Canonical Allele Identifier: CA379801757

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428241T>G (hg19) ; chr11:g.17406694T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406694T>G , CM000673.2:g.17406694T>G	GRCh38
NC_000011.9:g.17428241T>G , CM000673.1:g.17428241T>G	GRCh37
NC_000011.8:g.17384817T>G	NCBI36
NG_008867.1:g.75209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2826A>C
ENST00000529967.6:n.1596A>C
ENST00000532220.2:n.989A>C
ENST00000642611.2:n.3326A>C
ENST00000645004.2:n.756A>C
ENST00000682051.1:n.3273A>C
ENST00000682110.1:n.3326A>C
ENST00000682140.1:c.3254A>C	ENSP00000507829.1:p.Glu1085Ala
ENST00000682185.1:n.4562A>C
ENST00000682204.1:c.*1395A>C	ENSP00000507094.1:n.*1395A>C
ENST00000682215.1:n.3323A>C
ENST00000682288.1:c.*1688A>C	ENSP00000507506.1:n.*1688A>C
ENST00000682442.1:n.3546A>C
ENST00000682528.1:n.3403A>C
ENST00000682673.1:n.3270A>C
ENST00000682805.1:n.3323A>C
ENST00000682965.1:c.3254A>C	ENSP00000508229.1:p.Glu1085Ala
ENST00000683093.1:n.3425A>C
ENST00000683136.1:c.3254A>C	ENSP00000507768.1:p.Glu1085Ala
ENST00000683153.1:n.3482A>C
ENST00000683365.1:n.3428A>C
ENST00000683377.1:n.3326A>C
ENST00000683456.1:c.*394A>C	ENSP00000508318.1:n.*394A>C
ENST00000683522.1:n.3326A>C
ENST00000683562.1:c.*1426A>C	ENSP00000508265.1:n.*1426A>C
ENST00000683693.1:n.3403A>C
ENST00000683725.1:c.3257A>C	ENSP00000507496.1:p.Glu1086Ala
ENST00000684010.1:n.3321A>C
ENST00000684157.1:n.3326A>C
ENST00000684253.1:n.3229A>C
ENST00000684288.1:c.*1429A>C	ENSP00000507143.1:n.*1429A>C
ENST00000684313.1:n.2758A>C
ENST00000684332.1:n.3399A>C
ENST00000684371.1:n.3432A>C
ENST00000684404.1:n.3369A>C
ENST00000684442.1:n.3326A>C
ENST00000684555.1:c.*1469A>C	ENSP00000507705.1:n.*1469A>C
ENST00000684571.1:c.3098A>C	ENSP00000506935.1:p.Glu1033Ala
ENST00000684593.1:c.*2962A>C	ENSP00000507005.1:n.*2962A>C
ENST00000684711.1:c.*1653A>C	ENSP00000506841.1:n.*1653A>C
ENST00000302539.9:c.3260A>C	ENSP00000303960.4:p.Glu1087Ala
ENST00000389817.8:c.3257A>C MANE Select	ENSP00000374467.4:p.Glu1086Ala
ENST00000642271.1:c.3254A>C	ENSP00000493749.1:p.Glu1085Ala
ENST00000642579.1:c.1341A>C
ENST00000642611.1:n.3211A>C
ENST00000642902.1:c.3039A>C
ENST00000643260.1:c.3257A>C	ENSP00000494450.1:p.Glu1086Ala
ENST00000643562.1:c.*1233A>C	ENSP00000496124.1:n.*1233A>C
ENST00000643925.1:c.1381A>C
ENST00000644447.1:c.1613A>C	ENSP00000496282.1:p.Glu538Ala
ENST00000644484.1:c.*1512A>C	ENSP00000493558.1:n.*1512A>C
ENST00000644542.1:c.*3061A>C	ENSP00000495532.1:n.*3061A>C
