Canonical Allele Identifier: CA379807485

Gene: ABCC8

Linked Data

• COSMIC: COSM4780475
• MyVariant Identifiers: chr11:g.17434251C>T (hg19) ; chr11:g.17412704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412704C>T , CM000673.2:g.17412704C>T	GRCh38
NC_000011.9:g.17434251C>T , CM000673.1:g.17434251C>T	GRCh37
NC_000011.8:g.17390827C>T	NCBI36
NG_008867.1:g.69199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2187G>A
ENST00000529967.6:n.777G>A
ENST00000642611.2:n.2587G>A
ENST00000682051.1:n.2534G>A
ENST00000682110.1:n.2587G>A
ENST00000682140.1:c.2515G>A	ENSP00000507829.1:p.Ala839Thr
ENST00000682185.1:n.3823G>A
ENST00000682204.1:c.*656G>A	ENSP00000507094.1:n.*656G>A
ENST00000682215.1:n.2584G>A
ENST00000682288.1:c.*949G>A	ENSP00000507506.1:n.*949G>A
ENST00000682442.1:n.2708G>A
ENST00000682528.1:n.2584G>A
ENST00000682673.1:n.2531G>A
ENST00000682805.1:n.2584G>A
ENST00000682965.1:c.2515G>A	ENSP00000508229.1:p.Ala839Thr
ENST00000683093.1:n.2686G>A
ENST00000683136.1:c.2515G>A	ENSP00000507768.1:p.Ala839Thr
ENST00000683153.1:n.2743G>A
ENST00000683365.1:n.2689G>A
ENST00000683377.1:n.2587G>A
ENST00000683456.1:c.2518G>A	ENSP00000508318.1:p.Ala840Thr
ENST00000683522.1:n.2587G>A
ENST00000683562.1:c.*687G>A	ENSP00000508265.1:n.*687G>A
ENST00000683693.1:n.2584G>A
ENST00000683725.1:c.2518G>A	ENSP00000507496.1:p.Ala840Thr
ENST00000684010.1:n.2502G>A
ENST00000684157.1:n.2587G>A
ENST00000684253.1:n.2490G>A
ENST00000684288.1:c.*690G>A	ENSP00000507143.1:n.*690G>A
ENST00000684313.1:n.2019G>A
ENST00000684332.1:n.2660G>A
ENST00000684371.1:n.2693G>A
ENST00000684404.1:n.2584G>A
ENST00000684442.1:n.2587G>A
ENST00000684555.1:c.*730G>A	ENSP00000507705.1:n.*730G>A
ENST00000684571.1:c.2359G>A	ENSP00000506935.1:p.Ala787Thr
ENST00000684593.1:c.*2223G>A	ENSP00000507005.1:n.*2223G>A
ENST00000684711.1:c.*914G>A	ENSP00000506841.1:n.*914G>A
ENST00000302539.9:c.2521G>A	ENSP00000303960.4:p.Ala841Thr
ENST00000389817.8:c.2518G>A MANE Select	ENSP00000374467.4:p.Ala840Thr
ENST00000642271.1:c.2515G>A	ENSP00000493749.1:p.Ala839Thr
ENST00000642579.1:c.602G>A
ENST00000642611.1:n.2472G>A
ENST00000642902.1:c.2353G>A
ENST00000643260.1:c.2518G>A	ENSP00000494450.1:p.Ala840Thr
ENST00000643562.1:c.*494G>A	ENSP00000496124.1:n.*494G>A
ENST00000643925.1:c.562G>A
ENST00000644447.1:c.874G>A	ENSP00000496282.1:p.Ala292Thr
ENST00000644472.1:c.*879G>A	ENSP00000495378.1:n.*879G>A
ENST00000644484.1:c.*727G>A	ENSP00000493558.1:n.*727G>A
ENST00000644542.1:c.*2223G>A	ENSP00000495532.1:n.*2223G>A
