Canonical Allele Identifier: CA379806069

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432090C>A (hg19) ; chr11:g.17410543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410543C>A , CM000673.2:g.17410543C>A	GRCh38
NC_000011.9:g.17432090C>A , CM000673.1:g.17432090C>A	GRCh37
NC_000011.8:g.17388666C>A	NCBI36
NG_008867.1:g.71360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2336G>T
ENST00000529967.6:n.926G>T
ENST00000642611.2:n.2736G>T
ENST00000682051.1:n.2683G>T
ENST00000682110.1:n.2736G>T
ENST00000682140.1:c.2664G>T	ENSP00000507829.1:p.Lys888Asn
ENST00000682185.1:n.3972G>T
ENST00000682204.1:c.*805G>T	ENSP00000507094.1:n.*805G>T
ENST00000682215.1:n.2733G>T
ENST00000682288.1:c.*1098G>T	ENSP00000507506.1:n.*1098G>T
ENST00000682442.1:n.2857G>T
ENST00000682528.1:n.2733G>T
ENST00000682673.1:n.2680G>T
ENST00000682805.1:n.2733G>T
ENST00000682965.1:c.2664G>T	ENSP00000508229.1:p.Lys888Asn
ENST00000683093.1:n.2835G>T
ENST00000683136.1:c.2664G>T	ENSP00000507768.1:p.Lys888Asn
ENST00000683153.1:n.2892G>T
ENST00000683365.1:n.2838G>T
ENST00000683377.1:n.2736G>T
ENST00000683456.1:c.2667G>T	ENSP00000508318.1:p.Lys889Asn
ENST00000683522.1:n.2736G>T
ENST00000683562.1:c.*836G>T	ENSP00000508265.1:n.*836G>T
ENST00000683693.1:n.2733G>T
ENST00000683725.1:c.2667G>T	ENSP00000507496.1:p.Lys889Asn
ENST00000684010.1:n.2651G>T
ENST00000684157.1:n.2736G>T
ENST00000684253.1:n.2639G>T
ENST00000684288.1:c.*839G>T	ENSP00000507143.1:n.*839G>T
ENST00000684313.1:n.2168G>T
ENST00000684332.1:n.2809G>T
ENST00000684371.1:n.2842G>T
ENST00000684404.1:n.2733G>T
ENST00000684442.1:n.2736G>T
ENST00000684555.1:c.*879G>T	ENSP00000507705.1:n.*879G>T
ENST00000684571.1:c.2508G>T	ENSP00000506935.1:p.Lys836Asn
ENST00000684593.1:c.*2372G>T	ENSP00000507005.1:n.*2372G>T
ENST00000684711.1:c.*1063G>T	ENSP00000506841.1:n.*1063G>T
ENST00000302539.9:c.2670G>T	ENSP00000303960.4:p.Lys890Asn
ENST00000389817.8:c.2667G>T MANE Select	ENSP00000374467.4:p.Lys889Asn
ENST00000642271.1:c.2664G>T	ENSP00000493749.1:p.Lys888Asn
ENST00000642579.1:c.751G>T
ENST00000642611.1:n.2621G>T
ENST00000642902.1:c.2502G>T
ENST00000643260.1:c.2667G>T	ENSP00000494450.1:p.Lys889Asn
ENST00000643562.1:c.*643G>T	ENSP00000496124.1:n.*643G>T
ENST00000643925.1:c.711G>T
ENST00000644447.1:c.1023G>T	ENSP00000496282.1:p.Lys341Asn
ENST00000644472.1:c.*1028G>T	ENSP00000495378.1:n.*1028G>T
ENST00000644484.1:c.*876G>T	ENSP00000493558.1:n.*876G>T
ENST00000644542.1:c.*2372G>T	ENSP00000495532.1:n.*2372G>T
