Canonical Allele Identifier: CA379803397

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428506A>C (hg19) ; chr11:g.17406959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406959A>C , CM000673.2:g.17406959A>C	GRCh38
NC_000011.9:g.17428506A>C , CM000673.1:g.17428506A>C	GRCh37
NC_000011.8:g.17385082A>C	NCBI36
NG_008867.1:g.74944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2660T>G
ENST00000529967.6:n.1430T>G
ENST00000532220.2:n.823T>G
ENST00000642611.2:n.3160T>G
ENST00000645004.2:n.590T>G
ENST00000682051.1:n.3107T>G
ENST00000682110.1:n.3160T>G
ENST00000682140.1:c.3088T>G	ENSP00000507829.1:p.Tyr1030Asp
ENST00000682185.1:n.4396T>G
ENST00000682204.1:c.*1229T>G	ENSP00000507094.1:n.*1229T>G
ENST00000682215.1:n.3157T>G
ENST00000682288.1:c.*1522T>G	ENSP00000507506.1:n.*1522T>G
ENST00000682442.1:n.3281T>G
ENST00000682528.1:n.3237T>G
ENST00000682673.1:n.3104T>G
ENST00000682805.1:n.3157T>G
ENST00000682965.1:c.3088T>G	ENSP00000508229.1:p.Tyr1030Asp
ENST00000683093.1:n.3259T>G
ENST00000683136.1:c.3088T>G	ENSP00000507768.1:p.Tyr1030Asp
ENST00000683153.1:n.3316T>G
ENST00000683365.1:n.3262T>G
ENST00000683377.1:n.3160T>G
ENST00000683456.1:c.*228T>G	ENSP00000508318.1:n.*228T>G
ENST00000683522.1:n.3160T>G
ENST00000683562.1:c.*1260T>G	ENSP00000508265.1:n.*1260T>G
ENST00000683693.1:n.3237T>G
ENST00000683725.1:c.3091T>G	ENSP00000507496.1:p.Tyr1031Asp
ENST00000684010.1:n.3155T>G
ENST00000684157.1:n.3160T>G
ENST00000684253.1:n.3063T>G
ENST00000684288.1:c.*1263T>G	ENSP00000507143.1:n.*1263T>G
ENST00000684313.1:n.2592T>G
ENST00000684332.1:n.3233T>G
ENST00000684371.1:n.3266T>G
ENST00000684404.1:n.3203T>G
ENST00000684442.1:n.3160T>G
ENST00000684555.1:c.*1303T>G	ENSP00000507705.1:n.*1303T>G
ENST00000684571.1:c.2932T>G	ENSP00000506935.1:p.Tyr978Asp
ENST00000684593.1:c.*2796T>G	ENSP00000507005.1:n.*2796T>G
ENST00000684711.1:c.*1487T>G	ENSP00000506841.1:n.*1487T>G
ENST00000302539.9:c.3094T>G	ENSP00000303960.4:p.Tyr1032Asp
ENST00000389817.8:c.3091T>G MANE Select	ENSP00000374467.4:p.Tyr1031Asp
ENST00000642271.1:c.3088T>G	ENSP00000493749.1:p.Tyr1030Asp
ENST00000642579.1:c.1175T>G
ENST00000642611.1:n.3045T>G
ENST00000642902.1:c.2873T>G
ENST00000643260.1:c.3091T>G	ENSP00000494450.1:p.Tyr1031Asp
ENST00000643562.1:c.*1067T>G	ENSP00000496124.1:n.*1067T>G
ENST00000643925.1:c.1215T>G
ENST00000644447.1:c.1447T>G	ENSP00000496282.1:p.Tyr483Asp
ENST00000644484.1:c.*1346T>G	ENSP00000493558.1:n.*1346T>G
ENST00000644542.1:c.*2796T>G	ENSP00000495532.1:n.*2796T>G
