Canonical Allele Identifier: CA379805211

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430001C>A (hg19) ; chr11:g.17408454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408454C>A , CM000673.2:g.17408454C>A	GRCh38
NC_000011.9:g.17430001C>A , CM000673.1:g.17430001C>A	GRCh37
NC_000011.8:g.17386577C>A	NCBI36
NG_008867.1:g.73449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2427G>T
ENST00000529967.6:n.1017G>T
ENST00000532220.2:n.490G>T
ENST00000642611.2:n.2827G>T
ENST00000682051.1:n.2774G>T
ENST00000682110.1:n.2827G>T
ENST00000682140.1:c.2755G>T	ENSP00000507829.1:p.Glu919Ter
ENST00000682185.1:n.4063G>T
ENST00000682204.1:c.*896G>T	ENSP00000507094.1:n.*896G>T
ENST00000682215.1:n.2824G>T
ENST00000682288.1:c.*1189G>T	ENSP00000507506.1:n.*1189G>T
ENST00000682442.1:n.2948G>T
ENST00000682528.1:n.2824G>T
ENST00000682673.1:n.2771G>T
ENST00000682805.1:n.2824G>T
ENST00000682965.1:c.2755G>T	ENSP00000508229.1:p.Glu919Ter
ENST00000683093.1:n.2926G>T
ENST00000683136.1:c.2755G>T	ENSP00000507768.1:p.Glu919Ter
ENST00000683153.1:n.2983G>T
ENST00000683365.1:n.2929G>T
ENST00000683377.1:n.2827G>T
ENST00000683456.1:c.2758G>T	ENSP00000508318.1:p.Glu920Ter
ENST00000683522.1:n.2827G>T
ENST00000683562.1:c.*927G>T	ENSP00000508265.1:n.*927G>T
ENST00000683693.1:n.2824G>T
ENST00000683725.1:c.2758G>T	ENSP00000507496.1:p.Glu920Ter
ENST00000684010.1:n.2742G>T
ENST00000684157.1:n.2827G>T
ENST00000684253.1:n.2730G>T
ENST00000684288.1:c.*930G>T	ENSP00000507143.1:n.*930G>T
ENST00000684313.1:n.2259G>T
ENST00000684332.1:n.2900G>T
ENST00000684371.1:n.2933G>T
ENST00000684404.1:n.2824G>T
ENST00000684442.1:n.2827G>T
ENST00000684555.1:c.*970G>T	ENSP00000507705.1:n.*970G>T
ENST00000684571.1:c.2599G>T	ENSP00000506935.1:p.Glu867Ter
ENST00000684593.1:c.*2463G>T	ENSP00000507005.1:n.*2463G>T
ENST00000684711.1:c.*1154G>T	ENSP00000506841.1:n.*1154G>T
ENST00000302539.9:c.2761G>T	ENSP00000303960.4:p.Glu921Ter
ENST00000389817.8:c.2758G>T MANE Select	ENSP00000374467.4:p.Glu920Ter
ENST00000642271.1:c.2755G>T	ENSP00000493749.1:p.Glu919Ter
ENST00000642579.1:c.842G>T
ENST00000642611.1:n.2712G>T
ENST00000642902.1:c.2593G>T
ENST00000643260.1:c.2758G>T	ENSP00000494450.1:p.Glu920Ter
ENST00000643562.1:c.*734G>T	ENSP00000496124.1:n.*734G>T
ENST00000643925.1:c.802G>T
ENST00000644447.1:c.1114G>T	ENSP00000496282.1:p.Glu372Ter
ENST00000644472.1:c.*1119G>T	ENSP00000495378.1:n.*1119G>T
ENST00000644484.1:c.*967G>T	ENSP00000493558.1:n.*967G>T
