Canonical Allele Identifier: CA379806325

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432127C>A (hg19) ; chr11:g.17410580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410580C>A , CM000673.2:g.17410580C>A	GRCh38
NC_000011.9:g.17432127C>A , CM000673.1:g.17432127C>A	GRCh37
NC_000011.8:g.17388703C>A	NCBI36
NG_008867.1:g.71323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2299G>T
ENST00000529967.6:n.889G>T
ENST00000642611.2:n.2699G>T
ENST00000682051.1:n.2646G>T
ENST00000682110.1:n.2699G>T
ENST00000682140.1:c.2627G>T	ENSP00000507829.1:p.Arg876Leu
ENST00000682185.1:n.3935G>T
ENST00000682204.1:c.*768G>T	ENSP00000507094.1:n.*768G>T
ENST00000682215.1:n.2696G>T
ENST00000682288.1:c.*1061G>T	ENSP00000507506.1:n.*1061G>T
ENST00000682442.1:n.2820G>T
ENST00000682528.1:n.2696G>T
ENST00000682673.1:n.2643G>T
ENST00000682805.1:n.2696G>T
ENST00000682965.1:c.2627G>T	ENSP00000508229.1:p.Arg876Leu
ENST00000683093.1:n.2798G>T
ENST00000683136.1:c.2627G>T	ENSP00000507768.1:p.Arg876Leu
ENST00000683153.1:n.2855G>T
ENST00000683365.1:n.2801G>T
ENST00000683377.1:n.2699G>T
ENST00000683456.1:c.2630G>T	ENSP00000508318.1:p.Arg877Leu
ENST00000683522.1:n.2699G>T
ENST00000683562.1:c.*799G>T	ENSP00000508265.1:n.*799G>T
ENST00000683693.1:n.2696G>T
ENST00000683725.1:c.2630G>T	ENSP00000507496.1:p.Arg877Leu
ENST00000684010.1:n.2614G>T
ENST00000684157.1:n.2699G>T
ENST00000684253.1:n.2602G>T
ENST00000684288.1:c.*802G>T	ENSP00000507143.1:n.*802G>T
ENST00000684313.1:n.2131G>T
ENST00000684332.1:n.2772G>T
ENST00000684371.1:n.2805G>T
ENST00000684404.1:n.2696G>T
ENST00000684442.1:n.2699G>T
ENST00000684555.1:c.*842G>T	ENSP00000507705.1:n.*842G>T
ENST00000684571.1:c.2471G>T	ENSP00000506935.1:p.Arg824Leu
ENST00000684593.1:c.*2335G>T	ENSP00000507005.1:n.*2335G>T
ENST00000684711.1:c.*1026G>T	ENSP00000506841.1:n.*1026G>T
ENST00000302539.9:c.2633G>T	ENSP00000303960.4:p.Arg878Leu
ENST00000389817.8:c.2630G>T MANE Select	ENSP00000374467.4:p.Arg877Leu
ENST00000642271.1:c.2627G>T	ENSP00000493749.1:p.Arg876Leu
ENST00000642579.1:c.714G>T
ENST00000642611.1:n.2584G>T
ENST00000642902.1:c.2465G>T
ENST00000643260.1:c.2630G>T	ENSP00000494450.1:p.Arg877Leu
ENST00000643562.1:c.*606G>T	ENSP00000496124.1:n.*606G>T
ENST00000643925.1:c.674G>T
ENST00000644447.1:c.986G>T	ENSP00000496282.1:p.Arg329Leu
ENST00000644472.1:c.*991G>T	ENSP00000495378.1:n.*991G>T
ENST00000644484.1:c.*839G>T	ENSP00000493558.1:n.*839G>T
ENST00000644542.1:c.*2335G>T	ENSP00000495532.1:n.*2335G>T
