Canonical Allele Identifier: CA379790396

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396947-T-G
• MyVariant Identifiers: chr11:g.17418494T>G (hg19) ; chr11:g.17396947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396947T>G , CM000673.2:g.17396947T>G	GRCh38
NC_000011.9:g.17418494T>G , CM000673.1:g.17418494T>G	GRCh37
NC_000011.8:g.17375070T>G	NCBI36
NG_008867.1:g.84956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3689A>C
ENST00000528374.2:c.679A>C
ENST00000529967.6:n.2427A>C
ENST00000532220.2:n.2336A>C
ENST00000642611.2:n.4303A>C
ENST00000644057.2:n.531A>C
ENST00000645004.2:n.1587A>C
ENST00000682051.1:n.4250A>C
ENST00000682110.1:n.4303A>C
ENST00000682140.1:c.3985+246A>C	ENSP00000507829.1:n.3985+246A>C
ENST00000682185.1:n.5393A>C
ENST00000682204.1:c.*2226A>C	ENSP00000507094.1:n.*2226A>C
ENST00000682215.1:n.4670A>C
ENST00000682288.1:c.*2519A>C	ENSP00000507506.1:n.*2519A>C
ENST00000682442.1:n.4523A>C
ENST00000682528.1:n.4380A>C
ENST00000682673.1:n.4247A>C
ENST00000682805.1:n.4670A>C
ENST00000682965.1:c.*510A>C	ENSP00000508229.1:n.*510A>C
ENST00000683093.1:n.4402A>C
ENST00000683136.1:c.3971A>C	ENSP00000507768.1:p.His1324Pro
ENST00000683153.1:n.4345A>C
ENST00000683365.1:n.4405A>C
ENST00000683377.1:n.4303A>C
ENST00000683456.1:c.*1225A>C	ENSP00000508318.1:n.*1225A>C
ENST00000683522.1:n.4303A>C
ENST00000683562.1:c.*2257A>C	ENSP00000508265.1:n.*2257A>C
ENST00000683693.1:n.4750A>C
ENST00000683725.1:c.4088A>C	ENSP00000507496.1:p.His1363Pro
ENST00000684010.1:n.4298A>C
ENST00000684157.1:n.4303A>C
ENST00000684253.1:n.4206A>C
ENST00000684288.1:c.*2260A>C	ENSP00000507143.1:n.*2260A>C
ENST00000684313.1:n.3735A>C
ENST00000684332.1:n.4376A>C
ENST00000684371.1:n.4409A>C
ENST00000684404.1:n.4346A>C
ENST00000684442.1:n.4527A>C
ENST00000684555.1:c.*2300A>C	ENSP00000507705.1:n.*2300A>C
ENST00000684571.1:c.3929A>C	ENSP00000506935.1:p.His1310Pro
ENST00000684593.1:c.*3793A>C	ENSP00000507005.1:n.*3793A>C
ENST00000684711.1:c.*2484A>C	ENSP00000506841.1:n.*2484A>C
ENST00000302539.9:c.4091A>C	ENSP00000303960.4:p.His1364Pro
ENST00000389817.8:c.4088A>C MANE Select	ENSP00000374467.4:p.His1363Pro
ENST00000642271.1:c.4085A>C	ENSP00000493749.1:p.His1362Pro
ENST00000642579.1:c.2142A>C
ENST00000642611.1:n.4188A>C
ENST00000642902.1:c.3870A>C
ENST00000643260.1:c.4088A>C	ENSP00000494450.1:p.His1363Pro
ENST00000643562.1:c.*2210A>C	ENSP00000496124.1:n.*2210A>C
ENST00000643925.1:c.2728A>C
ENST00000644057.1:n.165A>C