ENST00000644542.1:c.*2463G>T	ENSP00000495532.1:n.*2463G>T
ENST00000644675.1:c.*930G>T	ENSP00000494567.1:n.*930G>T
ENST00000644757.1:c.*1063G>T	ENSP00000495085.1:n.*1063G>T
ENST00000644772.1:c.2824G>T	ENSP00000494321.1:p.Glu942Ter
ENST00000645076.1:c.2010G>T
ENST00000645744.1:c.*1122G>T	ENSP00000494564.1:n.*1122G>T
ENST00000645760.1:c.3033G>T
ENST00000645884.1:c.2758G>T	ENSP00000495516.1:p.Glu920Ter
ENST00000646003.1:c.*814G>T	ENSP00000495259.1:n.*814G>T
ENST00000646207.1:c.*1122G>T	ENSP00000495025.1:n.*1122G>T
ENST00000646276.1:c.*1031G>T	ENSP00000496070.1:n.*1031G>T
ENST00000646592.1:c.1984G>T
ENST00000646902.1:c.2755G>T	ENSP00000494101.1:p.Glu919Ter
ENST00000646993.1:c.*1154G>T	ENSP00000493720.1:n.*1154G>T
ENST00000647013.1:c.2764G>T	ENSP00000496741.1:n.2764G>T
ENST00000647015.1:c.2509G>T	ENSP00000495389.1:p.Glu837Ter
ENST00000647086.1:c.*2488G>T	ENSP00000493677.1:n.*2488G>T
ENST00000647158.1:c.*899G>T	ENSP00000495744.1:n.*899G>T
ENST00000302539.8:c.2761G>T	ENSP00000303960.4:p.Glu921Ter
ENST00000389817.7:c.2758G>T	ENSP00000374467.3:p.Glu920Ter
ENST00000526921.5:n.442G>T
ENST00000527905.5:c.2728G>T	ENSP00000431653.1:p.Glu910Ter
ENST00000529967.5:n.427G>T
NM_000352.4:c.2758G>T	NP_000343.2:p.Glu920Ter
NM_001287174.1:c.2761G>T	NP_001274103.1:p.Glu921Ter
XM_011520331.1:c.2758G>T	XP_011518633.1:p.Glu920Ter
XM_011520332.1:c.2761G>T	XP_011518634.1:p.Glu921Ter
XM_011520333.1:c.1258G>T	XP_011518635.1:p.Glu420Ter
XM_011520334.1:c.2761G>T	XP_011518636.1:p.Glu921Ter
XR_930890.1:n.2824G>T
XR_930891.1:n.2824G>T
XR_930892.1:n.2824G>T
XR_930893.1:n.2821G>T
NM_001351295.1:c.2824G>T	NP_001338224.1:p.Glu942Ter
NM_001351296.1:c.2758G>T	NP_001338225.1:p.Glu920Ter
NM_001351297.1:c.2755G>T	NP_001338226.1:p.Glu919Ter
NR_147094.1:n.2827G>T
XM_017018197.2:c.2827G>T	XP_016873686.1:p.Glu943Ter
XM_017018199.1:c.2824G>T	XP_016873688.1:p.Glu942Ter
XM_017018201.2:c.2827G>T	XP_016873690.1:p.Glu943Ter
XM_017018202.1:c.1324G>T	XP_016873691.1:p.Glu442Ter
XM_017018204.1:c.715G>T	XP_016873693.1:p.Glu239Ter
XM_024448668.1:c.1126G>T	XP_024304436.1:p.Glu376Ter
XR_001747945.2:n.2899G>T
XR_001747946.2:n.2830G>T
XR_002957189.1:n.2899G>T
NM_000352.6:c.2758G>T MANE Select	NP_000343.2:p.Glu920Ter
NM_001287174.2:c.2761G>T	NP_001274103.1:p.Glu921Ter
NM_001351295.2:c.2824G>T	NP_001338224.1:p.Glu942Ter
NM_001351296.2:c.2758G>T	NP_001338225.1:p.Glu920Ter
NM_001351297.2:c.2755G>T	NP_001338226.1:p.Glu919Ter
NR_147094.2:n.2827G>T
NM_001287174.3:c.2761G>T	NP_001274103.1:p.Glu921Ter