Canonical Allele Identifier: CA473516124

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428465G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406918G>T , CM000673.2:g.17406918G>T	GRCh38
NC_000011.9:g.17428465G>T , CM000673.1:g.17428465G>T	GRCh37
NC_000011.8:g.17385041G>T	NCBI36
NG_008867.1:g.74985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2701C>A
ENST00000529967.6:n.1471C>A
ENST00000532220.2:n.864C>A
ENST00000642611.2:n.3201C>A
ENST00000645004.2:n.631C>A
ENST00000682051.1:n.3148C>A
ENST00000682110.1:n.3201C>A
ENST00000682140.1:c.3129C>A	ENSP00000507829.1:p.Thr1043=
ENST00000682185.1:n.4437C>A
ENST00000682204.1:c.*1270C>A	ENSP00000507094.1:n.*1270C>A
ENST00000682215.1:n.3198C>A
ENST00000682288.1:c.*1563C>A	ENSP00000507506.1:n.*1563C>A
ENST00000682442.1:n.3322C>A
ENST00000682528.1:n.3278C>A
ENST00000682673.1:n.3145C>A
ENST00000682805.1:n.3198C>A
ENST00000682965.1:c.3129C>A	ENSP00000508229.1:p.Thr1043=
ENST00000683093.1:n.3300C>A
ENST00000683136.1:c.3129C>A	ENSP00000507768.1:p.Thr1043=
ENST00000683153.1:n.3357C>A
ENST00000683365.1:n.3303C>A
ENST00000683377.1:n.3201C>A
ENST00000683456.1:c.*269C>A	ENSP00000508318.1:n.*269C>A
ENST00000683522.1:n.3201C>A
ENST00000683562.1:c.*1301C>A	ENSP00000508265.1:n.*1301C>A
ENST00000683693.1:n.3278C>A
ENST00000683725.1:c.3132C>A	ENSP00000507496.1:p.Thr1044=
ENST00000684010.1:n.3196C>A
ENST00000684157.1:n.3201C>A
ENST00000684253.1:n.3104C>A
ENST00000684288.1:c.*1304C>A	ENSP00000507143.1:n.*1304C>A
ENST00000684313.1:n.2633C>A
ENST00000684332.1:n.3274C>A
ENST00000684371.1:n.3307C>A
ENST00000684404.1:n.3244C>A
ENST00000684442.1:n.3201C>A
ENST00000684555.1:c.*1344C>A	ENSP00000507705.1:n.*1344C>A
ENST00000684571.1:c.2973C>A	ENSP00000506935.1:p.Thr991=
ENST00000684593.1:c.*2837C>A	ENSP00000507005.1:n.*2837C>A
ENST00000684711.1:c.*1528C>A	ENSP00000506841.1:n.*1528C>A
ENST00000302539.9:c.3135C>A	ENSP00000303960.4:p.Thr1045=
ENST00000389817.8:c.3132C>A MANE Select	ENSP00000374467.4:p.Thr1044=
ENST00000642271.1:c.3129C>A	ENSP00000493749.1:p.Thr1043=
ENST00000642579.1:c.1216C>A
ENST00000642611.1:n.3086C>A
ENST00000642902.1:c.2914C>A
ENST00000643260.1:c.3132C>A	ENSP00000494450.1:p.Thr1044=
ENST00000643562.1:c.*1108C>A	ENSP00000496124.1:n.*1108C>A
ENST00000643925.1:c.1256C>A
ENST00000644447.1:c.1488C>A	ENSP00000496282.1:p.Thr496=
ENST00000644484.1:c.*1387C>A	ENSP00000493558.1:n.*1387C>A
ENST00000644542.1:c.*2837C>A	ENSP00000495532.1:n.*2837C>A
