Canonical Allele Identifier: CA379805891

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410517C>T , CM000673.2:g.17410517C>T	GRCh38
NC_000011.9:g.17432064C>T , CM000673.1:g.17432064C>T	GRCh37
NC_000011.8:g.17388640C>T	NCBI36
NG_008867.1:g.71386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2693G>A MANE Select	NP_000343.2:p.Trp898Ter
ENST00000389817.8:c.2693G>A MANE Select	ENSP00000374467.4:p.Trp898Ter
NM_000352.4:c.2693G>A	NP_000343.2:p.Trp898Ter
NM_001287174.1:c.2696G>A	NP_001274103.1:p.Trp899Ter
NM_001287174.2:c.2696G>A	NP_001274103.1:p.Trp899Ter
NM_001287174.3:c.2696G>A	NP_001274103.1:p.Trp899Ter
NM_001351295.1:c.2759G>A	NP_001338224.1:p.Trp920Ter
NM_001351295.2:c.2759G>A	NP_001338224.1:p.Trp920Ter
NM_001351296.1:c.2693G>A	NP_001338225.1:p.Trp898Ter
NM_001351296.2:c.2693G>A	NP_001338225.1:p.Trp898Ter
NM_001351297.1:c.2690G>A	NP_001338226.1:p.Trp897Ter
NM_001351297.2:c.2690G>A	NP_001338226.1:p.Trp897Ter
NR_147094.1:n.2762G>A
NR_147094.2:n.2762G>A
ENST00000302539.8:c.2696G>A	ENSP00000303960.4:p.Trp899Ter
ENST00000302539.9:c.2696G>A	ENSP00000303960.4:p.Trp899Ter
ENST00000389817.7:c.2693G>A	ENSP00000374467.3:p.Trp898Ter
ENST00000524561.2:n.2362G>A
ENST00000526921.5:n.377G>A
ENST00000527905.5:c.2663G>A	ENSP00000431653.1:p.Trp888Ter
ENST00000529967.5:n.362G>A
ENST00000529967.6:n.952G>A
ENST00000530147.5:n.276G>A
ENST00000642271.1:c.2690G>A	ENSP00000493749.1:p.Trp897Ter
ENST00000642579.1:c.777G>A
ENST00000642611.1:n.2647G>A
ENST00000642611.2:n.2762G>A
ENST00000642902.1:c.2528G>A
ENST00000643260.1:c.2693G>A	ENSP00000494450.1:p.Trp898Ter
ENST00000643562.1:c.*669G>A	ENSP00000496124.1:n.*669G>A
ENST00000643925.1:c.737G>A
ENST00000644447.1:c.1049G>A	ENSP00000496282.1:p.Trp350Ter
ENST00000644472.1:c.*1054G>A	ENSP00000495378.1:n.*1054G>A
ENST00000644484.1:c.*902G>A	ENSP00000493558.1:n.*902G>A
ENST00000644542.1:c.*2398G>A	ENSP00000495532.1:n.*2398G>A
ENST00000644675.1:c.*865G>A	ENSP00000494567.1:n.*865G>A
ENST00000644757.1:c.*998G>A	ENSP00000495085.1:n.*998G>A
ENST00000644772.1:c.2759G>A	ENSP00000494321.1:p.Trp920Ter
ENST00000645076.1:c.1945G>A
ENST00000645744.1:c.*1057G>A	ENSP00000494564.1:n.*1057G>A
ENST00000645760.1:c.2968G>A
ENST00000645884.1:c.2693G>A	ENSP00000495516.1:p.Trp898Ter
ENST00000646003.1:c.*749G>A	ENSP00000495259.1:n.*749G>A
ENST00000646207.1:c.*1057G>A	ENSP00000495025.1:n.*1057G>A
ENST00000646276.1:c.*966G>A	ENSP00000496070.1:n.*966G>A
