Canonical Allele Identifier: CA379802934

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428313A>T (hg19) ; chr11:g.17406766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406766A>T , CM000673.2:g.17406766A>T	GRCh38
NC_000011.9:g.17428313A>T , CM000673.1:g.17428313A>T	GRCh37
NC_000011.8:g.17384889A>T	NCBI36
NG_008867.1:g.75137T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2754T>A
ENST00000529967.6:n.1524T>A
ENST00000532220.2:n.917T>A
ENST00000642611.2:n.3254T>A
ENST00000645004.2:n.684T>A
ENST00000682051.1:n.3201T>A
ENST00000682110.1:n.3254T>A
ENST00000682140.1:c.3182T>A	ENSP00000507829.1:p.Val1061Asp
ENST00000682185.1:n.4490T>A
ENST00000682204.1:c.*1323T>A	ENSP00000507094.1:n.*1323T>A
ENST00000682215.1:n.3251T>A
ENST00000682288.1:c.*1616T>A	ENSP00000507506.1:n.*1616T>A
ENST00000682442.1:n.3474T>A
ENST00000682528.1:n.3331T>A
ENST00000682673.1:n.3198T>A
ENST00000682805.1:n.3251T>A
ENST00000682965.1:c.3182T>A	ENSP00000508229.1:p.Val1061Asp
ENST00000683093.1:n.3353T>A
ENST00000683136.1:c.3182T>A	ENSP00000507768.1:p.Val1061Asp
ENST00000683153.1:n.3410T>A
ENST00000683365.1:n.3356T>A
ENST00000683377.1:n.3254T>A
ENST00000683456.1:c.*322T>A	ENSP00000508318.1:n.*322T>A
ENST00000683522.1:n.3254T>A
ENST00000683562.1:c.*1354T>A	ENSP00000508265.1:n.*1354T>A
ENST00000683693.1:n.3331T>A
ENST00000683725.1:c.3185T>A	ENSP00000507496.1:p.Val1062Asp
ENST00000684010.1:n.3249T>A
ENST00000684157.1:n.3254T>A
ENST00000684253.1:n.3157T>A
ENST00000684288.1:c.*1357T>A	ENSP00000507143.1:n.*1357T>A
ENST00000684313.1:n.2686T>A
ENST00000684332.1:n.3327T>A
ENST00000684371.1:n.3360T>A
ENST00000684404.1:n.3297T>A
ENST00000684442.1:n.3254T>A
ENST00000684555.1:c.*1397T>A	ENSP00000507705.1:n.*1397T>A
ENST00000684571.1:c.3026T>A	ENSP00000506935.1:p.Val1009Asp
ENST00000684593.1:c.*2890T>A	ENSP00000507005.1:n.*2890T>A
ENST00000684711.1:c.*1581T>A	ENSP00000506841.1:n.*1581T>A
ENST00000302539.9:c.3188T>A	ENSP00000303960.4:p.Val1063Asp
ENST00000389817.8:c.3185T>A MANE Select	ENSP00000374467.4:p.Val1062Asp
ENST00000642271.1:c.3182T>A	ENSP00000493749.1:p.Val1061Asp
ENST00000642579.1:c.1269T>A
ENST00000642611.1:n.3139T>A
ENST00000642902.1:c.2967T>A
ENST00000643260.1:c.3185T>A	ENSP00000494450.1:p.Val1062Asp
ENST00000643562.1:c.*1161T>A	ENSP00000496124.1:n.*1161T>A
ENST00000643925.1:c.1309T>A
ENST00000644447.1:c.1541T>A	ENSP00000496282.1:p.Val514Asp
ENST00000644484.1:c.*1440T>A	ENSP00000493558.1:n.*1440T>A
ENST00000644542.1:c.*2989T>A	ENSP00000495532.1:n.*2989T>A
