Canonical Allele Identifier: CA379799557

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426197T>A (hg19) ; chr11:g.17404650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404650T>A , CM000673.2:g.17404650T>A	GRCh38
NC_000011.9:g.17426197T>A , CM000673.1:g.17426197T>A	GRCh37
NC_000011.8:g.17382773T>A	NCBI36
NG_008867.1:g.77253A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2988A>T
ENST00000529967.6:n.1758A>T
ENST00000532220.2:n.1151A>T
ENST00000642611.2:n.3488A>T
ENST00000645004.2:n.918A>T
ENST00000682051.1:n.3435A>T
ENST00000682110.1:n.3488A>T
ENST00000682140.1:c.3416A>T	ENSP00000507829.1:p.Glu1139Val
ENST00000682185.1:n.4724A>T
ENST00000682204.1:c.*1557A>T	ENSP00000507094.1:n.*1557A>T
ENST00000682215.1:n.3485A>T
ENST00000682288.1:c.*1850A>T	ENSP00000507506.1:n.*1850A>T
ENST00000682442.1:n.3708A>T
ENST00000682528.1:n.3565A>T
ENST00000682673.1:n.3432A>T
ENST00000682805.1:n.3485A>T
ENST00000682965.1:c.3396+844A>T	ENSP00000508229.1:n.3396+844A>T
ENST00000683093.1:n.3587A>T
ENST00000683136.1:c.3416A>T	ENSP00000507768.1:p.Glu1139Val
ENST00000683153.1:n.3644A>T
ENST00000683365.1:n.3590A>T
ENST00000683377.1:n.3488A>T
ENST00000683456.1:c.*556A>T	ENSP00000508318.1:n.*556A>T
ENST00000683522.1:n.3488A>T
ENST00000683562.1:c.*1588A>T	ENSP00000508265.1:n.*1588A>T
ENST00000683693.1:n.3565A>T
ENST00000683725.1:c.3419A>T	ENSP00000507496.1:p.Glu1140Val
ENST00000684010.1:n.3483A>T
ENST00000684157.1:n.3488A>T
ENST00000684253.1:n.3391A>T
ENST00000684288.1:c.*1591A>T	ENSP00000507143.1:n.*1591A>T
ENST00000684313.1:n.2920A>T
ENST00000684332.1:n.3561A>T
ENST00000684371.1:n.3594A>T
ENST00000684404.1:n.3531A>T
ENST00000684442.1:n.3488A>T
ENST00000684555.1:c.*1631A>T	ENSP00000507705.1:n.*1631A>T
ENST00000684571.1:c.3260A>T	ENSP00000506935.1:p.Glu1087Val
ENST00000684593.1:c.*3124A>T	ENSP00000507005.1:n.*3124A>T
ENST00000684711.1:c.*1815A>T	ENSP00000506841.1:n.*1815A>T
ENST00000302539.9:c.3422A>T	ENSP00000303960.4:p.Glu1141Val
ENST00000389817.8:c.3419A>T MANE Select	ENSP00000374467.4:p.Glu1140Val
ENST00000642271.1:c.3416A>T	ENSP00000493749.1:p.Glu1139Val
ENST00000642579.1:c.1503A>T
ENST00000642611.1:n.3373A>T
ENST00000642902.1:c.3201A>T
ENST00000643260.1:c.3419A>T	ENSP00000494450.1:p.Glu1140Val
ENST00000643562.1:c.*1395A>T	ENSP00000496124.1:n.*1395A>T
ENST00000643925.1:c.1543A>T
ENST00000644447.1:c.1775A>T	ENSP00000496282.1:p.Glu592Val
ENST00000644484.1:c.*1674A>T	ENSP00000493558.1:n.*1674A>T