ENST00000644484.1:c.*2489A>C	ENSP00000493558.1:n.*2489A>C
ENST00000644675.1:c.*2260A>C	ENSP00000494567.1:n.*2260A>C
ENST00000644757.1:c.*2519A>C	ENSP00000495085.1:n.*2519A>C
ENST00000644772.1:c.4154A>C	ENSP00000494321.1:p.His1385Pro
ENST00000645004.1:n.1743A>C
ENST00000645076.1:c.3287A>C
ENST00000645417.1:c.1276A>C
ENST00000645744.1:c.*2868A>C	ENSP00000494564.1:n.*2868A>C
ENST00000645760.1:c.4509A>C
ENST00000645884.1:c.*1371A>C	ENSP00000495516.1:n.*1371A>C
ENST00000646003.1:c.*2190A>C	ENSP00000495259.1:n.*2190A>C
ENST00000646207.1:c.*2925A>C	ENSP00000495025.1:n.*2925A>C
ENST00000646276.1:c.*2507A>C	ENSP00000496070.1:n.*2507A>C
ENST00000646592.1:c.3394A>C
ENST00000646902.1:c.4055A>C	ENSP00000494101.1:p.His1352Pro
ENST00000646993.1:c.*2630A>C	ENSP00000493720.1:n.*2630A>C
ENST00000647013.1:c.4094A>C	ENSP00000496741.1:n.4094A>C
ENST00000647015.1:c.3839A>C	ENSP00000495389.1:p.His1280Pro
ENST00000647086.1:c.*3674A>C	ENSP00000493677.1:n.*3674A>C
ENST00000647158.1:c.*2375A>C	ENSP00000495744.1:n.*2375A>C
ENST00000302539.8:c.4091A>C	ENSP00000303960.4:p.His1364Pro
ENST00000389817.7:c.4088A>C	ENSP00000374467.3:p.His1363Pro
ENST00000527905.5:c.*1110A>C	ENSP00000431653.1:n.*1110A>C
ENST00000528374.1:c.570A>C
ENST00000531137.1:n.653A>C
ENST00000531891.1:c.426A>C
ENST00000532220.1:n.562A>C
NM_000352.4:c.4088A>C	NP_000343.2:p.His1363Pro
NM_001287174.1:c.4091A>C	NP_001274103.1:p.His1364Pro
XM_011520331.1:c.4088A>C	XP_011518633.1:p.His1363Pro
XM_011520332.1:c.4091A>C	XP_011518634.1:p.His1364Pro
XM_011520333.1:c.2588A>C	XP_011518635.1:p.His863Pro
XR_930890.1:n.4154A>C
NM_001351295.1:c.4154A>C	NP_001338224.1:p.His1385Pro
NM_001351296.1:c.4088A>C	NP_001338225.1:p.His1363Pro
NM_001351297.1:c.4085A>C	NP_001338226.1:p.His1362Pro
NR_147094.1:n.4383A>C
XM_017018197.2:c.4157A>C	XP_016873686.1:p.His1386Pro
XM_017018199.1:c.4154A>C	XP_016873688.1:p.His1385Pro
XM_017018201.2:c.4157A>C	XP_016873690.1:p.His1386Pro
XM_017018202.1:c.2654A>C	XP_016873691.1:p.His885Pro
XM_017018204.1:c.2045A>C	XP_016873693.1:p.His682Pro
XM_024448668.1:c.2456A>C	XP_024304436.1:p.His819Pro
XR_001747945.2:n.4229A>C
XR_001747946.2:n.4160A>C
XR_002957189.1:n.4825A>C
NM_000352.6:c.4088A>C MANE Select	NP_000343.2:p.His1363Pro
NM_001287174.2:c.4091A>C	NP_001274103.1:p.His1364Pro
NM_001351295.2:c.4154A>C	NP_001338224.1:p.His1385Pro
NM_001351296.2:c.4088A>C	NP_001338225.1:p.His1363Pro
NM_001351297.2:c.4085A>C	NP_001338226.1:p.His1362Pro
NR_147094.2:n.4383A>C
NM_001287174.3:c.4091A>C	NP_001274103.1:p.His1364Pro