Canonical Allele Identifier: CA379805199

Gene: ABCC8

Linked Data

• dbSNP Id: rs1954645113
• MyVariant Identifiers: chr11:g.17429999T>A (hg19) ; chr11:g.17408452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408452T>A , CM000673.2:g.17408452T>A	GRCh38
NC_000011.9:g.17429999T>A , CM000673.1:g.17429999T>A	GRCh37
NC_000011.8:g.17386575T>A	NCBI36
NG_008867.1:g.73451A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2429A>T
ENST00000529967.6:n.1019A>T
ENST00000532220.2:n.492A>T
ENST00000642611.2:n.2829A>T
ENST00000682051.1:n.2776A>T
ENST00000682110.1:n.2829A>T
ENST00000682140.1:c.2757A>T	ENSP00000507829.1:p.Glu919Asp
ENST00000682185.1:n.4065A>T
ENST00000682204.1:c.*898A>T	ENSP00000507094.1:n.*898A>T
ENST00000682215.1:n.2826A>T
ENST00000682288.1:c.*1191A>T	ENSP00000507506.1:n.*1191A>T
ENST00000682442.1:n.2950A>T
ENST00000682528.1:n.2826A>T
ENST00000682673.1:n.2773A>T
ENST00000682805.1:n.2826A>T
ENST00000682965.1:c.2757A>T	ENSP00000508229.1:p.Glu919Asp
ENST00000683093.1:n.2928A>T
ENST00000683136.1:c.2757A>T	ENSP00000507768.1:p.Glu919Asp
ENST00000683153.1:n.2985A>T
ENST00000683365.1:n.2931A>T
ENST00000683377.1:n.2829A>T
ENST00000683456.1:c.2760A>T	ENSP00000508318.1:p.Glu920Asp
ENST00000683522.1:n.2829A>T
ENST00000683562.1:c.*929A>T	ENSP00000508265.1:n.*929A>T
ENST00000683693.1:n.2826A>T
ENST00000683725.1:c.2760A>T	ENSP00000507496.1:p.Glu920Asp
ENST00000684010.1:n.2744A>T
ENST00000684157.1:n.2829A>T
ENST00000684253.1:n.2732A>T
ENST00000684288.1:c.*932A>T	ENSP00000507143.1:n.*932A>T
ENST00000684313.1:n.2261A>T
ENST00000684332.1:n.2902A>T
ENST00000684371.1:n.2935A>T
ENST00000684404.1:n.2826A>T
ENST00000684442.1:n.2829A>T
ENST00000684555.1:c.*972A>T	ENSP00000507705.1:n.*972A>T
ENST00000684571.1:c.2601A>T	ENSP00000506935.1:p.Glu867Asp
ENST00000684593.1:c.*2465A>T	ENSP00000507005.1:n.*2465A>T
ENST00000684711.1:c.*1156A>T	ENSP00000506841.1:n.*1156A>T
ENST00000302539.9:c.2763A>T	ENSP00000303960.4:p.Glu921Asp
ENST00000389817.8:c.2760A>T MANE Select	ENSP00000374467.4:p.Glu920Asp
ENST00000642271.1:c.2757A>T	ENSP00000493749.1:p.Glu919Asp
ENST00000642579.1:c.844A>T
ENST00000642611.1:n.2714A>T
ENST00000642902.1:c.2595A>T
ENST00000643260.1:c.2760A>T	ENSP00000494450.1:p.Glu920Asp
ENST00000643562.1:c.*736A>T	ENSP00000496124.1:n.*736A>T
ENST00000643925.1:c.804A>T
ENST00000644447.1:c.1116A>T	ENSP00000496282.1:p.Glu372Asp
ENST00000644472.1:c.*1121A>T	ENSP00000495378.1:n.*1121A>T
ENST00000644484.1:c.*969A>T	ENSP00000493558.1:n.*969A>T
