Canonical Allele Identifier: CA379798226

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426150T>G (hg19) ; chr11:g.17404603T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404603T>G , CM000673.2:g.17404603T>G	GRCh38
NC_000011.9:g.17426150T>G , CM000673.1:g.17426150T>G	GRCh37
NC_000011.8:g.17382726T>G	NCBI36
NG_008867.1:g.77300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3035A>C
ENST00000528374.2:c.45A>C
ENST00000529967.6:n.1805A>C
ENST00000532220.2:n.1198A>C
ENST00000642611.2:n.3535A>C
ENST00000645004.2:n.965A>C
ENST00000682051.1:n.3482A>C
ENST00000682110.1:n.3535A>C
ENST00000682140.1:c.3463A>C	ENSP00000507829.1:p.Ile1155Leu
ENST00000682185.1:n.4771A>C
ENST00000682204.1:c.*1604A>C	ENSP00000507094.1:n.*1604A>C
ENST00000682215.1:n.3532A>C
ENST00000682288.1:c.*1897A>C	ENSP00000507506.1:n.*1897A>C
ENST00000682442.1:n.3755A>C
ENST00000682528.1:n.3612A>C
ENST00000682673.1:n.3479A>C
ENST00000682805.1:n.3532A>C
ENST00000682965.1:c.3396+891A>C	ENSP00000508229.1:n.3396+891A>C
ENST00000683093.1:n.3634A>C
ENST00000683136.1:c.3463A>C	ENSP00000507768.1:p.Ile1155Leu
ENST00000683153.1:n.3691A>C
ENST00000683365.1:n.3637A>C
ENST00000683377.1:n.3535A>C
ENST00000683456.1:c.*603A>C	ENSP00000508318.1:n.*603A>C
ENST00000683522.1:n.3535A>C
ENST00000683562.1:c.*1635A>C	ENSP00000508265.1:n.*1635A>C
ENST00000683693.1:n.3612A>C
ENST00000683725.1:c.3466A>C	ENSP00000507496.1:p.Ile1156Leu
ENST00000684010.1:n.3530A>C
ENST00000684157.1:n.3535A>C
ENST00000684253.1:n.3438A>C
ENST00000684288.1:c.*1638A>C	ENSP00000507143.1:n.*1638A>C
ENST00000684313.1:n.2967A>C
ENST00000684332.1:n.3608A>C
ENST00000684371.1:n.3641A>C
ENST00000684404.1:n.3578A>C
ENST00000684442.1:n.3535A>C
ENST00000684555.1:c.*1678A>C	ENSP00000507705.1:n.*1678A>C
ENST00000684571.1:c.3307A>C	ENSP00000506935.1:p.Ile1103Leu
ENST00000684593.1:c.*3171A>C	ENSP00000507005.1:n.*3171A>C
ENST00000684711.1:c.*1862A>C	ENSP00000506841.1:n.*1862A>C
ENST00000302539.9:c.3469A>C	ENSP00000303960.4:p.Ile1157Leu
ENST00000389817.8:c.3466A>C MANE Select	ENSP00000374467.4:p.Ile1156Leu
ENST00000642271.1:c.3463A>C	ENSP00000493749.1:p.Ile1155Leu
ENST00000642579.1:c.1550A>C
ENST00000642611.1:n.3420A>C
ENST00000642902.1:c.3248A>C
ENST00000643260.1:c.3466A>C	ENSP00000494450.1:p.Ile1156Leu
ENST00000643562.1:c.*1442A>C	ENSP00000496124.1:n.*1442A>C
ENST00000643925.1:c.1590A>C
ENST00000644447.1:c.1822A>C	ENSP00000496282.1:p.Ile608Leu
