Canonical Allele Identifier: CA379790433

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953962264
• gnomAD v3: 11-17396950-T-C
• gnomAD v4: 11-17396950-T-C
• MyVariant Identifiers: chr11:g.17418497T>C (hg19) ; chr11:g.17396950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396950T>C , CM000673.2:g.17396950T>C	GRCh38
NC_000011.9:g.17418497T>C , CM000673.1:g.17418497T>C	GRCh37
NC_000011.8:g.17375073T>C	NCBI36
NG_008867.1:g.84953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3686A>G
ENST00000528374.2:c.676A>G
ENST00000529967.6:n.2424A>G
ENST00000532220.2:n.2333A>G
ENST00000642611.2:n.4300A>G
ENST00000644057.2:n.528A>G
ENST00000645004.2:n.1584A>G
ENST00000682051.1:n.4247A>G
ENST00000682110.1:n.4300A>G
ENST00000682140.1:c.3985+243A>G	ENSP00000507829.1:n.3985+243A>G
ENST00000682185.1:n.5390A>G
ENST00000682204.1:c.*2223A>G	ENSP00000507094.1:n.*2223A>G
ENST00000682215.1:n.4667A>G
ENST00000682288.1:c.*2516A>G	ENSP00000507506.1:n.*2516A>G
ENST00000682442.1:n.4520A>G
ENST00000682528.1:n.4377A>G
ENST00000682673.1:n.4244A>G
ENST00000682805.1:n.4667A>G
ENST00000682965.1:c.*507A>G	ENSP00000508229.1:n.*507A>G
ENST00000683093.1:n.4399A>G
ENST00000683136.1:c.3968A>G	ENSP00000507768.1:p.Lys1323Arg
ENST00000683153.1:n.4342A>G
ENST00000683365.1:n.4402A>G
ENST00000683377.1:n.4300A>G
ENST00000683456.1:c.*1222A>G	ENSP00000508318.1:n.*1222A>G
ENST00000683522.1:n.4300A>G
ENST00000683562.1:c.*2254A>G	ENSP00000508265.1:n.*2254A>G
ENST00000683693.1:n.4747A>G
ENST00000683725.1:c.4085A>G	ENSP00000507496.1:p.Lys1362Arg
ENST00000684010.1:n.4295A>G
ENST00000684157.1:n.4300A>G
ENST00000684253.1:n.4203A>G
ENST00000684288.1:c.*2257A>G	ENSP00000507143.1:n.*2257A>G
ENST00000684313.1:n.3732A>G
ENST00000684332.1:n.4373A>G
ENST00000684371.1:n.4406A>G
ENST00000684404.1:n.4343A>G
ENST00000684442.1:n.4524A>G
ENST00000684555.1:c.*2297A>G	ENSP00000507705.1:n.*2297A>G
ENST00000684571.1:c.3926A>G	ENSP00000506935.1:p.Lys1309Arg
ENST00000684593.1:c.*3790A>G	ENSP00000507005.1:n.*3790A>G
ENST00000684711.1:c.*2481A>G	ENSP00000506841.1:n.*2481A>G
ENST00000302539.9:c.4088A>G	ENSP00000303960.4:p.Lys1363Arg
ENST00000389817.8:c.4085A>G MANE Select	ENSP00000374467.4:p.Lys1362Arg
ENST00000642271.1:c.4082A>G	ENSP00000493749.1:p.Lys1361Arg
ENST00000642579.1:c.2139A>G
ENST00000642611.1:n.4185A>G
ENST00000642902.1:c.3867A>G
ENST00000643260.1:c.4085A>G	ENSP00000494450.1:p.Lys1362Arg
ENST00000643562.1:c.*2207A>G	ENSP00000496124.1:n.*2207A>G
ENST00000643925.1:c.2725A>G
ENST00000644057.1:n.162A>G
