Canonical Allele Identifier: CA379788215

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417446T>C (hg19) ; chr11:g.17395899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395899T>C , CM000673.2:g.17395899T>C	GRCh38
NC_000011.9:g.17417446T>C , CM000673.1:g.17417446T>C	GRCh37
NC_000011.8:g.17374022T>C	NCBI36
NG_008867.1:g.86004A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3752A>G
ENST00000528374.2:c.742A>G
ENST00000529967.6:n.2490A>G
ENST00000532220.2:n.3384A>G
ENST00000642611.2:n.5351A>G
ENST00000644057.2:n.594A>G
ENST00000645004.2:n.1650A>G
ENST00000682051.1:n.4313A>G
ENST00000682110.1:n.4366A>G
ENST00000682140.1:c.4017A>G	ENSP00000507829.1:p.Glu1339=
ENST00000682185.1:n.5456A>G
ENST00000682204.1:c.*2289A>G	ENSP00000507094.1:n.*2289A>G
ENST00000682215.1:n.4733A>G
ENST00000682288.1:c.*2582A>G	ENSP00000507506.1:n.*2582A>G
ENST00000682442.1:n.4586A>G
ENST00000682528.1:n.4443A>G
ENST00000682673.1:n.4310A>G
ENST00000682805.1:n.4771A>G
ENST00000682965.1:c.*573A>G	ENSP00000508229.1:n.*573A>G
ENST00000683093.1:n.5450A>G
ENST00000683136.1:c.4034A>G	ENSP00000507768.1:p.Lys1345Arg
ENST00000683153.1:n.4408A>G
ENST00000683365.1:n.4468A>G
ENST00000683377.1:n.4366A>G
ENST00000683456.1:c.*1288A>G	ENSP00000508318.1:n.*1288A>G
ENST00000683522.1:n.4366A>G
ENST00000683562.1:c.*2320A>G	ENSP00000508265.1:n.*2320A>G
ENST00000683693.1:n.5798A>G
ENST00000683725.1:c.4151A>G	ENSP00000507496.1:p.Lys1384Arg
ENST00000684010.1:n.4361A>G
ENST00000684157.1:n.5351A>G
ENST00000684253.1:n.4269A>G
ENST00000684288.1:c.*2323A>G	ENSP00000507143.1:n.*2323A>G
ENST00000684313.1:n.3798A>G
ENST00000684332.1:n.4439A>G
ENST00000684371.1:n.4472A>G
ENST00000684404.1:n.5394A>G
ENST00000684442.1:n.4590A>G
ENST00000684555.1:c.*2363A>G	ENSP00000507705.1:n.*2363A>G
ENST00000684571.1:c.3992A>G	ENSP00000506935.1:p.Lys1331Arg
ENST00000684593.1:c.*3856A>G	ENSP00000507005.1:n.*3856A>G
ENST00000684711.1:c.*2547A>G	ENSP00000506841.1:n.*2547A>G
ENST00000302539.9:c.4154A>G	ENSP00000303960.4:p.Lys1385Arg
ENST00000389817.8:c.4151A>G MANE Select	ENSP00000374467.4:p.Lys1384Arg
ENST00000642271.1:c.4148A>G	ENSP00000493749.1:p.Lys1383Arg
ENST00000642579.1:c.2205A>G
ENST00000642611.1:n.5236A>G
ENST00000642902.1:c.3933A>G
ENST00000643260.1:c.4151A>G	ENSP00000494450.1:p.Lys1384Arg
ENST00000643562.1:c.*2273A>G	ENSP00000496124.1:n.*2273A>G
ENST00000643925.1:c.2791A>G
ENST00000644057.1:n.228A>G