ENST00000644675.1:c.*1357T>A	ENSP00000494567.1:n.*1357T>A
ENST00000644757.1:c.*1470T>A	ENSP00000495085.1:n.*1470T>A
ENST00000644772.1:c.3251T>A	ENSP00000494321.1:p.Val1084Asp
ENST00000645004.1:n.324T>A
ENST00000645076.1:c.2384T>A
ENST00000645417.1:c.351T>A
ENST00000645744.1:c.*1449T>A	ENSP00000494564.1:n.*1449T>A
ENST00000645760.1:c.3460T>A
ENST00000645884.1:c.*322T>A	ENSP00000495516.1:n.*322T>A
ENST00000646003.1:c.*1141T>A	ENSP00000495259.1:n.*1141T>A
ENST00000646207.1:c.*1652T>A	ENSP00000495025.1:n.*1652T>A
ENST00000646276.1:c.*1458T>A	ENSP00000496070.1:n.*1458T>A
ENST00000646592.1:c.2491T>A
ENST00000646902.1:c.3182T>A	ENSP00000494101.1:p.Val1061Asp
ENST00000646993.1:c.*1581T>A	ENSP00000493720.1:n.*1581T>A
ENST00000647013.1:c.3191T>A	ENSP00000496741.1:n.3191T>A
ENST00000647015.1:c.2936T>A	ENSP00000495389.1:p.Val979Asp
ENST00000647086.1:c.*2915T>A	ENSP00000493677.1:n.*2915T>A
ENST00000647158.1:c.*1326T>A	ENSP00000495744.1:n.*1326T>A
ENST00000302539.8:c.3188T>A	ENSP00000303960.4:p.Val1063Asp
ENST00000389817.7:c.3185T>A	ENSP00000374467.3:p.Val1062Asp
ENST00000524561.1:n.317T>A
ENST00000526921.5:n.869T>A
ENST00000527905.5:c.*61T>A	ENSP00000431653.1:n.*61T>A
NM_000352.4:c.3185T>A	NP_000343.2:p.Val1062Asp
NM_001287174.1:c.3188T>A	NP_001274103.1:p.Val1063Asp
XM_011520331.1:c.3185T>A	XP_011518633.1:p.Val1062Asp
XM_011520332.1:c.3188T>A	XP_011518634.1:p.Val1063Asp
XM_011520333.1:c.1685T>A	XP_011518635.1:p.Val562Asp
XR_930890.1:n.3251T>A
XR_930891.1:n.3251T>A
XR_930892.1:n.3151T>A
XR_930893.1:n.3148T>A
NM_001351295.1:c.3251T>A	NP_001338224.1:p.Val1084Asp
NM_001351296.1:c.3185T>A	NP_001338225.1:p.Val1062Asp
NM_001351297.1:c.3182T>A	NP_001338226.1:p.Val1061Asp
NR_147094.1:n.3334T>A
XM_017018197.2:c.3254T>A	XP_016873686.1:p.Val1085Asp
XM_017018199.1:c.3251T>A	XP_016873688.1:p.Val1084Asp
XM_017018201.2:c.3254T>A	XP_016873690.1:p.Val1085Asp
XM_017018202.1:c.1751T>A	XP_016873691.1:p.Val584Asp
XM_017018204.1:c.1142T>A	XP_016873693.1:p.Val381Asp
XM_024448668.1:c.1553T>A	XP_024304436.1:p.Val518Asp
XR_001747945.2:n.3326T>A
XR_001747946.2:n.3257T>A
XR_002957189.1:n.3406T>A
NM_000352.6:c.3185T>A MANE Select	NP_000343.2:p.Val1062Asp
NM_001287174.2:c.3188T>A	NP_001274103.1:p.Val1063Asp
NM_001351295.2:c.3251T>A	NP_001338224.1:p.Val1084Asp
NM_001351296.2:c.3185T>A	NP_001338225.1:p.Val1062Asp
NM_001351297.2:c.3182T>A	NP_001338226.1:p.Val1061Asp
NR_147094.2:n.3334T>A
NM_001287174.3:c.3188T>A	NP_001274103.1:p.Val1063Asp