ENST00000644484.1:c.*2486A>G	ENSP00000493558.1:n.*2486A>G
ENST00000644675.1:c.*2257A>G	ENSP00000494567.1:n.*2257A>G
ENST00000644757.1:c.*2516A>G	ENSP00000495085.1:n.*2516A>G
ENST00000644772.1:c.4151A>G	ENSP00000494321.1:p.Lys1384Arg
ENST00000645004.1:n.1740A>G
ENST00000645076.1:c.3284A>G
ENST00000645417.1:c.1273A>G
ENST00000645744.1:c.*2865A>G	ENSP00000494564.1:n.*2865A>G
ENST00000645760.1:c.4506A>G
ENST00000645884.1:c.*1368A>G	ENSP00000495516.1:n.*1368A>G
ENST00000646003.1:c.*2187A>G	ENSP00000495259.1:n.*2187A>G
ENST00000646207.1:c.*2922A>G	ENSP00000495025.1:n.*2922A>G
ENST00000646276.1:c.*2504A>G	ENSP00000496070.1:n.*2504A>G
ENST00000646592.1:c.3391A>G
ENST00000646902.1:c.4052A>G	ENSP00000494101.1:p.Lys1351Arg
ENST00000646993.1:c.*2627A>G	ENSP00000493720.1:n.*2627A>G
ENST00000647013.1:c.4091A>G	ENSP00000496741.1:n.4091A>G
ENST00000647015.1:c.3836A>G	ENSP00000495389.1:p.Lys1279Arg
ENST00000647086.1:c.*3671A>G	ENSP00000493677.1:n.*3671A>G
ENST00000647158.1:c.*2372A>G	ENSP00000495744.1:n.*2372A>G
ENST00000302539.8:c.4088A>G	ENSP00000303960.4:p.Lys1363Arg
ENST00000389817.7:c.4085A>G	ENSP00000374467.3:p.Lys1362Arg
ENST00000527905.5:c.*1107A>G	ENSP00000431653.1:n.*1107A>G
ENST00000528374.1:c.567A>G
ENST00000531137.1:n.650A>G
ENST00000531891.1:c.423A>G
ENST00000532220.1:n.559A>G
NM_000352.4:c.4085A>G	NP_000343.2:p.Lys1362Arg
NM_001287174.1:c.4088A>G	NP_001274103.1:p.Lys1363Arg
XM_011520331.1:c.4085A>G	XP_011518633.1:p.Lys1362Arg
XM_011520332.1:c.4088A>G	XP_011518634.1:p.Lys1363Arg
XM_011520333.1:c.2585A>G	XP_011518635.1:p.Lys862Arg
XR_930890.1:n.4151A>G
NM_001351295.1:c.4151A>G	NP_001338224.1:p.Lys1384Arg
NM_001351296.1:c.4085A>G	NP_001338225.1:p.Lys1362Arg
NM_001351297.1:c.4082A>G	NP_001338226.1:p.Lys1361Arg
NR_147094.1:n.4380A>G
XM_017018197.2:c.4154A>G	XP_016873686.1:p.Lys1385Arg
XM_017018199.1:c.4151A>G	XP_016873688.1:p.Lys1384Arg
XM_017018201.2:c.4154A>G	XP_016873690.1:p.Lys1385Arg
XM_017018202.1:c.2651A>G	XP_016873691.1:p.Lys884Arg
XM_017018204.1:c.2042A>G	XP_016873693.1:p.Lys681Arg
XM_024448668.1:c.2453A>G	XP_024304436.1:p.Lys818Arg
XR_001747945.2:n.4226A>G
XR_001747946.2:n.4157A>G
XR_002957189.1:n.4822A>G
NM_000352.6:c.4085A>G MANE Select	NP_000343.2:p.Lys1362Arg
NM_001287174.2:c.4088A>G	NP_001274103.1:p.Lys1363Arg
NM_001351295.2:c.4151A>G	NP_001338224.1:p.Lys1384Arg
NM_001351296.2:c.4085A>G	NP_001338225.1:p.Lys1362Arg
NM_001351297.2:c.4082A>G	NP_001338226.1:p.Lys1361Arg
NR_147094.2:n.4380A>G
NM_001287174.3:c.4088A>G	NP_001274103.1:p.Lys1363Arg