Canonical Allele Identifier: CA473301272

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434261T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412714T>A , CM000673.2:g.17412714T>A	GRCh38
NC_000011.9:g.17434261T>A , CM000673.1:g.17434261T>A	GRCh37
NC_000011.8:g.17390837T>A	NCBI36
NG_008867.1:g.69189A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2177A>T
ENST00000529967.6:n.767A>T
ENST00000642611.2:n.2577A>T
ENST00000682051.1:n.2524A>T
ENST00000682110.1:n.2577A>T
ENST00000682140.1:c.2505A>T	ENSP00000507829.1:p.Arg835=
ENST00000682185.1:n.3813A>T
ENST00000682204.1:c.*646A>T	ENSP00000507094.1:n.*646A>T
ENST00000682215.1:n.2574A>T
ENST00000682288.1:c.*939A>T	ENSP00000507506.1:n.*939A>T
ENST00000682442.1:n.2698A>T
ENST00000682528.1:n.2574A>T
ENST00000682673.1:n.2521A>T
ENST00000682805.1:n.2574A>T
ENST00000682965.1:c.2505A>T	ENSP00000508229.1:p.Arg835=
ENST00000683093.1:n.2676A>T
ENST00000683136.1:c.2505A>T	ENSP00000507768.1:p.Arg835=
ENST00000683153.1:n.2733A>T
ENST00000683365.1:n.2679A>T
ENST00000683377.1:n.2577A>T
ENST00000683456.1:c.2508A>T	ENSP00000508318.1:p.Arg836=
ENST00000683522.1:n.2577A>T
ENST00000683562.1:c.*677A>T	ENSP00000508265.1:n.*677A>T
ENST00000683693.1:n.2574A>T
ENST00000683725.1:c.2508A>T	ENSP00000507496.1:p.Arg836=
ENST00000684010.1:n.2492A>T
ENST00000684157.1:n.2577A>T
ENST00000684253.1:n.2480A>T
ENST00000684288.1:c.*680A>T	ENSP00000507143.1:n.*680A>T
ENST00000684313.1:n.2009A>T
ENST00000684332.1:n.2650A>T
ENST00000684371.1:n.2683A>T
ENST00000684404.1:n.2574A>T
ENST00000684442.1:n.2577A>T
ENST00000684555.1:c.*720A>T	ENSP00000507705.1:n.*720A>T
ENST00000684571.1:c.2349A>T	ENSP00000506935.1:p.Arg783=
ENST00000684593.1:c.*2213A>T	ENSP00000507005.1:n.*2213A>T
ENST00000684711.1:c.*904A>T	ENSP00000506841.1:n.*904A>T
ENST00000302539.9:c.2511A>T	ENSP00000303960.4:p.Arg837=
ENST00000389817.8:c.2508A>T MANE Select	ENSP00000374467.4:p.Arg836=
ENST00000642271.1:c.2505A>T	ENSP00000493749.1:p.Arg835=
ENST00000642579.1:c.592A>T
ENST00000642611.1:n.2462A>T
ENST00000642902.1:c.2343A>T
ENST00000643260.1:c.2508A>T	ENSP00000494450.1:p.Arg836=
ENST00000643562.1:c.*484A>T	ENSP00000496124.1:n.*484A>T
ENST00000643925.1:c.552A>T
ENST00000644447.1:c.864A>T	ENSP00000496282.1:p.Arg288=
ENST00000644472.1:c.*869A>T	ENSP00000495378.1:n.*869A>T
ENST00000644484.1:c.*717A>T	ENSP00000493558.1:n.*717A>T
ENST00000644542.1:c.*2213A>T	ENSP00000495532.1:n.*2213A>T
ENST00000644675.1:c.*680A>T	ENSP00000494567.1:n.*680A>T
ENST00000644757.1:c.*813A>T	ENSP00000495085.1:n.*813A>T
ENST00000644772.1:c.2574A>T	ENSP00000494321.1:p.Arg858=
ENST00000645076.1:c.1760A>T
ENST00000645744.1:c.*872A>T	ENSP00000494564.1:n.*872A>T
ENST00000645760.1:c.2783A>T
ENST00000645884.1:c.2508A>T	ENSP00000495516.1:p.Arg836=
ENST00000646003.1:c.*564A>T	ENSP00000495259.1:n.*564A>T
ENST00000646207.1:c.*872A>T	ENSP00000495025.1:n.*872A>T
ENST00000646276.1:c.*781A>T	ENSP00000496070.1:n.*781A>T
ENST00000646592.1:c.1734A>T
ENST00000646902.1:c.2505A>T	ENSP00000494101.1:p.Arg835=
ENST00000646993.1:c.*904A>T	ENSP00000493720.1:n.*904A>T
ENST00000647013.1:c.2514A>T	ENSP00000496741.1:n.2514A>T
ENST00000647015.1:c.2259A>T	ENSP00000495389.1:p.Arg753=
ENST00000647086.1:c.*2238A>T	ENSP00000493677.1:n.*2238A>T
ENST00000647158.1:c.*649A>T	ENSP00000495744.1:n.*649A>T
ENST00000302539.8:c.2511A>T	ENSP00000303960.4:p.Arg837=
ENST00000389817.7:c.2508A>T	ENSP00000374467.3:p.Arg836=
ENST00000526921.5:n.192A>T
ENST00000527905.5:c.2478A>T	ENSP00000431653.1:p.Arg826=
ENST00000529967.5:n.177A>T
ENST00000530147.5:n.91A>T
ENST00000531911.1:n.622A>T
NM_000352.4:c.2508A>T	NP_000343.2:p.Arg836=
NM_001287174.1:c.2511A>T	NP_001274103.1:p.Arg837=
XM_011520331.1:c.2508A>T	XP_011518633.1:p.Arg836=
XM_011520332.1:c.2511A>T	XP_011518634.1:p.Arg837=
XM_011520333.1:c.1008A>T	XP_011518635.1:p.Arg336=
XM_011520334.1:c.2511A>T	XP_011518636.1:p.Arg837=
XR_930890.1:n.2574A>T
XR_930891.1:n.2574A>T
XR_930892.1:n.2574A>T
XR_930893.1:n.2571A>T
NM_001351295.1:c.2574A>T	NP_001338224.1:p.Arg858=
NM_001351296.1:c.2508A>T	NP_001338225.1:p.Arg836=
NM_001351297.1:c.2505A>T	NP_001338226.1:p.Arg835=
NR_147094.1:n.2577A>T
XM_017018197.2:c.2577A>T	XP_016873686.1:p.Arg859=
XM_017018199.1:c.2574A>T	XP_016873688.1:p.Arg858=
XM_017018201.2:c.2577A>T	XP_016873690.1:p.Arg859=
XM_017018202.1:c.1074A>T	XP_016873691.1:p.Arg358=
XM_017018204.1:c.465A>T	XP_016873693.1:p.Arg155=
XM_024448668.1:c.876A>T	XP_024304436.1:p.Arg292=
XR_001747945.2:n.2649A>T
XR_001747946.2:n.2580A>T
XR_002957189.1:n.2649A>T
NM_000352.6:c.2508A>T MANE Select	NP_000343.2:p.Arg836=
NM_001287174.2:c.2511A>T	NP_001274103.1:p.Arg837=
NM_001351295.2:c.2574A>T	NP_001338224.1:p.Arg858=
NM_001351296.2:c.2508A>T	NP_001338225.1:p.Arg836=
NM_001351297.2:c.2505A>T	NP_001338226.1:p.Arg835=
NR_147094.2:n.2577A>T
NM_001287174.3:c.2511A>T	NP_001274103.1:p.Arg837=