ENST00000644675.1:c.*802G>T	ENSP00000494567.1:n.*802G>T
ENST00000644757.1:c.*935G>T	ENSP00000495085.1:n.*935G>T
ENST00000644772.1:c.2696G>T	ENSP00000494321.1:p.Arg899Leu
ENST00000645076.1:c.1882G>T
ENST00000645744.1:c.*994G>T	ENSP00000494564.1:n.*994G>T
ENST00000645760.1:c.2905G>T
ENST00000645884.1:c.2630G>T	ENSP00000495516.1:p.Arg877Leu
ENST00000646003.1:c.*686G>T	ENSP00000495259.1:n.*686G>T
ENST00000646207.1:c.*994G>T	ENSP00000495025.1:n.*994G>T
ENST00000646276.1:c.*903G>T	ENSP00000496070.1:n.*903G>T
ENST00000646592.1:c.1856G>T
ENST00000646902.1:c.2627G>T	ENSP00000494101.1:p.Arg876Leu
ENST00000646993.1:c.*1026G>T	ENSP00000493720.1:n.*1026G>T
ENST00000647013.1:c.2636G>T	ENSP00000496741.1:n.2636G>T
ENST00000647015.1:c.2381G>T	ENSP00000495389.1:p.Arg794Leu
ENST00000647086.1:c.*2360G>T	ENSP00000493677.1:n.*2360G>T
ENST00000647158.1:c.*771G>T	ENSP00000495744.1:n.*771G>T
ENST00000302539.8:c.2633G>T	ENSP00000303960.4:p.Arg878Leu
ENST00000389817.7:c.2630G>T	ENSP00000374467.3:p.Arg877Leu
ENST00000526921.5:n.314G>T
ENST00000527905.5:c.2600G>T	ENSP00000431653.1:p.Arg867Leu
ENST00000529967.5:n.299G>T
ENST00000530147.5:n.213G>T
NM_000352.4:c.2630G>T	NP_000343.2:p.Arg877Leu
NM_001287174.1:c.2633G>T	NP_001274103.1:p.Arg878Leu
XM_011520331.1:c.2630G>T	XP_011518633.1:p.Arg877Leu
XM_011520332.1:c.2633G>T	XP_011518634.1:p.Arg878Leu
XM_011520333.1:c.1130G>T	XP_011518635.1:p.Arg377Leu
XM_011520334.1:c.2633G>T	XP_011518636.1:p.Arg878Leu
XR_930890.1:n.2696G>T
XR_930891.1:n.2696G>T
XR_930892.1:n.2696G>T
XR_930893.1:n.2693G>T
NM_001351295.1:c.2696G>T	NP_001338224.1:p.Arg899Leu
NM_001351296.1:c.2630G>T	NP_001338225.1:p.Arg877Leu
NM_001351297.1:c.2627G>T	NP_001338226.1:p.Arg876Leu
NR_147094.1:n.2699G>T
XM_017018197.2:c.2699G>T	XP_016873686.1:p.Arg900Leu
XM_017018199.1:c.2696G>T	XP_016873688.1:p.Arg899Leu
XM_017018201.2:c.2699G>T	XP_016873690.1:p.Arg900Leu
XM_017018202.1:c.1196G>T	XP_016873691.1:p.Arg399Leu
XM_017018204.1:c.587G>T	XP_016873693.1:p.Arg196Leu
XM_024448668.1:c.998G>T	XP_024304436.1:p.Arg333Leu
XR_001747945.2:n.2771G>T
XR_001747946.2:n.2702G>T
XR_002957189.1:n.2771G>T
NM_000352.6:c.2630G>T MANE Select	NP_000343.2:p.Arg877Leu
NM_001287174.2:c.2633G>T	NP_001274103.1:p.Arg878Leu
NM_001351295.2:c.2696G>T	NP_001338224.1:p.Arg899Leu
NM_001351296.2:c.2630G>T	NP_001338225.1:p.Arg877Leu
NM_001351297.2:c.2627G>T	NP_001338226.1:p.Arg876Leu
NR_147094.2:n.2699G>T
NM_001287174.3:c.2633G>T	NP_001274103.1:p.Arg878Leu