Canonical Allele Identifier: CA379790696

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418531C>A (hg19) ; chr11:g.17396984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396984C>A , CM000673.2:g.17396984C>A	GRCh38
NC_000011.9:g.17418531C>A , CM000673.1:g.17418531C>A	GRCh37
NC_000011.8:g.17375107C>A	NCBI36
NG_008867.1:g.84919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3652G>T
ENST00000528374.2:c.642G>T
ENST00000529967.6:n.2390G>T
ENST00000532220.2:n.2299G>T
ENST00000642611.2:n.4266G>T
ENST00000644057.2:n.494G>T
ENST00000645004.2:n.1550G>T
ENST00000682051.1:n.4213G>T
ENST00000682110.1:n.4266G>T
ENST00000682140.1:c.3985+209G>T	ENSP00000507829.1:n.3985+209G>T
ENST00000682185.1:n.5356G>T
ENST00000682204.1:c.*2189G>T	ENSP00000507094.1:n.*2189G>T
ENST00000682215.1:n.4633G>T
ENST00000682288.1:c.*2482G>T	ENSP00000507506.1:n.*2482G>T
ENST00000682442.1:n.4486G>T
ENST00000682528.1:n.4343G>T
ENST00000682673.1:n.4210G>T
ENST00000682805.1:n.4633G>T
ENST00000682965.1:c.*473G>T	ENSP00000508229.1:n.*473G>T
ENST00000683093.1:n.4365G>T
ENST00000683136.1:c.3934G>T	ENSP00000507768.1:p.Val1312Leu
ENST00000683153.1:n.4308G>T
ENST00000683365.1:n.4368G>T
ENST00000683377.1:n.4266G>T
ENST00000683456.1:c.*1188G>T	ENSP00000508318.1:n.*1188G>T
ENST00000683522.1:n.4266G>T
ENST00000683562.1:c.*2220G>T	ENSP00000508265.1:n.*2220G>T
ENST00000683693.1:n.4713G>T
ENST00000683725.1:c.4051G>T	ENSP00000507496.1:p.Val1351Leu
ENST00000684010.1:n.4261G>T
ENST00000684157.1:n.4266G>T
ENST00000684253.1:n.4169G>T
ENST00000684288.1:c.*2223G>T	ENSP00000507143.1:n.*2223G>T
ENST00000684313.1:n.3698G>T
ENST00000684332.1:n.4339G>T
ENST00000684371.1:n.4372G>T
ENST00000684404.1:n.4309G>T
ENST00000684442.1:n.4490G>T
ENST00000684555.1:c.*2263G>T	ENSP00000507705.1:n.*2263G>T
ENST00000684571.1:c.3892G>T	ENSP00000506935.1:p.Val1298Leu
ENST00000684593.1:c.*3756G>T	ENSP00000507005.1:n.*3756G>T
ENST00000684711.1:c.*2447G>T	ENSP00000506841.1:n.*2447G>T
ENST00000302539.9:c.4054G>T	ENSP00000303960.4:p.Val1352Leu
ENST00000389817.8:c.4051G>T MANE Select	ENSP00000374467.4:p.Val1351Leu
ENST00000642271.1:c.4048G>T	ENSP00000493749.1:p.Val1350Leu
ENST00000642579.1:c.2105G>T
ENST00000642611.1:n.4151G>T
ENST00000642902.1:c.3833G>T
ENST00000643260.1:c.4051G>T	ENSP00000494450.1:p.Val1351Leu
ENST00000643562.1:c.*2173G>T	ENSP00000496124.1:n.*2173G>T
ENST00000643925.1:c.2691G>T
ENST00000644057.1:n.128G>T
ENST00000644484.1:c.*2452G>T	ENSP00000493558.1:n.*2452G>T
