Canonical Allele Identifier: CA379790525

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418509T>G (hg19) ; chr11:g.17396962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396962T>G , CM000673.2:g.17396962T>G	GRCh38
NC_000011.9:g.17418509T>G , CM000673.1:g.17418509T>G	GRCh37
NC_000011.8:g.17375085T>G	NCBI36
NG_008867.1:g.84941A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3674A>C
ENST00000528374.2:c.664A>C
ENST00000529967.6:n.2412A>C
ENST00000532220.2:n.2321A>C
ENST00000642611.2:n.4288A>C
ENST00000644057.2:n.516A>C
ENST00000645004.2:n.1572A>C
ENST00000682051.1:n.4235A>C
ENST00000682110.1:n.4288A>C
ENST00000682140.1:c.3985+231A>C	ENSP00000507829.1:n.3985+231A>C
ENST00000682185.1:n.5378A>C
ENST00000682204.1:c.*2211A>C	ENSP00000507094.1:n.*2211A>C
ENST00000682215.1:n.4655A>C
ENST00000682288.1:c.*2504A>C	ENSP00000507506.1:n.*2504A>C
ENST00000682442.1:n.4508A>C
ENST00000682528.1:n.4365A>C
ENST00000682673.1:n.4232A>C
ENST00000682805.1:n.4655A>C
ENST00000682965.1:c.*495A>C	ENSP00000508229.1:n.*495A>C
ENST00000683093.1:n.4387A>C
ENST00000683136.1:c.3956A>C	ENSP00000507768.1:p.Lys1319Thr
ENST00000683153.1:n.4330A>C
ENST00000683365.1:n.4390A>C
ENST00000683377.1:n.4288A>C
ENST00000683456.1:c.*1210A>C	ENSP00000508318.1:n.*1210A>C
ENST00000683522.1:n.4288A>C
ENST00000683562.1:c.*2242A>C	ENSP00000508265.1:n.*2242A>C
ENST00000683693.1:n.4735A>C
ENST00000683725.1:c.4073A>C	ENSP00000507496.1:p.Lys1358Thr
ENST00000684010.1:n.4283A>C
ENST00000684157.1:n.4288A>C
ENST00000684253.1:n.4191A>C
ENST00000684288.1:c.*2245A>C	ENSP00000507143.1:n.*2245A>C
ENST00000684313.1:n.3720A>C
ENST00000684332.1:n.4361A>C
ENST00000684371.1:n.4394A>C
ENST00000684404.1:n.4331A>C
ENST00000684442.1:n.4512A>C
ENST00000684555.1:c.*2285A>C	ENSP00000507705.1:n.*2285A>C
ENST00000684571.1:c.3914A>C	ENSP00000506935.1:p.Lys1305Thr
ENST00000684593.1:c.*3778A>C	ENSP00000507005.1:n.*3778A>C
ENST00000684711.1:c.*2469A>C	ENSP00000506841.1:n.*2469A>C
ENST00000302539.9:c.4076A>C	ENSP00000303960.4:p.Lys1359Thr
ENST00000389817.8:c.4073A>C MANE Select	ENSP00000374467.4:p.Lys1358Thr
ENST00000642271.1:c.4070A>C	ENSP00000493749.1:p.Lys1357Thr
ENST00000642579.1:c.2127A>C
ENST00000642611.1:n.4173A>C
ENST00000642902.1:c.3855A>C
ENST00000643260.1:c.4073A>C	ENSP00000494450.1:p.Lys1358Thr
ENST00000643562.1:c.*2195A>C	ENSP00000496124.1:n.*2195A>C
ENST00000643925.1:c.2713A>C
ENST00000644057.1:n.150A>C
ENST00000644484.1:c.*2474A>C	ENSP00000493558.1:n.*2474A>C
