Canonical Allele Identifier: CA379802947

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428317T>G (hg19) ; chr11:g.17406770T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406770T>G , CM000673.2:g.17406770T>G	GRCh38
NC_000011.9:g.17428317T>G , CM000673.1:g.17428317T>G	GRCh37
NC_000011.8:g.17384893T>G	NCBI36
NG_008867.1:g.75133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2750A>C
ENST00000529967.6:n.1520A>C
ENST00000532220.2:n.913A>C
ENST00000642611.2:n.3250A>C
ENST00000645004.2:n.680A>C
ENST00000682051.1:n.3197A>C
ENST00000682110.1:n.3250A>C
ENST00000682140.1:c.3178A>C	ENSP00000507829.1:p.Thr1060Pro
ENST00000682185.1:n.4486A>C
ENST00000682204.1:c.*1319A>C	ENSP00000507094.1:n.*1319A>C
ENST00000682215.1:n.3247A>C
ENST00000682288.1:c.*1612A>C	ENSP00000507506.1:n.*1612A>C
ENST00000682442.1:n.3470A>C
ENST00000682528.1:n.3327A>C
ENST00000682673.1:n.3194A>C
ENST00000682805.1:n.3247A>C
ENST00000682965.1:c.3178A>C	ENSP00000508229.1:p.Thr1060Pro
ENST00000683093.1:n.3349A>C
ENST00000683136.1:c.3178A>C	ENSP00000507768.1:p.Thr1060Pro
ENST00000683153.1:n.3406A>C
ENST00000683365.1:n.3352A>C
ENST00000683377.1:n.3250A>C
ENST00000683456.1:c.*318A>C	ENSP00000508318.1:n.*318A>C
ENST00000683522.1:n.3250A>C
ENST00000683562.1:c.*1350A>C	ENSP00000508265.1:n.*1350A>C
ENST00000683693.1:n.3327A>C
ENST00000683725.1:c.3181A>C	ENSP00000507496.1:p.Thr1061Pro
ENST00000684010.1:n.3245A>C
ENST00000684157.1:n.3250A>C
ENST00000684253.1:n.3153A>C
ENST00000684288.1:c.*1353A>C	ENSP00000507143.1:n.*1353A>C
ENST00000684313.1:n.2682A>C
ENST00000684332.1:n.3323A>C
ENST00000684371.1:n.3356A>C
ENST00000684404.1:n.3293A>C
ENST00000684442.1:n.3250A>C
ENST00000684555.1:c.*1393A>C	ENSP00000507705.1:n.*1393A>C
ENST00000684571.1:c.3022A>C	ENSP00000506935.1:p.Thr1008Pro
ENST00000684593.1:c.*2886A>C	ENSP00000507005.1:n.*2886A>C
ENST00000684711.1:c.*1577A>C	ENSP00000506841.1:n.*1577A>C
ENST00000302539.9:c.3184A>C	ENSP00000303960.4:p.Thr1062Pro
ENST00000389817.8:c.3181A>C MANE Select	ENSP00000374467.4:p.Thr1061Pro
ENST00000642271.1:c.3178A>C	ENSP00000493749.1:p.Thr1060Pro
ENST00000642579.1:c.1265A>C
ENST00000642611.1:n.3135A>C
ENST00000642902.1:c.2963A>C
ENST00000643260.1:c.3181A>C	ENSP00000494450.1:p.Thr1061Pro
ENST00000643562.1:c.*1157A>C	ENSP00000496124.1:n.*1157A>C
ENST00000643925.1:c.1305A>C
ENST00000644447.1:c.1537A>C	ENSP00000496282.1:p.Thr513Pro
ENST00000644484.1:c.*1436A>C	ENSP00000493558.1:n.*1436A>C
ENST00000644542.1:c.*2985A>C	ENSP00000495532.1:n.*2985A>C
