Canonical Allele Identifier: CA218407642

Gene: ABCC8

Linked Data

• dbSNP Id: rs973834445
• MyVariant Identifiers: chr11:g.17416802C>T (hg19) ; chr11:g.17395255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395255C>T , CM000673.2:g.17395255C>T	GRCh38
NC_000011.9:g.17416802C>T , CM000673.1:g.17416802C>T	GRCh37
NC_000011.8:g.17373378C>T	NCBI36
NG_008867.1:g.86648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3929G>A
ENST00000526037.6:n.263G>A
ENST00000528374.2:c.919G>A
ENST00000529967.6:n.2667G>A
ENST00000532220.2:n.3561G>A
ENST00000642611.2:n.5661G>A
ENST00000644057.2:n.904G>A
ENST00000645004.2:n.1827G>A
ENST00000682051.1:n.4490G>A
ENST00000682110.1:n.4543G>A
ENST00000682140.1:c.*114G>A	ENSP00000507829.1:n.*114G>A
ENST00000682185.1:n.5633G>A
ENST00000682204.1:c.*2466G>A	ENSP00000507094.1:n.*2466G>A
ENST00000682215.1:n.4910G>A
ENST00000682288.1:c.*2759G>A	ENSP00000507506.1:n.*2759G>A
ENST00000682442.1:n.4763G>A
ENST00000682528.1:n.4620G>A
ENST00000682673.1:n.4487G>A
ENST00000682805.1:n.4948G>A
ENST00000682965.1:c.*750G>A	ENSP00000508229.1:n.*750G>A
ENST00000683093.1:n.5606+355G>A
ENST00000683136.1:c.4211G>A	ENSP00000507768.1:p.Arg1404Lys
ENST00000683153.1:n.4585G>A
ENST00000683365.1:n.4645G>A
ENST00000683377.1:n.4522+355G>A
ENST00000683456.1:c.*1465G>A	ENSP00000508318.1:n.*1465G>A
ENST00000683522.1:n.4543G>A
ENST00000683562.1:c.*2476+355G>A	ENSP00000508265.1:n.*2476+355G>A
ENST00000683693.1:n.6087+355G>A
ENST00000683725.1:c.4307+355G>A	ENSP00000507496.1:n.4307+355G>A
ENST00000684010.1:n.4538G>A
ENST00000684157.1:n.5528G>A
ENST00000684253.1:n.4446G>A
ENST00000684288.1:c.*2500G>A	ENSP00000507143.1:n.*2500G>A
ENST00000684313.1:n.3975G>A
ENST00000684332.1:n.4616G>A
ENST00000684371.1:n.4649G>A
ENST00000684404.1:n.5571G>A
ENST00000684442.1:n.4767G>A
ENST00000684555.1:c.*2540G>A	ENSP00000507705.1:n.*2540G>A
ENST00000684571.1:c.4169G>A	ENSP00000506935.1:p.Arg1390Lys
ENST00000684593.1:c.*4033G>A	ENSP00000507005.1:n.*4033G>A
ENST00000684711.1:c.*2724G>A	ENSP00000506841.1:n.*2724G>A
ENST00000302539.9:c.4331G>A	ENSP00000303960.4:p.Arg1444Lys
ENST00000389817.8:c.4328G>A MANE Select	ENSP00000374467.4:p.Arg1443Lys
ENST00000642271.1:c.4325G>A	ENSP00000493749.1:p.Arg1442Lys
ENST00000642579.1:c.2382G>A
ENST00000642611.1:n.5546G>A
ENST00000642902.1:c.4110G>A
ENST00000643260.1:c.4328G>A	ENSP00000494450.1:p.Arg1443Lys
ENST00000643562.1:c.*2450G>A	ENSP00000496124.1:n.*2450G>A
ENST00000643925.1:c.2968G>A
ENST00000644057.1:n.405G>A