ENST00000644484.1:c.*1721A>C	ENSP00000493558.1:n.*1721A>C
ENST00000644675.1:c.*1638A>C	ENSP00000494567.1:n.*1638A>C
ENST00000644757.1:c.*1751A>C	ENSP00000495085.1:n.*1751A>C
ENST00000644772.1:c.3532A>C	ENSP00000494321.1:p.Ile1178Leu
ENST00000645004.1:n.605A>C
ENST00000645076.1:c.2665A>C
ENST00000645417.1:c.632A>C
ENST00000645744.1:c.*1730A>C	ENSP00000494564.1:n.*1730A>C
ENST00000645760.1:c.3741A>C
ENST00000645884.1:c.*603A>C	ENSP00000495516.1:n.*603A>C
ENST00000646003.1:c.*1422A>C	ENSP00000495259.1:n.*1422A>C
ENST00000646207.1:c.*1933A>C	ENSP00000495025.1:n.*1933A>C
ENST00000646276.1:c.*1739A>C	ENSP00000496070.1:n.*1739A>C
ENST00000646592.1:c.2772A>C
ENST00000646902.1:c.3463A>C	ENSP00000494101.1:p.Ile1155Leu
ENST00000646993.1:c.*1862A>C	ENSP00000493720.1:n.*1862A>C
ENST00000647013.1:c.3472A>C	ENSP00000496741.1:n.3472A>C
ENST00000647015.1:c.3217A>C	ENSP00000495389.1:p.Ile1073Leu
ENST00000647086.1:c.*3196A>C	ENSP00000493677.1:n.*3196A>C
ENST00000647158.1:c.*1607A>C	ENSP00000495744.1:n.*1607A>C
ENST00000302539.8:c.3469A>C	ENSP00000303960.4:p.Ile1157Leu
ENST00000389817.7:c.3466A>C	ENSP00000374467.3:p.Ile1156Leu
ENST00000524561.1:n.598A>C
ENST00000527905.5:c.*342A>C	ENSP00000431653.1:n.*342A>C
NM_000352.4:c.3466A>C	NP_000343.2:p.Ile1156Leu
NM_001287174.1:c.3469A>C	NP_001274103.1:p.Ile1157Leu
XM_011520331.1:c.3466A>C	XP_011518633.1:p.Ile1156Leu
XM_011520332.1:c.3469A>C	XP_011518634.1:p.Ile1157Leu
XM_011520333.1:c.1966A>C	XP_011518635.1:p.Ile656Leu
XR_930890.1:n.3532A>C
XR_930892.1:n.3432A>C
XR_930893.1:n.3429A>C
NM_001351295.1:c.3532A>C	NP_001338224.1:p.Ile1178Leu
NM_001351296.1:c.3466A>C	NP_001338225.1:p.Ile1156Leu
NM_001351297.1:c.3463A>C	NP_001338226.1:p.Ile1155Leu
NR_147094.1:n.3615A>C
XM_017018197.2:c.3535A>C	XP_016873686.1:p.Ile1179Leu
XM_017018199.1:c.3532A>C	XP_016873688.1:p.Ile1178Leu
XM_017018201.2:c.3535A>C	XP_016873690.1:p.Ile1179Leu
XM_017018202.1:c.2032A>C	XP_016873691.1:p.Ile678Leu
XM_017018204.1:c.1423A>C	XP_016873693.1:p.Ile475Leu
XM_024448668.1:c.1834A>C	XP_024304436.1:p.Ile612Leu
XR_001747945.2:n.3607A>C
XR_001747946.2:n.3538A>C
XR_002957189.1:n.3687A>C
NM_000352.6:c.3466A>C MANE Select	NP_000343.2:p.Ile1156Leu
NM_001287174.2:c.3469A>C	NP_001274103.1:p.Ile1157Leu
NM_001351295.2:c.3532A>C	NP_001338224.1:p.Ile1178Leu
NM_001351296.2:c.3466A>C	NP_001338225.1:p.Ile1156Leu
NM_001351297.2:c.3463A>C	NP_001338226.1:p.Ile1155Leu
NR_147094.2:n.3615A>C
NM_001287174.3:c.3469A>C	NP_001274103.1:p.Ile1157Leu