Canonical Allele Identifier: CA379782834

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415840C>G (hg19) ; chr11:g.17394293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394293C>G , CM000673.2:g.17394293C>G	GRCh38
NC_000011.9:g.17415840C>G , CM000673.1:g.17415840C>G	GRCh37
NC_000011.8:g.17372416C>G	NCBI36
NG_008867.1:g.87610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4119G>C
ENST00000526037.6:n.453G>C
ENST00000528374.2:c.1109G>C
ENST00000529967.6:n.2857G>C
ENST00000532220.2:n.3751G>C
ENST00000642611.2:n.5851G>C
ENST00000644057.2:n.1094G>C
ENST00000645004.2:n.2017G>C
ENST00000682051.1:n.4680G>C
ENST00000682110.1:n.4733G>C
ENST00000682140.1:c.*304G>C	ENSP00000507829.1:n.*304G>C
ENST00000682185.1:n.5823G>C
ENST00000682204.1:c.*2656G>C	ENSP00000507094.1:n.*2656G>C
ENST00000682215.1:n.5100G>C
ENST00000682288.1:c.*2949G>C	ENSP00000507506.1:n.*2949G>C
ENST00000682442.1:n.4953G>C
ENST00000682528.1:n.4810G>C
ENST00000682673.1:n.4677G>C
ENST00000682805.1:n.5138G>C
ENST00000682965.1:c.*940G>C	ENSP00000508229.1:n.*940G>C
ENST00000683093.1:n.5713G>C
ENST00000683136.1:c.4401G>C	ENSP00000507768.1:p.Glu1467Asp
ENST00000683153.1:n.4775G>C
ENST00000683365.1:n.4835G>C
ENST00000683377.1:n.4629G>C
ENST00000683456.1:c.*1655G>C	ENSP00000508318.1:n.*1655G>C
ENST00000683522.1:n.4815G>C
ENST00000683562.1:c.*2583G>C	ENSP00000508265.1:n.*2583G>C
ENST00000683693.1:n.6194G>C
ENST00000683725.1:c.4414G>C	ENSP00000507496.1:p.Gly1472Arg
ENST00000684010.1:n.4728G>C
ENST00000684014.1:n.705G>C
ENST00000684157.1:n.5718G>C
ENST00000684253.1:n.4636G>C
ENST00000684288.1:c.*2690G>C	ENSP00000507143.1:n.*2690G>C
ENST00000684313.1:n.4165G>C
ENST00000684332.1:n.4806G>C
ENST00000684371.1:n.4839G>C
ENST00000684404.1:n.5761G>C
ENST00000684442.1:n.4957G>C
ENST00000684555.1:c.*2730G>C	ENSP00000507705.1:n.*2730G>C
ENST00000684571.1:c.4359G>C	ENSP00000506935.1:p.Glu1453Asp
ENST00000684593.1:c.*4223G>C	ENSP00000507005.1:n.*4223G>C
ENST00000684711.1:c.*2914G>C	ENSP00000506841.1:n.*2914G>C
ENST00000302539.9:c.4521G>C	ENSP00000303960.4:p.Glu1507Asp
ENST00000389817.8:c.4518G>C MANE Select	ENSP00000374467.4:p.Glu1506Asp
ENST00000642271.1:c.4515G>C	ENSP00000493749.1:p.Glu1505Asp
ENST00000642579.1:c.2572G>C
ENST00000642611.1:n.5736G>C
ENST00000642902.1:c.4300G>C
ENST00000643260.1:c.4518G>C	ENSP00000494450.1:p.Glu1506Asp
ENST00000643562.1:c.*2640G>C	ENSP00000496124.1:n.*2640G>C
ENST00000643925.1:c.3158G>C
ENST00000644057.1:n.677G>C
