Canonical Allele Identifier: CA379803674

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428539G>T (hg19) ; chr11:g.17406992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406992G>T , CM000673.2:g.17406992G>T	GRCh38
NC_000011.9:g.17428539G>T , CM000673.1:g.17428539G>T	GRCh37
NC_000011.8:g.17385115G>T	NCBI36
NG_008867.1:g.74911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2627C>A
ENST00000529967.6:n.1397C>A
ENST00000532220.2:n.790C>A
ENST00000642611.2:n.3127C>A
ENST00000645004.2:n.557C>A
ENST00000682051.1:n.3074C>A
ENST00000682110.1:n.3127C>A
ENST00000682140.1:c.3055C>A	ENSP00000507829.1:p.Leu1019Met
ENST00000682185.1:n.4363C>A
ENST00000682204.1:c.*1196C>A	ENSP00000507094.1:n.*1196C>A
ENST00000682215.1:n.3124C>A
ENST00000682288.1:c.*1489C>A	ENSP00000507506.1:n.*1489C>A
ENST00000682442.1:n.3248C>A
ENST00000682528.1:n.3204C>A
ENST00000682673.1:n.3071C>A
ENST00000682805.1:n.3124C>A
ENST00000682965.1:c.3055C>A	ENSP00000508229.1:p.Leu1019Met
ENST00000683093.1:n.3226C>A
ENST00000683136.1:c.3055C>A	ENSP00000507768.1:p.Leu1019Met
ENST00000683153.1:n.3283C>A
ENST00000683365.1:n.3229C>A
ENST00000683377.1:n.3127C>A
ENST00000683456.1:c.*195C>A	ENSP00000508318.1:n.*195C>A
ENST00000683522.1:n.3127C>A
ENST00000683562.1:c.*1227C>A	ENSP00000508265.1:n.*1227C>A
ENST00000683693.1:n.3204C>A
ENST00000683725.1:c.3058C>A	ENSP00000507496.1:p.Leu1020Met
ENST00000684010.1:n.3122C>A
ENST00000684157.1:n.3127C>A
ENST00000684253.1:n.3030C>A
ENST00000684288.1:c.*1230C>A	ENSP00000507143.1:n.*1230C>A
ENST00000684313.1:n.2559C>A
ENST00000684332.1:n.3200C>A
ENST00000684371.1:n.3233C>A
ENST00000684404.1:n.3170C>A
ENST00000684442.1:n.3127C>A
ENST00000684555.1:c.*1270C>A	ENSP00000507705.1:n.*1270C>A
ENST00000684571.1:c.2899C>A	ENSP00000506935.1:p.Leu967Met
ENST00000684593.1:c.*2763C>A	ENSP00000507005.1:n.*2763C>A
ENST00000684711.1:c.*1454C>A	ENSP00000506841.1:n.*1454C>A
ENST00000302539.9:c.3061C>A	ENSP00000303960.4:p.Leu1021Met
ENST00000389817.8:c.3058C>A MANE Select	ENSP00000374467.4:p.Leu1020Met
ENST00000642271.1:c.3055C>A	ENSP00000493749.1:p.Leu1019Met
ENST00000642579.1:c.1142C>A
ENST00000642611.1:n.3012C>A
ENST00000642902.1:c.2840C>A
ENST00000643260.1:c.3058C>A	ENSP00000494450.1:p.Leu1020Met
ENST00000643562.1:c.*1034C>A	ENSP00000496124.1:n.*1034C>A
ENST00000643925.1:c.1182C>A
ENST00000644447.1:c.1414C>A	ENSP00000496282.1:p.Leu472Met
ENST00000644484.1:c.*1313C>A	ENSP00000493558.1:n.*1313C>A
ENST00000644542.1:c.*2763C>A	ENSP00000495532.1:n.*2763C>A
