Canonical Allele Identifier: CA379802949

Gene: ABCC8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2750A>G
ENST00000529967.6:n.1520A>G
ENST00000532220.2:n.913A>G
ENST00000642611.2:n.3250A>G
ENST00000645004.2:n.680A>G
ENST00000682051.1:n.3197A>G
ENST00000682110.1:n.3250A>G
ENST00000682140.1:c.3178A>G	ENSP00000507829.1:p.Thr1060Ala
ENST00000682185.1:n.4486A>G
ENST00000682204.1:c.*1319A>G	ENSP00000507094.1:n.*1319A>G
ENST00000682215.1:n.3247A>G
ENST00000682288.1:c.*1612A>G	ENSP00000507506.1:n.*1612A>G
ENST00000682442.1:n.3470A>G
ENST00000682528.1:n.3327A>G
ENST00000682673.1:n.3194A>G
ENST00000682805.1:n.3247A>G
ENST00000682965.1:c.3178A>G	ENSP00000508229.1:p.Thr1060Ala
ENST00000683093.1:n.3349A>G
ENST00000683136.1:c.3178A>G	ENSP00000507768.1:p.Thr1060Ala
ENST00000683153.1:n.3406A>G
ENST00000683365.1:n.3352A>G
ENST00000683377.1:n.3250A>G
ENST00000683456.1:c.*318A>G	ENSP00000508318.1:n.*318A>G
ENST00000683522.1:n.3250A>G
ENST00000683562.1:c.*1350A>G	ENSP00000508265.1:n.*1350A>G
ENST00000683693.1:n.3327A>G
ENST00000683725.1:c.3181A>G	ENSP00000507496.1:p.Thr1061Ala
ENST00000684010.1:n.3245A>G
ENST00000684157.1:n.3250A>G
ENST00000684253.1:n.3153A>G
ENST00000684288.1:c.*1353A>G	ENSP00000507143.1:n.*1353A>G
ENST00000684313.1:n.2682A>G
ENST00000684332.1:n.3323A>G
ENST00000684371.1:n.3356A>G
ENST00000684404.1:n.3293A>G
ENST00000684442.1:n.3250A>G
ENST00000684555.1:c.*1393A>G	ENSP00000507705.1:n.*1393A>G
ENST00000684571.1:c.3022A>G	ENSP00000506935.1:p.Thr1008Ala
ENST00000684593.1:c.*2886A>G	ENSP00000507005.1:n.*2886A>G
ENST00000684711.1:c.*1577A>G	ENSP00000506841.1:n.*1577A>G
ENST00000302539.9:c.3184A>G	ENSP00000303960.4:p.Thr1062Ala
ENST00000389817.8:c.3181A>G MANE Select	ENSP00000374467.4:p.Thr1061Ala
ENST00000642271.1:c.3178A>G	ENSP00000493749.1:p.Thr1060Ala
ENST00000642579.1:c.1265A>G
ENST00000642611.1:n.3135A>G
ENST00000642902.1:c.2963A>G
ENST00000643260.1:c.3181A>G	ENSP00000494450.1:p.Thr1061Ala
ENST00000643562.1:c.*1157A>G	ENSP00000496124.1:n.*1157A>G
ENST00000643925.1:c.1305A>G
ENST00000644447.1:c.1537A>G	ENSP00000496282.1:p.Thr513Ala
ENST00000644484.1:c.*1436A>G	ENSP00000493558.1:n.*1436A>G
ENST00000644542.1:c.*2985A>G	ENSP00000495532.1:n.*2985A>G
ENST00000644675.1:c.*1353A>G	ENSP00000494567.1:n.*1353A>G
ENST00000644757.1:c.*1466A>G	ENSP00000495085.1:n.*1466A>G
ENST00000644772.1:c.3247A>G	ENSP00000494321.1:p.Thr1083Ala
ENST00000645004.1:n.320A>G
ENST00000645076.1:c.2380A>G
ENST00000645417.1:c.347A>G
ENST00000645744.1:c.*1445A>G	ENSP00000494564.1:n.*1445A>G
ENST00000645760.1:c.3456A>G
ENST00000645884.1:c.*318A>G	ENSP00000495516.1:n.*318A>G
ENST00000646003.1:c.*1137A>G	ENSP00000495259.1:n.*1137A>G
ENST00000646207.1:c.*1648A>G	ENSP00000495025.1:n.*1648A>G
ENST00000646276.1:c.*1454A>G	ENSP00000496070.1:n.*1454A>G
ENST00000646592.1:c.2487A>G
ENST00000646902.1:c.3178A>G	ENSP00000494101.1:p.Thr1060Ala
ENST00000646993.1:c.*1577A>G	ENSP00000493720.1:n.*1577A>G
ENST00000647013.1:c.3187A>G	ENSP00000496741.1:n.3187A>G
ENST00000647015.1:c.2932A>G	ENSP00000495389.1:p.Thr978Ala
ENST00000647086.1:c.*2911A>G	ENSP00000493677.1:n.*2911A>G
ENST00000647158.1:c.*1322A>G	ENSP00000495744.1:n.*1322A>G
ENST00000302539.8:c.3184A>G	ENSP00000303960.4:p.Thr1062Ala
ENST00000389817.7:c.3181A>G	ENSP00000374467.3:p.Thr1061Ala
ENST00000524561.1:n.313A>G
ENST00000526921.5:n.865A>G
ENST00000527905.5:c.*57A>G	ENSP00000431653.1:n.*57A>G
NM_000352.4:c.3181A>G	NP_000343.2:p.Thr1061Ala
NM_001287174.1:c.3184A>G	NP_001274103.1:p.Thr1062Ala
XM_011520331.1:c.3181A>G	XP_011518633.1:p.Thr1061Ala
XM_011520332.1:c.3184A>G	XP_011518634.1:p.Thr1062Ala
XM_011520333.1:c.1681A>G	XP_011518635.1:p.Thr561Ala
XR_930890.1:n.3247A>G
XR_930891.1:n.3247A>G
XR_930892.1:n.3147A>G
XR_930893.1:n.3144A>G
NM_001351295.1:c.3247A>G	NP_001338224.1:p.Thr1083Ala
NM_001351296.1:c.3181A>G	NP_001338225.1:p.Thr1061Ala
NM_001351297.1:c.3178A>G	NP_001338226.1:p.Thr1060Ala
NR_147094.1:n.3330A>G
XM_017018197.2:c.3250A>G	XP_016873686.1:p.Thr1084Ala
XM_017018199.1:c.3247A>G	XP_016873688.1:p.Thr1083Ala
XM_017018201.2:c.3250A>G	XP_016873690.1:p.Thr1084Ala
XM_017018202.1:c.1747A>G	XP_016873691.1:p.Thr583Ala
XM_017018204.1:c.1138A>G	XP_016873693.1:p.Thr380Ala
XM_024448668.1:c.1549A>G	XP_024304436.1:p.Thr517Ala
XR_001747945.2:n.3322A>G
XR_001747946.2:n.3253A>G
XR_002957189.1:n.3402A>G
NM_000352.6:c.3181A>G MANE Select	NP_000343.2:p.Thr1061Ala
NM_001287174.2:c.3184A>G	NP_001274103.1:p.Thr1062Ala
NM_001351295.2:c.3247A>G	NP_001338224.1:p.Thr1083Ala
NM_001351296.2:c.3181A>G	NP_001338225.1:p.Thr1061Ala
NM_001351297.2:c.3178A>G	NP_001338226.1:p.Thr1060Ala
NR_147094.2:n.3330A>G
NM_001287174.3:c.3184A>G	NP_001274103.1:p.Thr1062Ala