ENST00000644675.1:c.*1304C>A	ENSP00000494567.1:n.*1304C>A
ENST00000644757.1:c.*1417C>A	ENSP00000495085.1:n.*1417C>A
ENST00000644772.1:c.3198C>A	ENSP00000494321.1:p.Thr1066=
ENST00000645004.1:n.271C>A
ENST00000645076.1:c.2331C>A
ENST00000645417.1:c.298C>A
ENST00000645744.1:c.*1396C>A	ENSP00000494564.1:n.*1396C>A
ENST00000645760.1:c.3407C>A
ENST00000645884.1:c.*269C>A	ENSP00000495516.1:n.*269C>A
ENST00000646003.1:c.*1088C>A	ENSP00000495259.1:n.*1088C>A
ENST00000646207.1:c.*1599C>A	ENSP00000495025.1:n.*1599C>A
ENST00000646276.1:c.*1405C>A	ENSP00000496070.1:n.*1405C>A
ENST00000646592.1:c.2438C>A
ENST00000646902.1:c.3129C>A	ENSP00000494101.1:p.Thr1043=
ENST00000646993.1:c.*1528C>A	ENSP00000493720.1:n.*1528C>A
ENST00000647013.1:c.3138C>A	ENSP00000496741.1:n.3138C>A
ENST00000647015.1:c.2883C>A	ENSP00000495389.1:p.Thr961=
ENST00000647086.1:c.*2862C>A	ENSP00000493677.1:n.*2862C>A
ENST00000647158.1:c.*1273C>A	ENSP00000495744.1:n.*1273C>A
ENST00000302539.8:c.3135C>A	ENSP00000303960.4:p.Thr1045=
ENST00000389817.7:c.3132C>A	ENSP00000374467.3:p.Thr1044=
ENST00000524561.1:n.264C>A
ENST00000526921.5:n.816C>A
ENST00000527905.5:c.*8C>A	ENSP00000431653.1:n.*8C>A
ENST00000529967.5:n.801C>A
NM_000352.4:c.3132C>A	NP_000343.2:p.Thr1044=
NM_001287174.1:c.3135C>A	NP_001274103.1:p.Thr1045=
XM_011520331.1:c.3132C>A	XP_011518633.1:p.Thr1044=
XM_011520332.1:c.3135C>A	XP_011518634.1:p.Thr1045=
XM_011520333.1:c.1632C>A	XP_011518635.1:p.Thr544=
XR_930890.1:n.3198C>A
XR_930891.1:n.3198C>A
XR_930892.1:n.3098C>A
XR_930893.1:n.3095C>A
NM_001351295.1:c.3198C>A	NP_001338224.1:p.Thr1066=
NM_001351296.1:c.3132C>A	NP_001338225.1:p.Thr1044=
NM_001351297.1:c.3129C>A	NP_001338226.1:p.Thr1043=
NR_147094.1:n.3281C>A
XM_017018197.2:c.3201C>A	XP_016873686.1:p.Thr1067=
XM_017018199.1:c.3198C>A	XP_016873688.1:p.Thr1066=
XM_017018201.2:c.3201C>A	XP_016873690.1:p.Thr1067=
XM_017018202.1:c.1698C>A	XP_016873691.1:p.Thr566=
XM_017018204.1:c.1089C>A	XP_016873693.1:p.Thr363=
XM_024448668.1:c.1500C>A	XP_024304436.1:p.Thr500=
XR_001747945.2:n.3273C>A
XR_001747946.2:n.3204C>A
XR_002957189.1:n.3353C>A
NM_000352.6:c.3132C>A MANE Select	NP_000343.2:p.Thr1044=
NM_001287174.2:c.3135C>A	NP_001274103.1:p.Thr1045=
NM_001351295.2:c.3198C>A	NP_001338224.1:p.Thr1066=
NM_001351296.2:c.3132C>A	NP_001338225.1:p.Thr1044=
NM_001351297.2:c.3129C>A	NP_001338226.1:p.Thr1043=
NR_147094.2:n.3281C>A
NM_001287174.3:c.3135C>A	NP_001274103.1:p.Thr1045=