Canonical Allele Identifier: CA379782766

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394280-T-C
• MyVariant Identifiers: chr11:g.17415827T>C (hg19) ; chr11:g.17394280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394280T>C , CM000673.2:g.17394280T>C	GRCh38
NC_000011.9:g.17415827T>C , CM000673.1:g.17415827T>C	GRCh37
NC_000011.8:g.17372403T>C	NCBI36
NG_008867.1:g.87623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4132A>G
ENST00000526037.6:n.466A>G
ENST00000528374.2:c.1122A>G
ENST00000529967.6:n.2870A>G
ENST00000532220.2:n.3764A>G
ENST00000642611.2:n.5864A>G
ENST00000644057.2:n.1107A>G
ENST00000645004.2:n.2030A>G
ENST00000682051.1:n.4693A>G
ENST00000682110.1:n.4746A>G
ENST00000682140.1:c.*317A>G	ENSP00000507829.1:n.*317A>G
ENST00000682185.1:n.5836A>G
ENST00000682204.1:c.*2669A>G	ENSP00000507094.1:n.*2669A>G
ENST00000682215.1:n.5113A>G
ENST00000682288.1:c.*2962A>G	ENSP00000507506.1:n.*2962A>G
ENST00000682442.1:n.4966A>G
ENST00000682528.1:n.4823A>G
ENST00000682673.1:n.4690A>G
ENST00000682805.1:n.5151A>G
ENST00000682965.1:c.*953A>G	ENSP00000508229.1:n.*953A>G
ENST00000683093.1:n.5726A>G
ENST00000683136.1:c.4414A>G	ENSP00000507768.1:p.Ile1472Val
ENST00000683153.1:n.4788A>G
ENST00000683365.1:n.4848A>G
ENST00000683377.1:n.4642A>G
ENST00000683456.1:c.*1668A>G	ENSP00000508318.1:n.*1668A>G
ENST00000683522.1:n.4828A>G
ENST00000683562.1:c.*2596A>G	ENSP00000508265.1:n.*2596A>G
ENST00000683693.1:n.6207A>G
ENST00000683725.1:c.4427A>G	ENSP00000507496.1:p.His1476Arg
ENST00000684010.1:n.4741A>G
ENST00000684014.1:n.718A>G
ENST00000684157.1:n.5731A>G
ENST00000684253.1:n.4649A>G
ENST00000684288.1:c.*2703A>G	ENSP00000507143.1:n.*2703A>G
ENST00000684313.1:n.4178A>G
ENST00000684332.1:n.4819A>G
ENST00000684371.1:n.4852A>G
ENST00000684404.1:n.5774A>G
ENST00000684442.1:n.4970A>G
ENST00000684555.1:c.*2743A>G	ENSP00000507705.1:n.*2743A>G
ENST00000684571.1:c.4372A>G	ENSP00000506935.1:p.Ile1458Val
ENST00000684593.1:c.*4236A>G	ENSP00000507005.1:n.*4236A>G
ENST00000684711.1:c.*2927A>G	ENSP00000506841.1:n.*2927A>G
ENST00000302539.9:c.4534A>G	ENSP00000303960.4:p.Ile1512Val
ENST00000389817.8:c.4531A>G MANE Select	ENSP00000374467.4:p.Ile1511Val
ENST00000642271.1:c.4528A>G	ENSP00000493749.1:p.Ile1510Val
ENST00000642579.1:c.2585A>G
ENST00000642611.1:n.5749A>G
ENST00000642902.1:c.4313A>G
ENST00000643260.1:c.4531A>G	ENSP00000494450.1:p.Ile1511Val
ENST00000643562.1:c.*2653A>G	ENSP00000496124.1:n.*2653A>G
