Canonical Allele Identifier: CA379790893

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418551A>G (hg19) ; chr11:g.17397004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397004A>G , CM000673.2:g.17397004A>G	GRCh38
NC_000011.9:g.17418551A>G , CM000673.1:g.17418551A>G	GRCh37
NC_000011.8:g.17375127A>G	NCBI36
NG_008867.1:g.84899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3632T>C
ENST00000528374.2:c.622T>C
ENST00000529967.6:n.2370T>C
ENST00000532220.2:n.2279T>C
ENST00000642611.2:n.4246T>C
ENST00000644057.2:n.474T>C
ENST00000645004.2:n.1530T>C
ENST00000682051.1:n.4193T>C
ENST00000682110.1:n.4246T>C
ENST00000682140.1:c.3985+189T>C	ENSP00000507829.1:n.3985+189T>C
ENST00000682185.1:n.5336T>C
ENST00000682204.1:c.*2169T>C	ENSP00000507094.1:n.*2169T>C
ENST00000682215.1:n.4613T>C
ENST00000682288.1:c.*2462T>C	ENSP00000507506.1:n.*2462T>C
ENST00000682442.1:n.4466T>C
ENST00000682528.1:n.4323T>C
ENST00000682673.1:n.4190T>C
ENST00000682805.1:n.4613T>C
ENST00000682965.1:c.*453T>C	ENSP00000508229.1:n.*453T>C
ENST00000683093.1:n.4345T>C
ENST00000683136.1:c.3914T>C	ENSP00000507768.1:p.Ile1305Thr
ENST00000683153.1:n.4288T>C
ENST00000683365.1:n.4348T>C
ENST00000683377.1:n.4246T>C
ENST00000683456.1:c.*1168T>C	ENSP00000508318.1:n.*1168T>C
ENST00000683522.1:n.4246T>C
ENST00000683562.1:c.*2200T>C	ENSP00000508265.1:n.*2200T>C
ENST00000683693.1:n.4693T>C
ENST00000683725.1:c.4031T>C	ENSP00000507496.1:p.Ile1344Thr
ENST00000684010.1:n.4241T>C
ENST00000684157.1:n.4246T>C
ENST00000684253.1:n.4149T>C
ENST00000684288.1:c.*2203T>C	ENSP00000507143.1:n.*2203T>C
ENST00000684313.1:n.3678T>C
ENST00000684332.1:n.4319T>C
ENST00000684371.1:n.4352T>C
ENST00000684404.1:n.4289T>C
ENST00000684442.1:n.4470T>C
ENST00000684555.1:c.*2243T>C	ENSP00000507705.1:n.*2243T>C
ENST00000684571.1:c.3872T>C	ENSP00000506935.1:p.Ile1291Thr
ENST00000684593.1:c.*3736T>C	ENSP00000507005.1:n.*3736T>C
ENST00000684711.1:c.*2427T>C	ENSP00000506841.1:n.*2427T>C
ENST00000302539.9:c.4034T>C	ENSP00000303960.4:p.Ile1345Thr
ENST00000389817.8:c.4031T>C MANE Select	ENSP00000374467.4:p.Ile1344Thr
ENST00000642271.1:c.4028T>C	ENSP00000493749.1:p.Ile1343Thr
ENST00000642579.1:c.2085T>C
ENST00000642611.1:n.4131T>C
ENST00000642902.1:c.3813T>C
ENST00000643260.1:c.4031T>C	ENSP00000494450.1:p.Ile1344Thr
ENST00000643562.1:c.*2153T>C	ENSP00000496124.1:n.*2153T>C
ENST00000643925.1:c.2671T>C
ENST00000644057.1:n.108T>C
ENST00000644484.1:c.*2432T>C	ENSP00000493558.1:n.*2432T>C
