Canonical Allele Identifier: CA379807688

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434280G>T (hg19) ; chr11:g.17412733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412733G>T , CM000673.2:g.17412733G>T	GRCh38
NC_000011.9:g.17434280G>T , CM000673.1:g.17434280G>T	GRCh37
NC_000011.8:g.17390856G>T	NCBI36
NG_008867.1:g.69170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2158C>A
ENST00000529967.6:n.748C>A
ENST00000642611.2:n.2558C>A
ENST00000682051.1:n.2505C>A
ENST00000682110.1:n.2558C>A
ENST00000682140.1:c.2486C>A	ENSP00000507829.1:p.Ser829Tyr
ENST00000682185.1:n.3794C>A
ENST00000682204.1:c.*627C>A	ENSP00000507094.1:n.*627C>A
ENST00000682215.1:n.2555C>A
ENST00000682288.1:c.*920C>A	ENSP00000507506.1:n.*920C>A
ENST00000682442.1:n.2679C>A
ENST00000682528.1:n.2555C>A
ENST00000682673.1:n.2502C>A
ENST00000682805.1:n.2555C>A
ENST00000682965.1:c.2486C>A	ENSP00000508229.1:p.Ser829Tyr
ENST00000683093.1:n.2657C>A
ENST00000683136.1:c.2486C>A	ENSP00000507768.1:p.Ser829Tyr
ENST00000683153.1:n.2714C>A
ENST00000683365.1:n.2660C>A
ENST00000683377.1:n.2558C>A
ENST00000683456.1:c.2489C>A	ENSP00000508318.1:p.Ser830Tyr
ENST00000683522.1:n.2558C>A
ENST00000683562.1:c.*658C>A	ENSP00000508265.1:n.*658C>A
ENST00000683693.1:n.2555C>A
ENST00000683725.1:c.2489C>A	ENSP00000507496.1:p.Ser830Tyr
ENST00000684010.1:n.2473C>A
ENST00000684157.1:n.2558C>A
ENST00000684253.1:n.2461C>A
ENST00000684288.1:c.*661C>A	ENSP00000507143.1:n.*661C>A
ENST00000684313.1:n.1990C>A
ENST00000684332.1:n.2631C>A
ENST00000684371.1:n.2664C>A
ENST00000684404.1:n.2555C>A
ENST00000684442.1:n.2558C>A
ENST00000684555.1:c.*701C>A	ENSP00000507705.1:n.*701C>A
ENST00000684571.1:c.2330C>A	ENSP00000506935.1:p.Ser777Tyr
ENST00000684593.1:c.*2194C>A	ENSP00000507005.1:n.*2194C>A
ENST00000684711.1:c.*885C>A	ENSP00000506841.1:n.*885C>A
ENST00000302539.9:c.2492C>A	ENSP00000303960.4:p.Ser831Tyr
ENST00000389817.8:c.2489C>A MANE Select	ENSP00000374467.4:p.Ser830Tyr
ENST00000642271.1:c.2486C>A	ENSP00000493749.1:p.Ser829Tyr
ENST00000642579.1:c.573C>A
ENST00000642611.1:n.2443C>A
ENST00000642902.1:c.2324C>A
ENST00000643260.1:c.2489C>A	ENSP00000494450.1:p.Ser830Tyr
ENST00000643562.1:c.*465C>A	ENSP00000496124.1:n.*465C>A
ENST00000643925.1:c.533C>A
ENST00000644447.1:c.845C>A	ENSP00000496282.1:p.Ser282Tyr
ENST00000644472.1:c.*850C>A	ENSP00000495378.1:n.*850C>A
ENST00000644484.1:c.*698C>A	ENSP00000493558.1:n.*698C>A
ENST00000644542.1:c.*2194C>A	ENSP00000495532.1:n.*2194C>A