ENST00000644675.1:c.*1591A>T	ENSP00000494567.1:n.*1591A>T
ENST00000644757.1:c.*1704A>T	ENSP00000495085.1:n.*1704A>T
ENST00000644772.1:c.3485A>T	ENSP00000494321.1:p.Glu1162Val
ENST00000645004.1:n.558A>T
ENST00000645076.1:c.2618A>T
ENST00000645417.1:c.585A>T
ENST00000645744.1:c.*1683A>T	ENSP00000494564.1:n.*1683A>T
ENST00000645760.1:c.3694A>T
ENST00000645884.1:c.*556A>T	ENSP00000495516.1:n.*556A>T
ENST00000646003.1:c.*1375A>T	ENSP00000495259.1:n.*1375A>T
ENST00000646207.1:c.*1886A>T	ENSP00000495025.1:n.*1886A>T
ENST00000646276.1:c.*1692A>T	ENSP00000496070.1:n.*1692A>T
ENST00000646592.1:c.2725A>T
ENST00000646902.1:c.3416A>T	ENSP00000494101.1:p.Glu1139Val
ENST00000646993.1:c.*1815A>T	ENSP00000493720.1:n.*1815A>T
ENST00000647013.1:c.3425A>T	ENSP00000496741.1:n.3425A>T
ENST00000647015.1:c.3170A>T	ENSP00000495389.1:p.Glu1057Val
ENST00000647086.1:c.*3149A>T	ENSP00000493677.1:n.*3149A>T
ENST00000647158.1:c.*1560A>T	ENSP00000495744.1:n.*1560A>T
ENST00000302539.8:c.3422A>T	ENSP00000303960.4:p.Glu1141Val
ENST00000389817.7:c.3419A>T	ENSP00000374467.3:p.Glu1140Val
ENST00000524561.1:n.551A>T
ENST00000527905.5:c.*295A>T	ENSP00000431653.1:n.*295A>T
NM_000352.4:c.3419A>T	NP_000343.2:p.Glu1140Val
NM_001287174.1:c.3422A>T	NP_001274103.1:p.Glu1141Val
XM_011520331.1:c.3419A>T	XP_011518633.1:p.Glu1140Val
XM_011520332.1:c.3422A>T	XP_011518634.1:p.Glu1141Val
XM_011520333.1:c.1919A>T	XP_011518635.1:p.Glu640Val
XR_930890.1:n.3485A>T
XR_930892.1:n.3385A>T
XR_930893.1:n.3382A>T
NM_001351295.1:c.3485A>T	NP_001338224.1:p.Glu1162Val
NM_001351296.1:c.3419A>T	NP_001338225.1:p.Glu1140Val
NM_001351297.1:c.3416A>T	NP_001338226.1:p.Glu1139Val
NR_147094.1:n.3568A>T
XM_017018197.2:c.3488A>T	XP_016873686.1:p.Glu1163Val
XM_017018199.1:c.3485A>T	XP_016873688.1:p.Glu1162Val
XM_017018201.2:c.3488A>T	XP_016873690.1:p.Glu1163Val
XM_017018202.1:c.1985A>T	XP_016873691.1:p.Glu662Val
XM_017018204.1:c.1376A>T	XP_016873693.1:p.Glu459Val
XM_024448668.1:c.1787A>T	XP_024304436.1:p.Glu596Val
XR_001747945.2:n.3560A>T
XR_001747946.2:n.3491A>T
XR_002957189.1:n.3640A>T
NM_000352.6:c.3419A>T MANE Select	NP_000343.2:p.Glu1140Val
NM_001287174.2:c.3422A>T	NP_001274103.1:p.Glu1141Val
NM_001351295.2:c.3485A>T	NP_001338224.1:p.Glu1162Val
NM_001351296.2:c.3419A>T	NP_001338225.1:p.Glu1140Val
NM_001351297.2:c.3416A>T	NP_001338226.1:p.Glu1139Val
NR_147094.2:n.3568A>T
NM_001287174.3:c.3422A>T	NP_001274103.1:p.Glu1141Val