ENST00000644675.1:c.*690G>A	ENSP00000494567.1:n.*690G>A
ENST00000644757.1:c.*823G>A	ENSP00000495085.1:n.*823G>A
ENST00000644772.1:c.2584G>A	ENSP00000494321.1:p.Ala862Thr
ENST00000645076.1:c.1770G>A
ENST00000645744.1:c.*882G>A	ENSP00000494564.1:n.*882G>A
ENST00000645760.1:c.2793G>A
ENST00000645884.1:c.2518G>A	ENSP00000495516.1:p.Ala840Thr
ENST00000646003.1:c.*574G>A	ENSP00000495259.1:n.*574G>A
ENST00000646207.1:c.*882G>A	ENSP00000495025.1:n.*882G>A
ENST00000646276.1:c.*791G>A	ENSP00000496070.1:n.*791G>A
ENST00000646592.1:c.1744G>A
ENST00000646902.1:c.2515G>A	ENSP00000494101.1:p.Ala839Thr
ENST00000646993.1:c.*914G>A	ENSP00000493720.1:n.*914G>A
ENST00000647013.1:c.2524G>A	ENSP00000496741.1:n.2524G>A
ENST00000647015.1:c.2269G>A	ENSP00000495389.1:p.Ala757Thr
ENST00000647086.1:c.*2248G>A	ENSP00000493677.1:n.*2248G>A
ENST00000647158.1:c.*659G>A	ENSP00000495744.1:n.*659G>A
ENST00000302539.8:c.2521G>A	ENSP00000303960.4:p.Ala841Thr
ENST00000389817.7:c.2518G>A	ENSP00000374467.3:p.Ala840Thr
ENST00000526921.5:n.202G>A
ENST00000527905.5:c.2488G>A	ENSP00000431653.1:p.Ala830Thr
ENST00000529967.5:n.187G>A
ENST00000530147.5:n.101G>A
ENST00000531911.1:n.632G>A
NM_000352.4:c.2518G>A	NP_000343.2:p.Ala840Thr
NM_001287174.1:c.2521G>A	NP_001274103.1:p.Ala841Thr
XM_011520331.1:c.2518G>A	XP_011518633.1:p.Ala840Thr
XM_011520332.1:c.2521G>A	XP_011518634.1:p.Ala841Thr
XM_011520333.1:c.1018G>A	XP_011518635.1:p.Ala340Thr
XM_011520334.1:c.2521G>A	XP_011518636.1:p.Ala841Thr
XR_930890.1:n.2584G>A
XR_930891.1:n.2584G>A
XR_930892.1:n.2584G>A
XR_930893.1:n.2581G>A
NM_001351295.1:c.2584G>A	NP_001338224.1:p.Ala862Thr
NM_001351296.1:c.2518G>A	NP_001338225.1:p.Ala840Thr
NM_001351297.1:c.2515G>A	NP_001338226.1:p.Ala839Thr
NR_147094.1:n.2587G>A
XM_017018197.2:c.2587G>A	XP_016873686.1:p.Ala863Thr
XM_017018199.1:c.2584G>A	XP_016873688.1:p.Ala862Thr
XM_017018201.2:c.2587G>A	XP_016873690.1:p.Ala863Thr
XM_017018202.1:c.1084G>A	XP_016873691.1:p.Ala362Thr
XM_017018204.1:c.475G>A	XP_016873693.1:p.Ala159Thr
XM_024448668.1:c.886G>A	XP_024304436.1:p.Ala296Thr
XR_001747945.2:n.2659G>A
XR_001747946.2:n.2590G>A
XR_002957189.1:n.2659G>A
NM_000352.6:c.2518G>A MANE Select	NP_000343.2:p.Ala840Thr
NM_001287174.2:c.2521G>A	NP_001274103.1:p.Ala841Thr
NM_001351295.2:c.2584G>A	NP_001338224.1:p.Ala862Thr
NM_001351296.2:c.2518G>A	NP_001338225.1:p.Ala840Thr
NM_001351297.2:c.2515G>A	NP_001338226.1:p.Ala839Thr
NR_147094.2:n.2587G>A
NM_001287174.3:c.2521G>A	NP_001274103.1:p.Ala841Thr