ENST00000644675.1:c.*1353A>C	ENSP00000494567.1:n.*1353A>C
ENST00000644757.1:c.*1466A>C	ENSP00000495085.1:n.*1466A>C
ENST00000644772.1:c.3247A>C	ENSP00000494321.1:p.Thr1083Pro
ENST00000645004.1:n.320A>C
ENST00000645076.1:c.2380A>C
ENST00000645417.1:c.347A>C
ENST00000645744.1:c.*1445A>C	ENSP00000494564.1:n.*1445A>C
ENST00000645760.1:c.3456A>C
ENST00000645884.1:c.*318A>C	ENSP00000495516.1:n.*318A>C
ENST00000646003.1:c.*1137A>C	ENSP00000495259.1:n.*1137A>C
ENST00000646207.1:c.*1648A>C	ENSP00000495025.1:n.*1648A>C
ENST00000646276.1:c.*1454A>C	ENSP00000496070.1:n.*1454A>C
ENST00000646592.1:c.2487A>C
ENST00000646902.1:c.3178A>C	ENSP00000494101.1:p.Thr1060Pro
ENST00000646993.1:c.*1577A>C	ENSP00000493720.1:n.*1577A>C
ENST00000647013.1:c.3187A>C	ENSP00000496741.1:n.3187A>C
ENST00000647015.1:c.2932A>C	ENSP00000495389.1:p.Thr978Pro
ENST00000647086.1:c.*2911A>C	ENSP00000493677.1:n.*2911A>C
ENST00000647158.1:c.*1322A>C	ENSP00000495744.1:n.*1322A>C
ENST00000302539.8:c.3184A>C	ENSP00000303960.4:p.Thr1062Pro
ENST00000389817.7:c.3181A>C	ENSP00000374467.3:p.Thr1061Pro
ENST00000524561.1:n.313A>C
ENST00000526921.5:n.865A>C
ENST00000527905.5:c.*57A>C	ENSP00000431653.1:n.*57A>C
NM_000352.4:c.3181A>C	NP_000343.2:p.Thr1061Pro
NM_001287174.1:c.3184A>C	NP_001274103.1:p.Thr1062Pro
XM_011520331.1:c.3181A>C	XP_011518633.1:p.Thr1061Pro
XM_011520332.1:c.3184A>C	XP_011518634.1:p.Thr1062Pro
XM_011520333.1:c.1681A>C	XP_011518635.1:p.Thr561Pro
XR_930890.1:n.3247A>C
XR_930891.1:n.3247A>C
XR_930892.1:n.3147A>C
XR_930893.1:n.3144A>C
NM_001351295.1:c.3247A>C	NP_001338224.1:p.Thr1083Pro
NM_001351296.1:c.3181A>C	NP_001338225.1:p.Thr1061Pro
NM_001351297.1:c.3178A>C	NP_001338226.1:p.Thr1060Pro
NR_147094.1:n.3330A>C
XM_017018197.2:c.3250A>C	XP_016873686.1:p.Thr1084Pro
XM_017018199.1:c.3247A>C	XP_016873688.1:p.Thr1083Pro
XM_017018201.2:c.3250A>C	XP_016873690.1:p.Thr1084Pro
XM_017018202.1:c.1747A>C	XP_016873691.1:p.Thr583Pro
XM_017018204.1:c.1138A>C	XP_016873693.1:p.Thr380Pro
XM_024448668.1:c.1549A>C	XP_024304436.1:p.Thr517Pro
XR_001747945.2:n.3322A>C
XR_001747946.2:n.3253A>C
XR_002957189.1:n.3402A>C
NM_000352.6:c.3181A>C MANE Select	NP_000343.2:p.Thr1061Pro
NM_001287174.2:c.3184A>C	NP_001274103.1:p.Thr1062Pro
NM_001351295.2:c.3247A>C	NP_001338224.1:p.Thr1083Pro
NM_001351296.2:c.3181A>C	NP_001338225.1:p.Thr1061Pro
NM_001351297.2:c.3178A>C	NP_001338226.1:p.Thr1060Pro
NR_147094.2:n.3330A>C
NM_001287174.3:c.3184A>C	NP_001274103.1:p.Thr1062Pro