ENST00000644675.1:c.*839G>T	ENSP00000494567.1:n.*839G>T
ENST00000644757.1:c.*972G>T	ENSP00000495085.1:n.*972G>T
ENST00000644772.1:c.2733G>T	ENSP00000494321.1:p.Lys911Asn
ENST00000645076.1:c.1919G>T
ENST00000645744.1:c.*1031G>T	ENSP00000494564.1:n.*1031G>T
ENST00000645760.1:c.2942G>T
ENST00000645884.1:c.2667G>T	ENSP00000495516.1:p.Lys889Asn
ENST00000646003.1:c.*723G>T	ENSP00000495259.1:n.*723G>T
ENST00000646207.1:c.*1031G>T	ENSP00000495025.1:n.*1031G>T
ENST00000646276.1:c.*940G>T	ENSP00000496070.1:n.*940G>T
ENST00000646592.1:c.1893G>T
ENST00000646902.1:c.2664G>T	ENSP00000494101.1:p.Lys888Asn
ENST00000646993.1:c.*1063G>T	ENSP00000493720.1:n.*1063G>T
ENST00000647013.1:c.2673G>T	ENSP00000496741.1:n.2673G>T
ENST00000647015.1:c.2418G>T	ENSP00000495389.1:p.Lys806Asn
ENST00000647086.1:c.*2397G>T	ENSP00000493677.1:n.*2397G>T
ENST00000647158.1:c.*808G>T	ENSP00000495744.1:n.*808G>T
ENST00000302539.8:c.2670G>T	ENSP00000303960.4:p.Lys890Asn
ENST00000389817.7:c.2667G>T	ENSP00000374467.3:p.Lys889Asn
ENST00000526921.5:n.351G>T
ENST00000527905.5:c.2637G>T	ENSP00000431653.1:p.Lys879Asn
ENST00000529967.5:n.336G>T
ENST00000530147.5:n.250G>T
NM_000352.4:c.2667G>T	NP_000343.2:p.Lys889Asn
NM_001287174.1:c.2670G>T	NP_001274103.1:p.Lys890Asn
XM_011520331.1:c.2667G>T	XP_011518633.1:p.Lys889Asn
XM_011520332.1:c.2670G>T	XP_011518634.1:p.Lys890Asn
XM_011520333.1:c.1167G>T	XP_011518635.1:p.Lys389Asn
XM_011520334.1:c.2670G>T	XP_011518636.1:p.Lys890Asn
XR_930890.1:n.2733G>T
XR_930891.1:n.2733G>T
XR_930892.1:n.2733G>T
XR_930893.1:n.2730G>T
NM_001351295.1:c.2733G>T	NP_001338224.1:p.Lys911Asn
NM_001351296.1:c.2667G>T	NP_001338225.1:p.Lys889Asn
NM_001351297.1:c.2664G>T	NP_001338226.1:p.Lys888Asn
NR_147094.1:n.2736G>T
XM_017018197.2:c.2736G>T	XP_016873686.1:p.Lys912Asn
XM_017018199.1:c.2733G>T	XP_016873688.1:p.Lys911Asn
XM_017018201.2:c.2736G>T	XP_016873690.1:p.Lys912Asn
XM_017018202.1:c.1233G>T	XP_016873691.1:p.Lys411Asn
XM_017018204.1:c.624G>T	XP_016873693.1:p.Lys208Asn
XM_024448668.1:c.1035G>T	XP_024304436.1:p.Lys345Asn
XR_001747945.2:n.2808G>T
XR_001747946.2:n.2739G>T
XR_002957189.1:n.2808G>T
NM_000352.6:c.2667G>T MANE Select	NP_000343.2:p.Lys889Asn
NM_001287174.2:c.2670G>T	NP_001274103.1:p.Lys890Asn
NM_001351295.2:c.2733G>T	NP_001338224.1:p.Lys911Asn
NM_001351296.2:c.2667G>T	NP_001338225.1:p.Lys889Asn
NM_001351297.2:c.2664G>T	NP_001338226.1:p.Lys888Asn
NR_147094.2:n.2736G>T
NM_001287174.3:c.2670G>T	NP_001274103.1:p.Lys890Asn