Canonical Allele Identifier: CA379805258

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430007T>A (hg19) ; chr11:g.17408460T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408460T>A , CM000673.2:g.17408460T>A	GRCh38
NC_000011.9:g.17430007T>A , CM000673.1:g.17430007T>A	GRCh37
NC_000011.8:g.17386583T>A	NCBI36
NG_008867.1:g.73443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2421A>T
ENST00000529967.6:n.1011A>T
ENST00000532220.2:n.484A>T
ENST00000642611.2:n.2821A>T
ENST00000682051.1:n.2768A>T
ENST00000682110.1:n.2821A>T
ENST00000682140.1:c.2749A>T	ENSP00000507829.1:p.Arg917Trp
ENST00000682185.1:n.4057A>T
ENST00000682204.1:c.*890A>T	ENSP00000507094.1:n.*890A>T
ENST00000682215.1:n.2818A>T
ENST00000682288.1:c.*1183A>T	ENSP00000507506.1:n.*1183A>T
ENST00000682442.1:n.2942A>T
ENST00000682528.1:n.2818A>T
ENST00000682673.1:n.2765A>T
ENST00000682805.1:n.2818A>T
ENST00000682965.1:c.2749A>T	ENSP00000508229.1:p.Arg917Trp
ENST00000683093.1:n.2920A>T
ENST00000683136.1:c.2749A>T	ENSP00000507768.1:p.Arg917Trp
ENST00000683153.1:n.2977A>T
ENST00000683365.1:n.2923A>T
ENST00000683377.1:n.2821A>T
ENST00000683456.1:c.2752A>T	ENSP00000508318.1:p.Arg918Trp
ENST00000683522.1:n.2821A>T
ENST00000683562.1:c.*921A>T	ENSP00000508265.1:n.*921A>T
ENST00000683693.1:n.2818A>T
ENST00000683725.1:c.2752A>T	ENSP00000507496.1:p.Arg918Trp
ENST00000684010.1:n.2736A>T
ENST00000684157.1:n.2821A>T
ENST00000684253.1:n.2724A>T
ENST00000684288.1:c.*924A>T	ENSP00000507143.1:n.*924A>T
ENST00000684313.1:n.2253A>T
ENST00000684332.1:n.2894A>T
ENST00000684371.1:n.2927A>T
ENST00000684404.1:n.2818A>T
ENST00000684442.1:n.2821A>T
ENST00000684555.1:c.*964A>T	ENSP00000507705.1:n.*964A>T
ENST00000684571.1:c.2593A>T	ENSP00000506935.1:p.Arg865Trp
ENST00000684593.1:c.*2457A>T	ENSP00000507005.1:n.*2457A>T
ENST00000684711.1:c.*1148A>T	ENSP00000506841.1:n.*1148A>T
ENST00000302539.9:c.2755A>T	ENSP00000303960.4:p.Arg919Trp
ENST00000389817.8:c.2752A>T MANE Select	ENSP00000374467.4:p.Arg918Trp
ENST00000642271.1:c.2749A>T	ENSP00000493749.1:p.Arg917Trp
ENST00000642579.1:c.836A>T
ENST00000642611.1:n.2706A>T
ENST00000642902.1:c.2587A>T
ENST00000643260.1:c.2752A>T	ENSP00000494450.1:p.Arg918Trp
ENST00000643562.1:c.*728A>T	ENSP00000496124.1:n.*728A>T
ENST00000643925.1:c.796A>T
ENST00000644447.1:c.1108A>T	ENSP00000496282.1:p.Arg370Trp
ENST00000644472.1:c.*1113A>T	ENSP00000495378.1:n.*1113A>T
ENST00000644484.1:c.*961A>T	ENSP00000493558.1:n.*961A>T
