Canonical Allele Identifier: CA379787684

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395853-T-A
• MyVariant Identifiers: chr11:g.17417400T>A (hg19) ; chr11:g.17395853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395853T>A , CM000673.2:g.17395853T>A	GRCh38
NC_000011.9:g.17417400T>A , CM000673.1:g.17417400T>A	GRCh37
NC_000011.8:g.17373976T>A	NCBI36
NG_008867.1:g.86050A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3798A>T
ENST00000528374.2:c.788A>T
ENST00000529967.6:n.2536A>T
ENST00000532220.2:n.3430A>T
ENST00000642611.2:n.5397A>T
ENST00000644057.2:n.640A>T
ENST00000645004.2:n.1696A>T
ENST00000682051.1:n.4359A>T
ENST00000682110.1:n.4412A>T
ENST00000682140.1:c.4063A>T	ENSP00000507829.1:p.Arg1355Trp
ENST00000682185.1:n.5502A>T
ENST00000682204.1:c.*2335A>T	ENSP00000507094.1:n.*2335A>T
ENST00000682215.1:n.4779A>T
ENST00000682288.1:c.*2628A>T	ENSP00000507506.1:n.*2628A>T
ENST00000682442.1:n.4632A>T
ENST00000682528.1:n.4489A>T
ENST00000682673.1:n.4356A>T
ENST00000682805.1:n.4817A>T
ENST00000682965.1:c.*619A>T	ENSP00000508229.1:n.*619A>T
ENST00000683093.1:n.5496A>T
ENST00000683136.1:c.4080A>T	ENSP00000507768.1:p.Glu1360Asp
ENST00000683153.1:n.4454A>T
ENST00000683365.1:n.4514A>T
ENST00000683377.1:n.4412A>T
ENST00000683456.1:c.*1334A>T	ENSP00000508318.1:n.*1334A>T
ENST00000683522.1:n.4412A>T
ENST00000683562.1:c.*2366A>T	ENSP00000508265.1:n.*2366A>T
ENST00000683693.1:n.5844A>T
ENST00000683725.1:c.4197A>T	ENSP00000507496.1:p.Glu1399Asp
ENST00000684010.1:n.4407A>T
ENST00000684157.1:n.5397A>T
ENST00000684253.1:n.4315A>T
ENST00000684288.1:c.*2369A>T	ENSP00000507143.1:n.*2369A>T
ENST00000684313.1:n.3844A>T
ENST00000684332.1:n.4485A>T
ENST00000684371.1:n.4518A>T
ENST00000684404.1:n.5440A>T
ENST00000684442.1:n.4636A>T
ENST00000684555.1:c.*2409A>T	ENSP00000507705.1:n.*2409A>T
ENST00000684571.1:c.4038A>T	ENSP00000506935.1:p.Glu1346Asp
ENST00000684593.1:c.*3902A>T	ENSP00000507005.1:n.*3902A>T
ENST00000684711.1:c.*2593A>T	ENSP00000506841.1:n.*2593A>T
ENST00000302539.9:c.4200A>T	ENSP00000303960.4:p.Glu1400Asp
ENST00000389817.8:c.4197A>T MANE Select	ENSP00000374467.4:p.Glu1399Asp
ENST00000642271.1:c.4194A>T	ENSP00000493749.1:p.Glu1398Asp
ENST00000642579.1:c.2251A>T
ENST00000642611.1:n.5282A>T
ENST00000642902.1:c.3979A>T
ENST00000643260.1:c.4197A>T	ENSP00000494450.1:p.Glu1399Asp
ENST00000643562.1:c.*2319A>T	ENSP00000496124.1:n.*2319A>T
ENST00000643925.1:c.2837A>T
ENST00000644057.1:n.274A>T