ENST00000644675.1:c.*2203T>C	ENSP00000494567.1:n.*2203T>C
ENST00000644757.1:c.*2462T>C	ENSP00000495085.1:n.*2462T>C
ENST00000644772.1:c.4097T>C	ENSP00000494321.1:p.Ile1366Thr
ENST00000645004.1:n.1686T>C
ENST00000645076.1:c.3230T>C
ENST00000645417.1:c.1219T>C
ENST00000645744.1:c.*2811T>C	ENSP00000494564.1:n.*2811T>C
ENST00000645760.1:c.4452T>C
ENST00000645884.1:c.*1314T>C	ENSP00000495516.1:n.*1314T>C
ENST00000646003.1:c.*2133T>C	ENSP00000495259.1:n.*2133T>C
ENST00000646207.1:c.*2868T>C	ENSP00000495025.1:n.*2868T>C
ENST00000646276.1:c.*2450T>C	ENSP00000496070.1:n.*2450T>C
ENST00000646592.1:c.3337T>C
ENST00000646902.1:c.3998T>C	ENSP00000494101.1:p.Ile1333Thr
ENST00000646993.1:c.*2573T>C	ENSP00000493720.1:n.*2573T>C
ENST00000647013.1:c.4037T>C	ENSP00000496741.1:n.4037T>C
ENST00000647015.1:c.3782T>C	ENSP00000495389.1:p.Ile1261Thr
ENST00000647086.1:c.*3617T>C	ENSP00000493677.1:n.*3617T>C
ENST00000647158.1:c.*2318T>C	ENSP00000495744.1:n.*2318T>C
ENST00000302539.8:c.4034T>C	ENSP00000303960.4:p.Ile1345Thr
ENST00000389817.7:c.4031T>C	ENSP00000374467.3:p.Ile1344Thr
ENST00000527905.5:c.*1053T>C	ENSP00000431653.1:n.*1053T>C
ENST00000528374.1:c.513T>C
ENST00000531137.1:n.596T>C
ENST00000531891.1:c.369T>C
ENST00000532220.1:n.505T>C
NM_000352.4:c.4031T>C	NP_000343.2:p.Ile1344Thr
NM_001287174.1:c.4034T>C	NP_001274103.1:p.Ile1345Thr
XM_011520331.1:c.4031T>C	XP_011518633.1:p.Ile1344Thr
XM_011520332.1:c.4034T>C	XP_011518634.1:p.Ile1345Thr
XM_011520333.1:c.2531T>C	XP_011518635.1:p.Ile844Thr
XR_930890.1:n.4097T>C
NM_001351295.1:c.4097T>C	NP_001338224.1:p.Ile1366Thr
NM_001351296.1:c.4031T>C	NP_001338225.1:p.Ile1344Thr
NM_001351297.1:c.4028T>C	NP_001338226.1:p.Ile1343Thr
NR_147094.1:n.4326T>C
XM_017018197.2:c.4100T>C	XP_016873686.1:p.Ile1367Thr
XM_017018199.1:c.4097T>C	XP_016873688.1:p.Ile1366Thr
XM_017018201.2:c.4100T>C	XP_016873690.1:p.Ile1367Thr
XM_017018202.1:c.2597T>C	XP_016873691.1:p.Ile866Thr
XM_017018204.1:c.1988T>C	XP_016873693.1:p.Ile663Thr
XM_024448668.1:c.2399T>C	XP_024304436.1:p.Ile800Thr
XR_001747945.2:n.4172T>C
XR_001747946.2:n.4103T>C
XR_002957189.1:n.4768T>C
NM_000352.6:c.4031T>C MANE Select	NP_000343.2:p.Ile1344Thr
NM_001287174.2:c.4034T>C	NP_001274103.1:p.Ile1345Thr
NM_001351295.2:c.4097T>C	NP_001338224.1:p.Ile1366Thr
NM_001351296.2:c.4031T>C	NP_001338225.1:p.Ile1344Thr
NM_001351297.2:c.4028T>C	NP_001338226.1:p.Ile1343Thr
NR_147094.2:n.4326T>C
NM_001287174.3:c.4034T>C	NP_001274103.1:p.Ile1345Thr