ENST00000644542.1:c.*2457A>T	ENSP00000495532.1:n.*2457A>T
ENST00000644675.1:c.*924A>T	ENSP00000494567.1:n.*924A>T
ENST00000644757.1:c.*1057A>T	ENSP00000495085.1:n.*1057A>T
ENST00000644772.1:c.2818A>T	ENSP00000494321.1:p.Arg940Trp
ENST00000645076.1:c.2004A>T
ENST00000645744.1:c.*1116A>T	ENSP00000494564.1:n.*1116A>T
ENST00000645760.1:c.3027A>T
ENST00000645884.1:c.2752A>T	ENSP00000495516.1:p.Arg918Trp
ENST00000646003.1:c.*808A>T	ENSP00000495259.1:n.*808A>T
ENST00000646207.1:c.*1116A>T	ENSP00000495025.1:n.*1116A>T
ENST00000646276.1:c.*1025A>T	ENSP00000496070.1:n.*1025A>T
ENST00000646592.1:c.1978A>T
ENST00000646902.1:c.2749A>T	ENSP00000494101.1:p.Arg917Trp
ENST00000646993.1:c.*1148A>T	ENSP00000493720.1:n.*1148A>T
ENST00000647013.1:c.2758A>T	ENSP00000496741.1:n.2758A>T
ENST00000647015.1:c.2503A>T	ENSP00000495389.1:p.Arg835Trp
ENST00000647086.1:c.*2482A>T	ENSP00000493677.1:n.*2482A>T
ENST00000647158.1:c.*893A>T	ENSP00000495744.1:n.*893A>T
ENST00000302539.8:c.2755A>T	ENSP00000303960.4:p.Arg919Trp
ENST00000389817.7:c.2752A>T	ENSP00000374467.3:p.Arg918Trp
ENST00000526921.5:n.436A>T
ENST00000527905.5:c.2722A>T	ENSP00000431653.1:p.Arg908Trp
ENST00000529967.5:n.421A>T
NM_000352.4:c.2752A>T	NP_000343.2:p.Arg918Trp
NM_001287174.1:c.2755A>T	NP_001274103.1:p.Arg919Trp
XM_011520331.1:c.2752A>T	XP_011518633.1:p.Arg918Trp
XM_011520332.1:c.2755A>T	XP_011518634.1:p.Arg919Trp
XM_011520333.1:c.1252A>T	XP_011518635.1:p.Arg418Trp
XM_011520334.1:c.2755A>T	XP_011518636.1:p.Arg919Trp
XR_930890.1:n.2818A>T
XR_930891.1:n.2818A>T
XR_930892.1:n.2818A>T
XR_930893.1:n.2815A>T
NM_001351295.1:c.2818A>T	NP_001338224.1:p.Arg940Trp
NM_001351296.1:c.2752A>T	NP_001338225.1:p.Arg918Trp
NM_001351297.1:c.2749A>T	NP_001338226.1:p.Arg917Trp
NR_147094.1:n.2821A>T
XM_017018197.2:c.2821A>T	XP_016873686.1:p.Arg941Trp
XM_017018199.1:c.2818A>T	XP_016873688.1:p.Arg940Trp
XM_017018201.2:c.2821A>T	XP_016873690.1:p.Arg941Trp
XM_017018202.1:c.1318A>T	XP_016873691.1:p.Arg440Trp
XM_017018204.1:c.709A>T	XP_016873693.1:p.Arg237Trp
XM_024448668.1:c.1120A>T	XP_024304436.1:p.Arg374Trp
XR_001747945.2:n.2893A>T
XR_001747946.2:n.2824A>T
XR_002957189.1:n.2893A>T
NM_000352.6:c.2752A>T MANE Select	NP_000343.2:p.Arg918Trp
NM_001287174.2:c.2755A>T	NP_001274103.1:p.Arg919Trp
NM_001351295.2:c.2818A>T	NP_001338224.1:p.Arg940Trp
NM_001351296.2:c.2752A>T	NP_001338225.1:p.Arg918Trp
NM_001351297.2:c.2749A>T	NP_001338226.1:p.Arg917Trp
NR_147094.2:n.2821A>T
NM_001287174.3:c.2755A>T	NP_001274103.1:p.Arg919Trp