ENST00000644484.1:c.*3583A>T	ENSP00000493558.1:n.*3583A>T
ENST00000644675.1:c.*2369A>T	ENSP00000494567.1:n.*2369A>T
ENST00000644757.1:c.*3202+411A>T	ENSP00000495085.1:n.*3202+411A>T
ENST00000644772.1:c.4263A>T	ENSP00000494321.1:p.Glu1421Asp
ENST00000645004.1:n.1890A>T
ENST00000645076.1:c.3396A>T
ENST00000645417.1:c.1385A>T
ENST00000645744.1:c.*3962A>T	ENSP00000494564.1:n.*3962A>T
ENST00000645760.1:c.4618A>T
ENST00000645884.1:c.*1480A>T	ENSP00000495516.1:n.*1480A>T
ENST00000646003.1:c.*2299A>T	ENSP00000495259.1:n.*2299A>T
ENST00000646207.1:c.*3034A>T	ENSP00000495025.1:n.*3034A>T
ENST00000646276.1:c.*3601A>T	ENSP00000496070.1:n.*3601A>T
ENST00000646592.1:c.3503A>T
ENST00000646902.1:c.4164A>T	ENSP00000494101.1:p.Glu1388Asp
ENST00000646993.1:c.*2739A>T	ENSP00000493720.1:n.*2739A>T
ENST00000647013.1:c.4203A>T	ENSP00000496741.1:n.4203A>T
ENST00000647015.1:c.3948A>T	ENSP00000495389.1:p.Glu1316Asp
ENST00000647086.1:c.*3783A>T	ENSP00000493677.1:n.*3783A>T
ENST00000647158.1:c.*2484A>T	ENSP00000495744.1:n.*2484A>T
ENST00000302539.8:c.4200A>T	ENSP00000303960.4:p.Glu1400Asp
ENST00000389817.7:c.4197A>T	ENSP00000374467.3:p.Glu1399Asp
ENST00000525022.1:n.63A>T
ENST00000526168.5:c.65A>T
ENST00000531642.5:c.33A>T
NM_000352.4:c.4197A>T	NP_000343.2:p.Glu1399Asp
NM_001287174.1:c.4200A>T	NP_001274103.1:p.Glu1400Asp
XM_011520331.1:c.4197A>T	XP_011518633.1:p.Glu1399Asp
XM_011520332.1:c.4200A>T	XP_011518634.1:p.Glu1400Asp
XM_011520333.1:c.2697A>T	XP_011518635.1:p.Glu899Asp
XR_930890.1:n.4263A>T
NM_001351295.1:c.4263A>T	NP_001338224.1:p.Glu1421Asp
NM_001351296.1:c.4197A>T	NP_001338225.1:p.Glu1399Asp
NM_001351297.1:c.4194A>T	NP_001338226.1:p.Glu1398Asp
NR_147094.1:n.4492A>T
XM_017018197.2:c.4266A>T	XP_016873686.1:p.Glu1422Asp
XM_017018199.1:c.4263A>T	XP_016873688.1:p.Glu1421Asp
XM_017018201.2:c.4266A>T	XP_016873690.1:p.Glu1422Asp
XM_017018202.1:c.2763A>T	XP_016873691.1:p.Glu921Asp
XM_017018204.1:c.2154A>T	XP_016873693.1:p.Glu718Asp
XM_024448668.1:c.2565A>T	XP_024304436.1:p.Glu855Asp
XR_001747945.2:n.4338A>T
XR_001747946.2:n.4269A>T
XR_002957189.1:n.5919A>T
NM_000352.6:c.4197A>T MANE Select	NP_000343.2:p.Glu1399Asp
NM_001287174.2:c.4200A>T	NP_001274103.1:p.Glu1400Asp
NM_001351295.2:c.4263A>T	NP_001338224.1:p.Glu1421Asp
NM_001351296.2:c.4197A>T	NP_001338225.1:p.Glu1399Asp
NM_001351297.2:c.4194A>T	NP_001338226.1:p.Glu1398Asp
NR_147094.2:n.4492A>T
NM_001287174.3:c.4200A>T	NP_001274103.1:p.Glu1400Asp