ENST00000644675.1:c.*661C>A	ENSP00000494567.1:n.*661C>A
ENST00000644757.1:c.*794C>A	ENSP00000495085.1:n.*794C>A
ENST00000644772.1:c.2555C>A	ENSP00000494321.1:p.Ser852Tyr
ENST00000645076.1:c.1741C>A
ENST00000645744.1:c.*853C>A	ENSP00000494564.1:n.*853C>A
ENST00000645760.1:c.2764C>A
ENST00000645884.1:c.2489C>A	ENSP00000495516.1:p.Ser830Tyr
ENST00000646003.1:c.*545C>A	ENSP00000495259.1:n.*545C>A
ENST00000646207.1:c.*853C>A	ENSP00000495025.1:n.*853C>A
ENST00000646276.1:c.*762C>A	ENSP00000496070.1:n.*762C>A
ENST00000646592.1:c.1715C>A
ENST00000646902.1:c.2486C>A	ENSP00000494101.1:p.Ser829Tyr
ENST00000646993.1:c.*885C>A	ENSP00000493720.1:n.*885C>A
ENST00000647013.1:c.2495C>A	ENSP00000496741.1:n.2495C>A
ENST00000647015.1:c.2240C>A	ENSP00000495389.1:p.Ser747Tyr
ENST00000647086.1:c.*2219C>A	ENSP00000493677.1:n.*2219C>A
ENST00000647158.1:c.*630C>A	ENSP00000495744.1:n.*630C>A
ENST00000302539.8:c.2492C>A	ENSP00000303960.4:p.Ser831Tyr
ENST00000389817.7:c.2489C>A	ENSP00000374467.3:p.Ser830Tyr
ENST00000526921.5:n.173C>A
ENST00000527905.5:c.2459C>A	ENSP00000431653.1:p.Ser820Tyr
ENST00000529967.5:n.158C>A
ENST00000530147.5:n.72C>A
ENST00000531911.1:n.603C>A
NM_000352.4:c.2489C>A	NP_000343.2:p.Ser830Tyr
NM_001287174.1:c.2492C>A	NP_001274103.1:p.Ser831Tyr
XM_011520331.1:c.2489C>A	XP_011518633.1:p.Ser830Tyr
XM_011520332.1:c.2492C>A	XP_011518634.1:p.Ser831Tyr
XM_011520333.1:c.989C>A	XP_011518635.1:p.Ser330Tyr
XM_011520334.1:c.2492C>A	XP_011518636.1:p.Ser831Tyr
XR_930890.1:n.2555C>A
XR_930891.1:n.2555C>A
XR_930892.1:n.2555C>A
XR_930893.1:n.2552C>A
NM_001351295.1:c.2555C>A	NP_001338224.1:p.Ser852Tyr
NM_001351296.1:c.2489C>A	NP_001338225.1:p.Ser830Tyr
NM_001351297.1:c.2486C>A	NP_001338226.1:p.Ser829Tyr
NR_147094.1:n.2558C>A
XM_017018197.2:c.2558C>A	XP_016873686.1:p.Ser853Tyr
XM_017018199.1:c.2555C>A	XP_016873688.1:p.Ser852Tyr
XM_017018201.2:c.2558C>A	XP_016873690.1:p.Ser853Tyr
XM_017018202.1:c.1055C>A	XP_016873691.1:p.Ser352Tyr
XM_017018204.1:c.446C>A	XP_016873693.1:p.Ser149Tyr
XM_024448668.1:c.857C>A	XP_024304436.1:p.Ser286Tyr
XR_001747945.2:n.2630C>A
XR_001747946.2:n.2561C>A
XR_002957189.1:n.2630C>A
NM_000352.6:c.2489C>A MANE Select	NP_000343.2:p.Ser830Tyr
NM_001287174.2:c.2492C>A	NP_001274103.1:p.Ser831Tyr
NM_001351295.2:c.2555C>A	NP_001338224.1:p.Ser852Tyr
NM_001351296.2:c.2489C>A	NP_001338225.1:p.Ser830Tyr
NM_001351297.2:c.2486C>A	NP_001338226.1:p.Ser829Tyr
NR_147094.2:n.2558C>A
NM_001287174.3:c.2492C>A	NP_001274103.1:p.Ser831Tyr