4:p.Gly1342=
ENST00000642271.1:c.4023G>T	ENSP00000493749.1:p.Gly1341=
ENST00000642579.1:c.2080G>T
ENST00000642611.1:n.4126G>T
ENST00000642902.1:c.3808G>T
ENST00000643260.1:c.4026G>T	ENSP00000494450.1:p.Gly1342=
ENST00000643562.1:c.*2148G>T	ENSP00000496124.1:n.*2148G>T
ENST00000643925.1:c.2666G>T
ENST00000644057.1:n.103G>T
ENST00000644484.1:c.*2427G>T	ENSP00000493558.1:n.*2427G>T
ENST00000644675.1:c.*2198G>T	ENSP00000494567.1:n.*2198G>T
ENST00000644757.1:c.*2457G>T	ENSP00000495085.1:n.*2457G>T
ENST00000644772.1:c.4092G>T	ENSP00000494321.1:p.Gly1364=
ENST00000645004.1:n.1681G>T
ENST00000645076.1:c.3225G>T
ENST00000645417.1:c.1214G>T
ENST00000645744.1:c.*2806G>T	ENSP00000494564.1:n.*2806G>T
ENST00000645760.1:c.4447G>T
ENST00000645884.1:c.*1309G>T	ENSP00000495516.1:n.*1309G>T
ENST00000646003.1:c.*2128G>T	ENSP00000495259.1:n.*2128G>T
ENST00000646207.1:c.*2863G>T	ENSP00000495025.1:n.*2863G>T
ENST00000646276.1:c.*2445G>T	ENSP00000496070.1:n.*2445G>T
ENST00000646592.1:c.3332G>T
ENST00000646902.1:c.3993G>T	ENSP00000494101.1:p.Gly1331=
ENST00000646993.1:c.*2568G>T	ENSP00000493720.1:n.*2568G>T
ENST00000647013.1:c.4032G>T	ENSP00000496741.1:n.4032G>T
ENST00000647015.1:c.3777G>T	ENSP00000495389.1:p.Gly1259=
ENST00000647086.1:c.*3612G>T	ENSP00000493677.1:n.*3612G>T
ENST00000647158.1:c.*2313G>T	ENSP00000495744.1:n.*2313G>T
ENST00000302539.8:c.4029G>T	ENSP00000303960.4:p.Gly1343=
ENST00000389817.7:c.4026G>T	ENSP00000374467.3:p.Gly1342=
ENST00000527905.5:c.*1048G>T	ENSP00000431653.1:n.*1048G>T
ENST00000528374.1:c.508G>T
ENST00000531137.1:n.591G>T
ENST00000531891.1:c.364G>T
ENST00000532220.1:n.500G>T
NM_000352.4:c.4026G>T	NP_000343.2:p.Gly1342=
NM_001287174.1:c.4029G>T	NP_001274103.1:p.Gly1343=
XM_011520331.1:c.4026G>T	XP_011518633.1:p.Gly1342=
XM_011520332.1:c.4029G>T	XP_011518634.1:p.Gly1343=
XM_011520333.1:c.2526G>T	XP_011518635.1:p.Gly842=
XR_930890.1:n.4092G>T
NM_001351295.1:c.4092G>T	NP_001338224.1:p.Gly1364=
NM_001351296.1:c.4026G>T	NP_001338225.1:p.Gly1342=
NM_001351297.1:c.4023G>T	NP_001338226.1:p.Gly1341=
NR_147094.1:n.4321G>T
XM_017018197.2:c.4095G>T	XP_016873686.1:p.Gly1365=
XM_017018199.1:c.4092G>T	XP_016873688.1:p.Gly1364=
XM_017018201.2:c.4095G>T	XP_016873690.1:p.Gly1365=
XM_017018202.1:c.2592G>T	XP_016873691.1:p.Gly864=
XM_017018204.1:c.1983G>T	XP_016873693.1:p.Gly661=
XM_024448668.1:c.2394G>T	XP_024304436.1:p.Gly798=
XR_001747945.2:n.4167G>T
XR_001747946.2:n.4098G>T
XR_002957189.1:n.4763G>T
NM_000352.6:c.4026G>T MANE Select	NP_000343.2:p.Gly1342=
NM_001287174.2:c.4029G>T	NP_001274103.1:p.Gly1343=
NM_001351295.2:c.4092G>T	NP_001338224.1:p.Gly1364=
NM_001351296.2:c.4026G>T	NP_001338225.1:p.Gly1342=
NM_001351297.2:c.4023G>T	NP_001338226.1:p.Gly1341=
NR_147094.2:n.4321G>T
NM_001287174.3:c.4029G>T	NP_001274103.1:p.Gly1343=