ENST00000644484.1:c.*3714G>A	ENSP00000493558.1:n.*3714G>A
ENST00000644675.1:c.*2500G>A	ENSP00000494567.1:n.*2500G>A
ENST00000644757.1:c.*3202+1009G>A	ENSP00000495085.1:n.*3202+1009G>A
ENST00000644772.1:c.4394G>A	ENSP00000494321.1:p.Arg1465Lys
ENST00000645004.1:n.2021G>A
ENST00000645076.1:c.3506+355G>A
ENST00000645417.1:c.1516G>A
ENST00000645744.1:c.*4013G>A	ENSP00000494564.1:n.*4013G>A
ENST00000645760.1:c.4749G>A
ENST00000645884.1:c.*1611G>A	ENSP00000495516.1:n.*1611G>A
ENST00000646003.1:c.*2350G>A	ENSP00000495259.1:n.*2350G>A
ENST00000646207.1:c.*3165G>A	ENSP00000495025.1:n.*3165G>A
ENST00000646276.1:c.*3732G>A	ENSP00000496070.1:n.*3732G>A
ENST00000646592.1:c.3634G>A
ENST00000646902.1:c.4295G>A	ENSP00000494101.1:p.Arg1432Lys
ENST00000646993.1:c.*2849+355G>A	ENSP00000493720.1:n.*2849+355G>A
ENST00000647013.1:c.4334G>A	ENSP00000496741.1:n.4334G>A
ENST00000647015.1:c.4079G>A	ENSP00000495389.1:p.Arg1360Lys
ENST00000647086.1:c.*3914G>A	ENSP00000493677.1:n.*3914G>A
ENST00000647158.1:c.*2615G>A	ENSP00000495744.1:n.*2615G>A
ENST00000302539.8:c.4331G>A	ENSP00000303960.4:p.Arg1444Lys
ENST00000389817.7:c.4328G>A	ENSP00000374467.3:p.Arg1443Lys
ENST00000525022.1:n.306+355G>A
ENST00000526037.5:n.171+355G>A
ENST00000526168.5:c.116G>A
ENST00000531642.5:c.359G>A
NM_000352.4:c.4328G>A	NP_000343.2:p.Arg1443Lys
NM_001287174.1:c.4331G>A	NP_001274103.1:p.Arg1444Lys
XM_011520331.1:c.4328G>A	XP_011518633.1:p.Arg1443Lys
XM_011520332.1:c.4310+355G>A	XP_011518634.1:n.4310+355G>A
XM_011520333.1:c.2828G>A	XP_011518635.1:p.Arg943Lys
XR_930890.1:n.4373+355G>A
NM_001351295.1:c.4394G>A	NP_001338224.1:p.Arg1465Lys
NM_001351296.1:c.4328G>A	NP_001338225.1:p.Arg1443Lys
NM_001351297.1:c.4325G>A	NP_001338226.1:p.Arg1442Lys
NR_147094.1:n.4623G>A
XM_017018197.2:c.4397G>A	XP_016873686.1:p.Arg1466Lys
XM_017018199.1:c.4394G>A	XP_016873688.1:p.Arg1465Lys
XM_017018201.2:c.4376+355G>A	XP_016873690.1:n.4376+355G>A
XM_017018202.1:c.2894G>A	XP_016873691.1:p.Arg965Lys
XM_017018204.1:c.2285G>A	XP_016873693.1:p.Arg762Lys
XM_024448668.1:c.2696G>A	XP_024304436.1:p.Arg899Lys
XR_001747945.2:n.4448+355G>A
XR_001747946.2:n.4379+355G>A
XR_002957189.1:n.6162+355G>A
NM_000352.6:c.4328G>A MANE Select	NP_000343.2:p.Arg1443Lys
NM_001287174.2:c.4331G>A	NP_001274103.1:p.Arg1444Lys
NM_001351295.2:c.4394G>A	NP_001338224.1:p.Arg1465Lys
NM_001351296.2:c.4328G>A	NP_001338225.1:p.Arg1443Lys
NM_001351297.2:c.4325G>A	NP_001338226.1:p.Arg1442Lys
NR_147094.2:n.4623G>A
NM_001287174.3:c.4331G>A	NP_001274103.1:p.Arg1444Lys