ENST00000646592.1:c.1919G>A
ENST00000646902.1:c.2690G>A	ENSP00000494101.1:p.Trp897Ter
ENST00000646993.1:c.*1089G>A	ENSP00000493720.1:n.*1089G>A
ENST00000647013.1:c.2699G>A	ENSP00000496741.1:n.2699G>A
ENST00000647015.1:c.2444G>A	ENSP00000495389.1:p.Trp815Ter
ENST00000647086.1:c.*2423G>A	ENSP00000493677.1:n.*2423G>A
ENST00000647158.1:c.*834G>A	ENSP00000495744.1:n.*834G>A
ENST00000682051.1:n.2709G>A
ENST00000682110.1:n.2762G>A
ENST00000682140.1:c.2690G>A	ENSP00000507829.1:p.Trp897Ter
ENST00000682185.1:n.3998G>A
ENST00000682204.1:c.*831G>A	ENSP00000507094.1:n.*831G>A
ENST00000682215.1:n.2759G>A
ENST00000682288.1:c.*1124G>A	ENSP00000507506.1:n.*1124G>A
ENST00000682442.1:n.2883G>A
ENST00000682528.1:n.2759G>A
ENST00000682673.1:n.2706G>A
ENST00000682805.1:n.2759G>A
ENST00000682965.1:c.2690G>A	ENSP00000508229.1:p.Trp897Ter
ENST00000683093.1:n.2861G>A
ENST00000683136.1:c.2690G>A	ENSP00000507768.1:p.Trp897Ter
ENST00000683153.1:n.2918G>A
ENST00000683365.1:n.2864G>A
ENST00000683377.1:n.2762G>A
ENST00000683456.1:c.2693G>A	ENSP00000508318.1:p.Trp898Ter
ENST00000683522.1:n.2762G>A
ENST00000683562.1:c.*862G>A	ENSP00000508265.1:n.*862G>A
ENST00000683693.1:n.2759G>A
ENST00000683725.1:c.2693G>A	ENSP00000507496.1:p.Trp898Ter
ENST00000684010.1:n.2677G>A
ENST00000684157.1:n.2762G>A
ENST00000684253.1:n.2665G>A
ENST00000684288.1:c.*865G>A	ENSP00000507143.1:n.*865G>A
ENST00000684313.1:n.2194G>A
ENST00000684332.1:n.2835G>A
ENST00000684371.1:n.2868G>A
ENST00000684404.1:n.2759G>A
ENST00000684442.1:n.2762G>A
ENST00000684555.1:c.*905G>A	ENSP00000507705.1:n.*905G>A
ENST00000684571.1:c.2534G>A	ENSP00000506935.1:p.Trp845Ter
ENST00000684593.1:c.*2398G>A	ENSP00000507005.1:n.*2398G>A
ENST00000684711.1:c.*1089G>A	ENSP00000506841.1:n.*1089G>A
XM_011520331.1:c.2693G>A	XP_011518633.1:p.Trp898Ter
XM_011520332.1:c.2696G>A	XP_011518634.1:p.Trp899Ter
XM_011520333.1:c.1193G>A	XP_011518635.1:p.Trp398Ter
XM_011520334.1:c.2696G>A	XP_011518636.1:p.Trp899Ter
XM_017018197.2:c.2762G>A	XP_016873686.1:p.Trp921Ter
XM_017018199.1:c.2759G>A	XP_016873688.1:p.Trp920Ter
XM_017018201.2:c.2762G>A	XP_016873690.1:p.Trp921Ter
XM_017018202.1:c.1259G>A	XP_016873691.1:p.Trp420Ter
XM_017018204.1:c.650G>A	XP_016873693.1:p.Trp217Ter
XM_024448668.1:c.1061G>A	XP_024304436.1:p.Trp354Ter
XR_001747945.2:n.2834G>A
XR_001747946.2:n.2765G>A
XR_002957189.1:n.2834G>A
XR_930890.1:n.2759G>A
XR_930891.1:n.2759G>A
XR_930892.1:n.2759G>A
XR_930893.1:n.2756G>A