ENST00000644542.1:c.*2465A>T	ENSP00000495532.1:n.*2465A>T
ENST00000644675.1:c.*932A>T	ENSP00000494567.1:n.*932A>T
ENST00000644757.1:c.*1065A>T	ENSP00000495085.1:n.*1065A>T
ENST00000644772.1:c.2826A>T	ENSP00000494321.1:p.Glu942Asp
ENST00000645076.1:c.2012A>T
ENST00000645744.1:c.*1124A>T	ENSP00000494564.1:n.*1124A>T
ENST00000645760.1:c.3035A>T
ENST00000645884.1:c.2760A>T	ENSP00000495516.1:p.Glu920Asp
ENST00000646003.1:c.*816A>T	ENSP00000495259.1:n.*816A>T
ENST00000646207.1:c.*1124A>T	ENSP00000495025.1:n.*1124A>T
ENST00000646276.1:c.*1033A>T	ENSP00000496070.1:n.*1033A>T
ENST00000646592.1:c.1986A>T
ENST00000646902.1:c.2757A>T	ENSP00000494101.1:p.Glu919Asp
ENST00000646993.1:c.*1156A>T	ENSP00000493720.1:n.*1156A>T
ENST00000647013.1:c.2766A>T	ENSP00000496741.1:n.2766A>T
ENST00000647015.1:c.2511A>T	ENSP00000495389.1:p.Glu837Asp
ENST00000647086.1:c.*2490A>T	ENSP00000493677.1:n.*2490A>T
ENST00000647158.1:c.*901A>T	ENSP00000495744.1:n.*901A>T
ENST00000302539.8:c.2763A>T	ENSP00000303960.4:p.Glu921Asp
ENST00000389817.7:c.2760A>T	ENSP00000374467.3:p.Glu920Asp
ENST00000526921.5:n.444A>T
ENST00000527905.5:c.2730A>T	ENSP00000431653.1:p.Glu910Asp
ENST00000529967.5:n.429A>T
NM_000352.4:c.2760A>T	NP_000343.2:p.Glu920Asp
NM_001287174.1:c.2763A>T	NP_001274103.1:p.Glu921Asp
XM_011520331.1:c.2760A>T	XP_011518633.1:p.Glu920Asp
XM_011520332.1:c.2763A>T	XP_011518634.1:p.Glu921Asp
XM_011520333.1:c.1260A>T	XP_011518635.1:p.Glu420Asp
XM_011520334.1:c.2763A>T	XP_011518636.1:p.Glu921Asp
XR_930890.1:n.2826A>T
XR_930891.1:n.2826A>T
XR_930892.1:n.2826A>T
XR_930893.1:n.2823A>T
NM_001351295.1:c.2826A>T	NP_001338224.1:p.Glu942Asp
NM_001351296.1:c.2760A>T	NP_001338225.1:p.Glu920Asp
NM_001351297.1:c.2757A>T	NP_001338226.1:p.Glu919Asp
NR_147094.1:n.2829A>T
XM_017018197.2:c.2829A>T	XP_016873686.1:p.Glu943Asp
XM_017018199.1:c.2826A>T	XP_016873688.1:p.Glu942Asp
XM_017018201.2:c.2829A>T	XP_016873690.1:p.Glu943Asp
XM_017018202.1:c.1326A>T	XP_016873691.1:p.Glu442Asp
XM_017018204.1:c.717A>T	XP_016873693.1:p.Glu239Asp
XM_024448668.1:c.1128A>T	XP_024304436.1:p.Glu376Asp
XR_001747945.2:n.2901A>T
XR_001747946.2:n.2832A>T
XR_002957189.1:n.2901A>T
NM_000352.6:c.2760A>T MANE Select	NP_000343.2:p.Glu920Asp
NM_001287174.2:c.2763A>T	NP_001274103.1:p.Glu921Asp
NM_001351295.2:c.2826A>T	NP_001338224.1:p.Glu942Asp
NM_001351296.2:c.2760A>T	NP_001338225.1:p.Glu920Asp
NM_001351297.2:c.2757A>T	NP_001338226.1:p.Glu919Asp
NR_147094.2:n.2829A>T
NM_001287174.3:c.2763A>T	NP_001274103.1:p.Glu921Asp