ENST00000644675.1:c.*1230C>A	ENSP00000494567.1:n.*1230C>A
ENST00000644757.1:c.*1343C>A	ENSP00000495085.1:n.*1343C>A
ENST00000644772.1:c.3124C>A	ENSP00000494321.1:p.Leu1042Met
ENST00000645004.1:n.197C>A
ENST00000645076.1:c.2257C>A
ENST00000645417.1:c.224C>A
ENST00000645744.1:c.*1322C>A	ENSP00000494564.1:n.*1322C>A
ENST00000645760.1:c.3333C>A
ENST00000645884.1:c.*195C>A	ENSP00000495516.1:n.*195C>A
ENST00000646003.1:c.*1014C>A	ENSP00000495259.1:n.*1014C>A
ENST00000646207.1:c.*1525C>A	ENSP00000495025.1:n.*1525C>A
ENST00000646276.1:c.*1331C>A	ENSP00000496070.1:n.*1331C>A
ENST00000646592.1:c.2364C>A
ENST00000646902.1:c.3055C>A	ENSP00000494101.1:p.Leu1019Met
ENST00000646993.1:c.*1454C>A	ENSP00000493720.1:n.*1454C>A
ENST00000647013.1:c.3064C>A	ENSP00000496741.1:n.3064C>A
ENST00000647015.1:c.2809C>A	ENSP00000495389.1:p.Leu937Met
ENST00000647086.1:c.*2788C>A	ENSP00000493677.1:n.*2788C>A
ENST00000647158.1:c.*1199C>A	ENSP00000495744.1:n.*1199C>A
ENST00000302539.8:c.3061C>A	ENSP00000303960.4:p.Leu1021Met
ENST00000389817.7:c.3058C>A	ENSP00000374467.3:p.Leu1020Met
ENST00000524561.1:n.190C>A
ENST00000526921.5:n.742C>A
ENST00000527905.5:c.2928C>A	ENSP00000431653.1:p.Ser976Arg
ENST00000529967.5:n.727C>A
NM_000352.4:c.3058C>A	NP_000343.2:p.Leu1020Met
NM_001287174.1:c.3061C>A	NP_001274103.1:p.Leu1021Met
XM_011520331.1:c.3058C>A	XP_011518633.1:p.Leu1020Met
XM_011520332.1:c.3061C>A	XP_011518634.1:p.Leu1021Met
XM_011520333.1:c.1558C>A	XP_011518635.1:p.Leu520Met
XR_930890.1:n.3124C>A
XR_930891.1:n.3124C>A
XR_930892.1:n.3024C>A
XR_930893.1:n.3021C>A
NM_001351295.1:c.3124C>A	NP_001338224.1:p.Leu1042Met
NM_001351296.1:c.3058C>A	NP_001338225.1:p.Leu1020Met
NM_001351297.1:c.3055C>A	NP_001338226.1:p.Leu1019Met
NR_147094.1:n.3207C>A
XM_017018197.2:c.3127C>A	XP_016873686.1:p.Leu1043Met
XM_017018199.1:c.3124C>A	XP_016873688.1:p.Leu1042Met
XM_017018201.2:c.3127C>A	XP_016873690.1:p.Leu1043Met
XM_017018202.1:c.1624C>A	XP_016873691.1:p.Leu542Met
XM_017018204.1:c.1015C>A	XP_016873693.1:p.Leu339Met
XM_024448668.1:c.1426C>A	XP_024304436.1:p.Leu476Met
XR_001747945.2:n.3199C>A
XR_001747946.2:n.3130C>A
XR_002957189.1:n.3279C>A
NM_000352.6:c.3058C>A MANE Select	NP_000343.2:p.Leu1020Met
NM_001287174.2:c.3061C>A	NP_001274103.1:p.Leu1021Met
NM_001351295.2:c.3124C>A	NP_001338224.1:p.Leu1042Met
NM_001351296.2:c.3058C>A	NP_001338225.1:p.Leu1020Met
NM_001351297.2:c.3055C>A	NP_001338226.1:p.Leu1019Met
NR_147094.2:n.3207C>A
NM_001287174.3:c.3061C>A	NP_001274103.1:p.Leu1021Met