ENST00000643925.1:c.3171A>G
ENST00000644057.1:n.690A>G
ENST00000644484.1:c.*3917A>G	ENSP00000493558.1:n.*3917A>G
ENST00000644675.1:c.*2703A>G	ENSP00000494567.1:n.*2703A>G
ENST00000644757.1:c.*3203-1300A>G	ENSP00000495085.1:n.*3203-1300A>G
ENST00000644772.1:c.4597A>G	ENSP00000494321.1:p.Ile1533Val
ENST00000645004.1:n.2224A>G
ENST00000645076.1:c.3626A>G
ENST00000645417.1:c.1719A>G
ENST00000645744.1:c.*4216A>G	ENSP00000494564.1:n.*4216A>G
ENST00000645760.1:c.4952A>G
ENST00000645884.1:c.*1814A>G	ENSP00000495516.1:n.*1814A>G
ENST00000646003.1:c.*2553A>G	ENSP00000495259.1:n.*2553A>G
ENST00000646207.1:c.*3368A>G	ENSP00000495025.1:n.*3368A>G
ENST00000646276.1:c.*3935A>G	ENSP00000496070.1:n.*3935A>G
ENST00000646592.1:c.3837A>G
ENST00000646902.1:c.4498A>G	ENSP00000494101.1:p.Ile1500Val
ENST00000646993.1:c.*2969A>G	ENSP00000493720.1:n.*2969A>G
ENST00000647015.1:c.4282A>G	ENSP00000495389.1:p.Ile1428Val
ENST00000647086.1:c.*4117A>G	ENSP00000493677.1:n.*4117A>G
ENST00000647158.1:c.*2818A>G	ENSP00000495744.1:n.*2818A>G
ENST00000302539.8:c.4534A>G	ENSP00000303960.4:p.Ile1512Val
ENST00000389817.7:c.4531A>G	ENSP00000374467.3:p.Ile1511Val
ENST00000525022.1:n.426A>G
ENST00000526037.5:n.291A>G
ENST00000526168.5:c.319A>G
ENST00000531642.5:c.562A>G
NM_000352.4:c.4531A>G	NP_000343.2:p.Ile1511Val
NM_001287174.1:c.4534A>G	NP_001274103.1:p.Ile1512Val
XM_011520331.1:c.4531A>G	XP_011518633.1:p.Ile1511Val
XM_011520332.1:c.4430A>G	XP_011518634.1:p.His1477Arg
XM_011520333.1:c.3031A>G	XP_011518635.1:p.Ile1011Val
XR_930890.1:n.4493A>G
NM_001351295.1:c.4597A>G	NP_001338224.1:p.Ile1533Val
NM_001351296.1:c.4531A>G	NP_001338225.1:p.Ile1511Val
NM_001351297.1:c.4528A>G	NP_001338226.1:p.Ile1510Val
NR_147094.1:n.4826A>G
XM_017018197.2:c.4600A>G	XP_016873686.1:p.Ile1534Val
XM_017018199.1:c.4597A>G	XP_016873688.1:p.Ile1533Val
XM_017018201.2:c.4496A>G	XP_016873690.1:p.His1499Arg
XM_017018202.1:c.3097A>G	XP_016873691.1:p.Ile1033Val
XM_017018204.1:c.2488A>G	XP_016873693.1:p.Ile830Val
XM_024448668.1:c.2899A>G	XP_024304436.1:p.Ile967Val
XR_001747945.2:n.4568A>G
XR_001747946.2:n.4499A>G
XR_002957189.1:n.6282A>G
NM_000352.6:c.4531A>G MANE Select	NP_000343.2:p.Ile1511Val
NM_001287174.2:c.4534A>G	NP_001274103.1:p.Ile1512Val
NM_001351295.2:c.4597A>G	NP_001338224.1:p.Ile1533Val
NM_001351296.2:c.4531A>G	NP_001338225.1:p.Ile1511Val
NM_001351297.2:c.4528A>G	NP_001338226.1:p.Ile1510Val
NR_147094.2:n.4826A>G
NM_001287174.3:c.4534A>G	NP_001274103.1:p.Ile1512Val