ENST00000644675.1:c.*1429A>C	ENSP00000494567.1:n.*1429A>C
ENST00000644757.1:c.*1542A>C	ENSP00000495085.1:n.*1542A>C
ENST00000644772.1:c.3323A>C	ENSP00000494321.1:p.Glu1108Ala
ENST00000645004.1:n.396A>C
ENST00000645076.1:c.2456A>C
ENST00000645417.1:c.423A>C
ENST00000645744.1:c.*1521A>C	ENSP00000494564.1:n.*1521A>C
ENST00000645760.1:c.3532A>C
ENST00000645884.1:c.*394A>C	ENSP00000495516.1:n.*394A>C
ENST00000646003.1:c.*1213A>C	ENSP00000495259.1:n.*1213A>C
ENST00000646207.1:c.*1724A>C	ENSP00000495025.1:n.*1724A>C
ENST00000646276.1:c.*1530A>C	ENSP00000496070.1:n.*1530A>C
ENST00000646592.1:c.2563A>C
ENST00000646902.1:c.3254A>C	ENSP00000494101.1:p.Glu1085Ala
ENST00000646993.1:c.*1653A>C	ENSP00000493720.1:n.*1653A>C
ENST00000647013.1:c.3263A>C	ENSP00000496741.1:n.3263A>C
ENST00000647015.1:c.3008A>C	ENSP00000495389.1:p.Glu1003Ala
ENST00000647086.1:c.*2987A>C	ENSP00000493677.1:n.*2987A>C
ENST00000647158.1:c.*1398A>C	ENSP00000495744.1:n.*1398A>C
ENST00000302539.8:c.3260A>C	ENSP00000303960.4:p.Glu1087Ala
ENST00000389817.7:c.3257A>C	ENSP00000374467.3:p.Glu1086Ala
ENST00000524561.1:n.389A>C
ENST00000526921.5:n.941A>C
ENST00000527905.5:c.*133A>C	ENSP00000431653.1:n.*133A>C
NM_000352.4:c.3257A>C	NP_000343.2:p.Glu1086Ala
NM_001287174.1:c.3260A>C	NP_001274103.1:p.Glu1087Ala
XM_011520331.1:c.3257A>C	XP_011518633.1:p.Glu1086Ala
XM_011520332.1:c.3260A>C	XP_011518634.1:p.Glu1087Ala
XM_011520333.1:c.1757A>C	XP_011518635.1:p.Glu586Ala
XR_930890.1:n.3323A>C
XR_930891.1:n.3323A>C
XR_930892.1:n.3223A>C
XR_930893.1:n.3220A>C
NM_001351295.1:c.3323A>C	NP_001338224.1:p.Glu1108Ala
NM_001351296.1:c.3257A>C	NP_001338225.1:p.Glu1086Ala
NM_001351297.1:c.3254A>C	NP_001338226.1:p.Glu1085Ala
NR_147094.1:n.3406A>C
XM_017018197.2:c.3326A>C	XP_016873686.1:p.Glu1109Ala
XM_017018199.1:c.3323A>C	XP_016873688.1:p.Glu1108Ala
XM_017018201.2:c.3326A>C	XP_016873690.1:p.Glu1109Ala
XM_017018202.1:c.1823A>C	XP_016873691.1:p.Glu608Ala
XM_017018204.1:c.1214A>C	XP_016873693.1:p.Glu405Ala
XM_024448668.1:c.1625A>C	XP_024304436.1:p.Glu542Ala
XR_001747945.2:n.3398A>C
XR_001747946.2:n.3329A>C
XR_002957189.1:n.3478A>C
NM_000352.6:c.3257A>C MANE Select	NP_000343.2:p.Glu1086Ala
NM_001287174.2:c.3260A>C	NP_001274103.1:p.Glu1087Ala
NM_001351295.2:c.3323A>C	NP_001338224.1:p.Glu1108Ala
NM_001351296.2:c.3257A>C	NP_001338225.1:p.Glu1086Ala
NM_001351297.2:c.3254A>C	NP_001338226.1:p.Glu1085Ala
NR_147094.2:n.3406A>C
NM_001287174.3:c.3260A>C	NP_001274103.1:p.Glu1087Ala