Canonical Allele Identifier: CA5902491

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395258T>A , CM000673.2:g.17395258T>A	GRCh38
NC_000011.9:g.17416805T>A , CM000673.1:g.17416805T>A	GRCh37
NC_000011.8:g.17373381T>A	NCBI36
NG_008867.1:g.86645A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4325A>T MANE Select	NP_000343.2:p.Glu1442Val
ENST00000389817.8:c.4325A>T MANE Select	ENSP00000374467.4:p.Glu1442Val
NM_000352.4:c.4325A>T	NP_000343.2:p.Glu1442Val
NM_001287174.1:c.4328A>T	NP_001274103.1:p.Glu1443Val
NM_001287174.2:c.4328A>T	NP_001274103.1:p.Glu1443Val
NM_001287174.3:c.4328A>T	NP_001274103.1:p.Glu1443Val
NM_001351295.1:c.4391A>T	NP_001338224.1:p.Glu1464Val
NM_001351295.2:c.4391A>T	NP_001338224.1:p.Glu1464Val
NM_001351296.1:c.4325A>T	NP_001338225.1:p.Glu1442Val
NM_001351296.2:c.4325A>T	NP_001338225.1:p.Glu1442Val
NM_001351297.1:c.4322A>T	NP_001338226.1:p.Glu1441Val
NM_001351297.2:c.4322A>T	NP_001338226.1:p.Glu1441Val
NR_147094.1:n.4620A>T
NR_147094.2:n.4620A>T
ENST00000302539.8:c.4328A>T	ENSP00000303960.4:p.Glu1443Val
ENST00000302539.9:c.4328A>T	ENSP00000303960.4:p.Glu1443Val
ENST00000389817.7:c.4325A>T	ENSP00000374467.3:p.Glu1442Val
ENST00000524561.2:n.3926A>T
ENST00000525022.1:n.306+352A>T
ENST00000526037.5:n.171+352A>T
ENST00000526037.6:n.260A>T
ENST00000526168.5:c.113A>T
ENST00000528374.2:c.916A>T
ENST00000529967.6:n.2664A>T
ENST00000531642.5:c.356A>T
ENST00000532220.2:n.3558A>T
ENST00000642271.1:c.4322A>T	ENSP00000493749.1:p.Glu1441Val
ENST00000642579.1:c.2379A>T
ENST00000642611.1:n.5543A>T
ENST00000642611.2:n.5658A>T
ENST00000642902.1:c.4107A>T
ENST00000643260.1:c.4325A>T	ENSP00000494450.1:p.Glu1442Val
ENST00000643562.1:c.*2447A>T	ENSP00000496124.1:n.*2447A>T
ENST00000643925.1:c.2965A>T
ENST00000644057.1:n.402A>T
ENST00000644057.2:n.901A>T
ENST00000644484.1:c.*3711A>T	ENSP00000493558.1:n.*3711A>T
ENST00000644675.1:c.*2497A>T	ENSP00000494567.1:n.*2497A>T
ENST00000644757.1:c.*3202+1006A>T	ENSP00000495085.1:n.*3202+1006A>T
ENST00000644772.1:c.4391A>T	ENSP00000494321.1:p.Glu1464Val
ENST00000645004.1:n.2018A>T
ENST00000645004.2:n.1824A>T
ENST00000645076.1:c.3506+352A>T
ENST00000645417.1:c.1513A>T
ENST00000645744.1:c.*4010A>T	ENSP00000494564.1:n.*4010A>T
ENST00000645760.1:c.4746A>T
ENST00000645884.1:c.*1608A>T	ENSP00000495516.1:n.*1608A>T
ENST00000646003.1:c.*2347A>T	ENSP00000495259.1:n.*2347A>T
ENST00000646207.1:c.*3162A>T	ENSP00000495025.1:n.*3162A>T