ENST00000644675.1:c.*2245A>C	ENSP00000494567.1:n.*2245A>C
ENST00000644757.1:c.*2504A>C	ENSP00000495085.1:n.*2504A>C
ENST00000644772.1:c.4139A>C	ENSP00000494321.1:p.Lys1380Thr
ENST00000645004.1:n.1728A>C
ENST00000645076.1:c.3272A>C
ENST00000645417.1:c.1261A>C
ENST00000645744.1:c.*2853A>C	ENSP00000494564.1:n.*2853A>C
ENST00000645760.1:c.4494A>C
ENST00000645884.1:c.*1356A>C	ENSP00000495516.1:n.*1356A>C
ENST00000646003.1:c.*2175A>C	ENSP00000495259.1:n.*2175A>C
ENST00000646207.1:c.*2910A>C	ENSP00000495025.1:n.*2910A>C
ENST00000646276.1:c.*2492A>C	ENSP00000496070.1:n.*2492A>C
ENST00000646592.1:c.3379A>C
ENST00000646902.1:c.4040A>C	ENSP00000494101.1:p.Lys1347Thr
ENST00000646993.1:c.*2615A>C	ENSP00000493720.1:n.*2615A>C
ENST00000647013.1:c.4079A>C	ENSP00000496741.1:n.4079A>C
ENST00000647015.1:c.3824A>C	ENSP00000495389.1:p.Lys1275Thr
ENST00000647086.1:c.*3659A>C	ENSP00000493677.1:n.*3659A>C
ENST00000647158.1:c.*2360A>C	ENSP00000495744.1:n.*2360A>C
ENST00000302539.8:c.4076A>C	ENSP00000303960.4:p.Lys1359Thr
ENST00000389817.7:c.4073A>C	ENSP00000374467.3:p.Lys1358Thr
ENST00000527905.5:c.*1095A>C	ENSP00000431653.1:n.*1095A>C
ENST00000528374.1:c.555A>C
ENST00000531137.1:n.638A>C
ENST00000531891.1:c.411A>C
ENST00000532220.1:n.547A>C
NM_000352.4:c.4073A>C	NP_000343.2:p.Lys1358Thr
NM_001287174.1:c.4076A>C	NP_001274103.1:p.Lys1359Thr
XM_011520331.1:c.4073A>C	XP_011518633.1:p.Lys1358Thr
XM_011520332.1:c.4076A>C	XP_011518634.1:p.Lys1359Thr
XM_011520333.1:c.2573A>C	XP_011518635.1:p.Lys858Thr
XR_930890.1:n.4139A>C
NM_001351295.1:c.4139A>C	NP_001338224.1:p.Lys1380Thr
NM_001351296.1:c.4073A>C	NP_001338225.1:p.Lys1358Thr
NM_001351297.1:c.4070A>C	NP_001338226.1:p.Lys1357Thr
NR_147094.1:n.4368A>C
XM_017018197.2:c.4142A>C	XP_016873686.1:p.Lys1381Thr
XM_017018199.1:c.4139A>C	XP_016873688.1:p.Lys1380Thr
XM_017018201.2:c.4142A>C	XP_016873690.1:p.Lys1381Thr
XM_017018202.1:c.2639A>C	XP_016873691.1:p.Lys880Thr
XM_017018204.1:c.2030A>C	XP_016873693.1:p.Lys677Thr
XM_024448668.1:c.2441A>C	XP_024304436.1:p.Lys814Thr
XR_001747945.2:n.4214A>C
XR_001747946.2:n.4145A>C
XR_002957189.1:n.4810A>C
NM_000352.6:c.4073A>C MANE Select	NP_000343.2:p.Lys1358Thr
NM_001287174.2:c.4076A>C	NP_001274103.1:p.Lys1359Thr
NM_001351295.2:c.4139A>C	NP_001338224.1:p.Lys1380Thr
NM_001351296.2:c.4073A>C	NP_001338225.1:p.Lys1358Thr
NM_001351297.2:c.4070A>C	NP_001338226.1:p.Lys1357Thr
NR_147094.2:n.4368A>C
NM_001287174.3:c.4076A>C	NP_001274103.1:p.Lys1359Thr