ENST00000644675.1:c.*2223G>T	ENSP00000494567.1:n.*2223G>T
ENST00000644757.1:c.*2482G>T	ENSP00000495085.1:n.*2482G>T
ENST00000644772.1:c.4117G>T	ENSP00000494321.1:p.Val1373Leu
ENST00000645004.1:n.1706G>T
ENST00000645076.1:c.3250G>T
ENST00000645417.1:c.1239G>T
ENST00000645744.1:c.*2831G>T	ENSP00000494564.1:n.*2831G>T
ENST00000645760.1:c.4472G>T
ENST00000645884.1:c.*1334G>T	ENSP00000495516.1:n.*1334G>T
ENST00000646003.1:c.*2153G>T	ENSP00000495259.1:n.*2153G>T
ENST00000646207.1:c.*2888G>T	ENSP00000495025.1:n.*2888G>T
ENST00000646276.1:c.*2470G>T	ENSP00000496070.1:n.*2470G>T
ENST00000646592.1:c.3357G>T
ENST00000646902.1:c.4018G>T	ENSP00000494101.1:p.Val1340Leu
ENST00000646993.1:c.*2593G>T	ENSP00000493720.1:n.*2593G>T
ENST00000647013.1:c.4057G>T	ENSP00000496741.1:n.4057G>T
ENST00000647015.1:c.3802G>T	ENSP00000495389.1:p.Val1268Leu
ENST00000647086.1:c.*3637G>T	ENSP00000493677.1:n.*3637G>T
ENST00000647158.1:c.*2338G>T	ENSP00000495744.1:n.*2338G>T
ENST00000302539.8:c.4054G>T	ENSP00000303960.4:p.Val1352Leu
ENST00000389817.7:c.4051G>T	ENSP00000374467.3:p.Val1351Leu
ENST00000527905.5:c.*1073G>T	ENSP00000431653.1:n.*1073G>T
ENST00000528374.1:c.533G>T
ENST00000531137.1:n.616G>T
ENST00000531891.1:c.389G>T
ENST00000532220.1:n.525G>T
NM_000352.4:c.4051G>T	NP_000343.2:p.Val1351Leu
NM_001287174.1:c.4054G>T	NP_001274103.1:p.Val1352Leu
XM_011520331.1:c.4051G>T	XP_011518633.1:p.Val1351Leu
XM_011520332.1:c.4054G>T	XP_011518634.1:p.Val1352Leu
XM_011520333.1:c.2551G>T	XP_011518635.1:p.Val851Leu
XR_930890.1:n.4117G>T
NM_001351295.1:c.4117G>T	NP_001338224.1:p.Val1373Leu
NM_001351296.1:c.4051G>T	NP_001338225.1:p.Val1351Leu
NM_001351297.1:c.4048G>T	NP_001338226.1:p.Val1350Leu
NR_147094.1:n.4346G>T
XM_017018197.2:c.4120G>T	XP_016873686.1:p.Val1374Leu
XM_017018199.1:c.4117G>T	XP_016873688.1:p.Val1373Leu
XM_017018201.2:c.4120G>T	XP_016873690.1:p.Val1374Leu
XM_017018202.1:c.2617G>T	XP_016873691.1:p.Val873Leu
XM_017018204.1:c.2008G>T	XP_016873693.1:p.Val670Leu
XM_024448668.1:c.2419G>T	XP_024304436.1:p.Val807Leu
XR_001747945.2:n.4192G>T
XR_001747946.2:n.4123G>T
XR_002957189.1:n.4788G>T
NM_000352.6:c.4051G>T MANE Select	NP_000343.2:p.Val1351Leu
NM_001287174.2:c.4054G>T	NP_001274103.1:p.Val1352Leu
NM_001351295.2:c.4117G>T	NP_001338224.1:p.Val1373Leu
NM_001351296.2:c.4051G>T	NP_001338225.1:p.Val1351Leu
NM_001351297.2:c.4048G>T	NP_001338226.1:p.Val1350Leu
NR_147094.2:n.4346G>T
NM_001287174.3:c.4054G>T	NP_001274103.1:p.Val1352Leu