ENST00000644675.1:c.*1263T>G	ENSP00000494567.1:n.*1263T>G
ENST00000644757.1:c.*1376T>G	ENSP00000495085.1:n.*1376T>G
ENST00000644772.1:c.3157T>G	ENSP00000494321.1:p.Tyr1053Asp
ENST00000645004.1:n.230T>G
ENST00000645076.1:c.2290T>G
ENST00000645417.1:c.257T>G
ENST00000645744.1:c.*1355T>G	ENSP00000494564.1:n.*1355T>G
ENST00000645760.1:c.3366T>G
ENST00000645884.1:c.*228T>G	ENSP00000495516.1:n.*228T>G
ENST00000646003.1:c.*1047T>G	ENSP00000495259.1:n.*1047T>G
ENST00000646207.1:c.*1558T>G	ENSP00000495025.1:n.*1558T>G
ENST00000646276.1:c.*1364T>G	ENSP00000496070.1:n.*1364T>G
ENST00000646592.1:c.2397T>G
ENST00000646902.1:c.3088T>G	ENSP00000494101.1:p.Tyr1030Asp
ENST00000646993.1:c.*1487T>G	ENSP00000493720.1:n.*1487T>G
ENST00000647013.1:c.3097T>G	ENSP00000496741.1:n.3097T>G
ENST00000647015.1:c.2842T>G	ENSP00000495389.1:p.Tyr948Asp
ENST00000647086.1:c.*2821T>G	ENSP00000493677.1:n.*2821T>G
ENST00000647158.1:c.*1232T>G	ENSP00000495744.1:n.*1232T>G
ENST00000302539.8:c.3094T>G	ENSP00000303960.4:p.Tyr1032Asp
ENST00000389817.7:c.3091T>G	ENSP00000374467.3:p.Tyr1031Asp
ENST00000524561.1:n.223T>G
ENST00000526921.5:n.775T>G
ENST00000527905.5:c.2961T>G	ENSP00000431653.1:p.Thr987=
ENST00000529967.5:n.760T>G
NM_000352.4:c.3091T>G	NP_000343.2:p.Tyr1031Asp
NM_001287174.1:c.3094T>G	NP_001274103.1:p.Tyr1032Asp
XM_011520331.1:c.3091T>G	XP_011518633.1:p.Tyr1031Asp
XM_011520332.1:c.3094T>G	XP_011518634.1:p.Tyr1032Asp
XM_011520333.1:c.1591T>G	XP_011518635.1:p.Tyr531Asp
XR_930890.1:n.3157T>G
XR_930891.1:n.3157T>G
XR_930892.1:n.3057T>G
XR_930893.1:n.3054T>G
NM_001351295.1:c.3157T>G	NP_001338224.1:p.Tyr1053Asp
NM_001351296.1:c.3091T>G	NP_001338225.1:p.Tyr1031Asp
NM_001351297.1:c.3088T>G	NP_001338226.1:p.Tyr1030Asp
NR_147094.1:n.3240T>G
XM_017018197.2:c.3160T>G	XP_016873686.1:p.Tyr1054Asp
XM_017018199.1:c.3157T>G	XP_016873688.1:p.Tyr1053Asp
XM_017018201.2:c.3160T>G	XP_016873690.1:p.Tyr1054Asp
XM_017018202.1:c.1657T>G	XP_016873691.1:p.Tyr553Asp
XM_017018204.1:c.1048T>G	XP_016873693.1:p.Tyr350Asp
XM_024448668.1:c.1459T>G	XP_024304436.1:p.Tyr487Asp
XR_001747945.2:n.3232T>G
XR_001747946.2:n.3163T>G
XR_002957189.1:n.3312T>G
NM_000352.6:c.3091T>G MANE Select	NP_000343.2:p.Tyr1031Asp
NM_001287174.2:c.3094T>G	NP_001274103.1:p.Tyr1032Asp
NM_001351295.2:c.3157T>G	NP_001338224.1:p.Tyr1053Asp
NM_001351296.2:c.3091T>G	NP_001338225.1:p.Tyr1031Asp
NM_001351297.2:c.3088T>G	NP_001338226.1:p.Tyr1030Asp
NR_147094.2:n.3240T>G
NM_001287174.3:c.3094T>G	NP_001274103.1:p.Tyr1032Asp