ENST00000644484.1:c.*3537A>G	ENSP00000493558.1:n.*3537A>G
ENST00000644675.1:c.*2323A>G	ENSP00000494567.1:n.*2323A>G
ENST00000644757.1:c.*3202+365A>G	ENSP00000495085.1:n.*3202+365A>G
ENST00000644772.1:c.4217A>G	ENSP00000494321.1:p.Lys1406Arg
ENST00000645004.1:n.1844A>G
ENST00000645076.1:c.3350A>G
ENST00000645417.1:c.1339A>G
ENST00000645744.1:c.*3916A>G	ENSP00000494564.1:n.*3916A>G
ENST00000645760.1:c.4572A>G
ENST00000645884.1:c.*1434A>G	ENSP00000495516.1:n.*1434A>G
ENST00000646003.1:c.*2253A>G	ENSP00000495259.1:n.*2253A>G
ENST00000646207.1:c.*2988A>G	ENSP00000495025.1:n.*2988A>G
ENST00000646276.1:c.*3555A>G	ENSP00000496070.1:n.*3555A>G
ENST00000646592.1:c.3457A>G
ENST00000646902.1:c.4118A>G	ENSP00000494101.1:p.Lys1373Arg
ENST00000646993.1:c.*2693A>G	ENSP00000493720.1:n.*2693A>G
ENST00000647013.1:c.4157A>G	ENSP00000496741.1:n.4157A>G
ENST00000647015.1:c.3902A>G	ENSP00000495389.1:p.Lys1301Arg
ENST00000647086.1:c.*3737A>G	ENSP00000493677.1:n.*3737A>G
ENST00000647158.1:c.*2438A>G	ENSP00000495744.1:n.*2438A>G
ENST00000302539.8:c.4154A>G	ENSP00000303960.4:p.Lys1385Arg
ENST00000389817.7:c.4151A>G	ENSP00000374467.3:p.Lys1384Arg
ENST00000525022.1:n.17A>G
ENST00000526168.5:c.19A>G
NM_000352.4:c.4151A>G	NP_000343.2:p.Lys1384Arg
NM_001287174.1:c.4154A>G	NP_001274103.1:p.Lys1385Arg
XM_011520331.1:c.4151A>G	XP_011518633.1:p.Lys1384Arg
XM_011520332.1:c.4154A>G	XP_011518634.1:p.Lys1385Arg
XM_011520333.1:c.2651A>G	XP_011518635.1:p.Lys884Arg
XR_930890.1:n.4217A>G
NM_001351295.1:c.4217A>G	NP_001338224.1:p.Lys1406Arg
NM_001351296.1:c.4151A>G	NP_001338225.1:p.Lys1384Arg
NM_001351297.1:c.4148A>G	NP_001338226.1:p.Lys1383Arg
NR_147094.1:n.4446A>G
XM_017018197.2:c.4220A>G	XP_016873686.1:p.Lys1407Arg
XM_017018199.1:c.4217A>G	XP_016873688.1:p.Lys1406Arg
XM_017018201.2:c.4220A>G	XP_016873690.1:p.Lys1407Arg
XM_017018202.1:c.2717A>G	XP_016873691.1:p.Lys906Arg
XM_017018204.1:c.2108A>G	XP_016873693.1:p.Lys703Arg
XM_024448668.1:c.2519A>G	XP_024304436.1:p.Lys840Arg
XR_001747945.2:n.4292A>G
XR_001747946.2:n.4223A>G
XR_002957189.1:n.5873A>G
NM_000352.6:c.4151A>G MANE Select	NP_000343.2:p.Lys1384Arg
NM_001287174.2:c.4154A>G	NP_001274103.1:p.Lys1385Arg
NM_001351295.2:c.4217A>G	NP_001338224.1:p.Lys1406Arg
NM_001351296.2:c.4151A>G	NP_001338225.1:p.Lys1384Arg
NM_001351297.2:c.4148A>G	NP_001338226.1:p.Lys1383Arg
NR_147094.2:n.4446A>G
NM_001287174.3:c.4154A>G	NP_001274103.1:p.Lys1385Arg