ENST00000646276.1:c.*3729A>T	ENSP00000496070.1:n.*3729A>T
ENST00000646592.1:c.3631A>T
ENST00000646902.1:c.4292A>T	ENSP00000494101.1:p.Glu1431Val
ENST00000646993.1:c.*2849+352A>T	ENSP00000493720.1:n.*2849+352A>T
ENST00000647013.1:c.4331A>T	ENSP00000496741.1:n.4331A>T
ENST00000647015.1:c.4076A>T	ENSP00000495389.1:p.Glu1359Val
ENST00000647086.1:c.*3911A>T	ENSP00000493677.1:n.*3911A>T
ENST00000647158.1:c.*2612A>T	ENSP00000495744.1:n.*2612A>T
ENST00000682051.1:n.4487A>T
ENST00000682110.1:n.4540A>T
ENST00000682140.1:c.*111A>T	ENSP00000507829.1:n.*111A>T
ENST00000682185.1:n.5630A>T
ENST00000682204.1:c.*2463A>T	ENSP00000507094.1:n.*2463A>T
ENST00000682215.1:n.4907A>T
ENST00000682288.1:c.*2756A>T	ENSP00000507506.1:n.*2756A>T
ENST00000682442.1:n.4760A>T
ENST00000682528.1:n.4617A>T
ENST00000682673.1:n.4484A>T
ENST00000682805.1:n.4945A>T
ENST00000682965.1:c.*747A>T	ENSP00000508229.1:n.*747A>T
ENST00000683093.1:n.5606+352A>T
ENST00000683136.1:c.4208A>T	ENSP00000507768.1:p.Glu1403Val
ENST00000683153.1:n.4582A>T
ENST00000683365.1:n.4642A>T
ENST00000683377.1:n.4522+352A>T
ENST00000683456.1:c.*1462A>T	ENSP00000508318.1:n.*1462A>T
ENST00000683522.1:n.4540A>T
ENST00000683562.1:c.*2476+352A>T	ENSP00000508265.1:n.*2476+352A>T
ENST00000683693.1:n.6087+352A>T
ENST00000683725.1:c.4307+352A>T	ENSP00000507496.1:n.4307+352A>T
ENST00000684010.1:n.4535A>T
ENST00000684157.1:n.5525A>T
ENST00000684253.1:n.4443A>T
ENST00000684288.1:c.*2497A>T	ENSP00000507143.1:n.*2497A>T
ENST00000684313.1:n.3972A>T
ENST00000684332.1:n.4613A>T
ENST00000684371.1:n.4646A>T
ENST00000684404.1:n.5568A>T
ENST00000684442.1:n.4764A>T
ENST00000684555.1:c.*2537A>T	ENSP00000507705.1:n.*2537A>T
ENST00000684571.1:c.4166A>T	ENSP00000506935.1:p.Glu1389Val
ENST00000684593.1:c.*4030A>T	ENSP00000507005.1:n.*4030A>T
ENST00000684711.1:c.*2721A>T	ENSP00000506841.1:n.*2721A>T
XM_011520331.1:c.4325A>T	XP_011518633.1:p.Glu1442Val
XM_011520332.1:c.4310+352A>T	XP_011518634.1:n.4310+352A>T
XM_011520333.1:c.2825A>T	XP_011518635.1:p.Glu942Val
XM_017018197.2:c.4394A>T	XP_016873686.1:p.Glu1465Val
XM_017018199.1:c.4391A>T	XP_016873688.1:p.Glu1464Val
XM_017018201.2:c.4376+352A>T	XP_016873690.1:n.4376+352A>T
XM_017018202.1:c.2891A>T	XP_016873691.1:p.Glu964Val
XM_017018204.1:c.2282A>T	XP_016873693.1:p.Glu761Val
XM_024448668.1:c.2693A>T	XP_024304436.1:p.Glu898Val
XR_001747945.2:n.4448+352A>T
XR_001747946.2:n.4379+352A>T
XR_002957189.1:n.6162+352A>T
XR_930890.1:n.4373+352A>T