ENST00000644484.1:c.*3904G>C	ENSP00000493558.1:n.*3904G>C
ENST00000644675.1:c.*2690G>C	ENSP00000494567.1:n.*2690G>C
ENST00000644757.1:c.*3203-1313G>C	ENSP00000495085.1:n.*3203-1313G>C
ENST00000644772.1:c.4584G>C	ENSP00000494321.1:p.Glu1528Asp
ENST00000645004.1:n.2211G>C
ENST00000645076.1:c.3613G>C
ENST00000645417.1:c.1706G>C
ENST00000645744.1:c.*4203G>C	ENSP00000494564.1:n.*4203G>C
ENST00000645760.1:c.4939G>C
ENST00000645884.1:c.*1801G>C	ENSP00000495516.1:n.*1801G>C
ENST00000646003.1:c.*2540G>C	ENSP00000495259.1:n.*2540G>C
ENST00000646207.1:c.*3355G>C	ENSP00000495025.1:n.*3355G>C
ENST00000646276.1:c.*3922G>C	ENSP00000496070.1:n.*3922G>C
ENST00000646592.1:c.3824G>C
ENST00000646902.1:c.4485G>C	ENSP00000494101.1:p.Glu1495Asp
ENST00000646993.1:c.*2956G>C	ENSP00000493720.1:n.*2956G>C
ENST00000647013.1:c.4524G>C	ENSP00000496741.1:n.4524G>C
ENST00000647015.1:c.4269G>C	ENSP00000495389.1:p.Glu1423Asp
ENST00000647086.1:c.*4104G>C	ENSP00000493677.1:n.*4104G>C
ENST00000647158.1:c.*2805G>C	ENSP00000495744.1:n.*2805G>C
ENST00000302539.8:c.4521G>C	ENSP00000303960.4:p.Glu1507Asp
ENST00000389817.7:c.4518G>C	ENSP00000374467.3:p.Glu1506Asp
ENST00000525022.1:n.413G>C
ENST00000526037.5:n.278G>C
ENST00000526168.5:c.306G>C
ENST00000531642.5:c.549G>C
NM_000352.4:c.4518G>C	NP_000343.2:p.Glu1506Asp
NM_001287174.1:c.4521G>C	NP_001274103.1:p.Glu1507Asp
XM_011520331.1:c.4518G>C	XP_011518633.1:p.Glu1506Asp
XM_011520332.1:c.4417G>C	XP_011518634.1:p.Gly1473Arg
XM_011520333.1:c.3018G>C	XP_011518635.1:p.Glu1006Asp
XR_930890.1:n.4480G>C
NM_001351295.1:c.4584G>C	NP_001338224.1:p.Glu1528Asp
NM_001351296.1:c.4518G>C	NP_001338225.1:p.Glu1506Asp
NM_001351297.1:c.4515G>C	NP_001338226.1:p.Glu1505Asp
NR_147094.1:n.4813G>C
XM_017018197.2:c.4587G>C	XP_016873686.1:p.Glu1529Asp
XM_017018199.1:c.4584G>C	XP_016873688.1:p.Glu1528Asp
XM_017018201.2:c.4483G>C	XP_016873690.1:p.Gly1495Arg
XM_017018202.1:c.3084G>C	XP_016873691.1:p.Glu1028Asp
XM_017018204.1:c.2475G>C	XP_016873693.1:p.Glu825Asp
XM_024448668.1:c.2886G>C	XP_024304436.1:p.Glu962Asp
XR_001747945.2:n.4555G>C
XR_001747946.2:n.4486G>C
XR_002957189.1:n.6269G>C
NM_000352.6:c.4518G>C MANE Select	NP_000343.2:p.Glu1506Asp
NM_001287174.2:c.4521G>C	NP_001274103.1:p.Glu1507Asp
NM_001351295.2:c.4584G>C	NP_001338224.1:p.Glu1528Asp
NM_001351296.2:c.4518G>C	NP_001338225.1:p.Glu1506Asp
NM_001351297.2:c.4515G>C	NP_001338226.1:p.Glu1505Asp
NR_147094.2:n.4813G>C
NM_001287174.3:c.4521G>C	NP_001274103.1:p.Glu1507Asp