Canonical Allele Identifier: CA379805196

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429998A>C (hg19) ; chr11:g.17408451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408451A>C , CM000673.2:g.17408451A>C	GRCh38
NC_000011.9:g.17429998A>C , CM000673.1:g.17429998A>C	GRCh37
NC_000011.8:g.17386574A>C	NCBI36
NG_008867.1:g.73452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2430T>G
ENST00000529967.6:n.1020T>G
ENST00000532220.2:n.493T>G
ENST00000642611.2:n.2830T>G
ENST00000682051.1:n.2777T>G
ENST00000682110.1:n.2830T>G
ENST00000682140.1:c.2758T>G	ENSP00000507829.1:p.Cys920Gly
ENST00000682185.1:n.4066T>G
ENST00000682204.1:c.*899T>G	ENSP00000507094.1:n.*899T>G
ENST00000682215.1:n.2827T>G
ENST00000682288.1:c.*1192T>G	ENSP00000507506.1:n.*1192T>G
ENST00000682442.1:n.2951T>G
ENST00000682528.1:n.2827T>G
ENST00000682673.1:n.2774T>G
ENST00000682805.1:n.2827T>G
ENST00000682965.1:c.2758T>G	ENSP00000508229.1:p.Cys920Gly
ENST00000683093.1:n.2929T>G
ENST00000683136.1:c.2758T>G	ENSP00000507768.1:p.Cys920Gly
ENST00000683153.1:n.2986T>G
ENST00000683365.1:n.2932T>G
ENST00000683377.1:n.2830T>G
ENST00000683456.1:c.2761T>G	ENSP00000508318.1:p.Cys921Gly
ENST00000683522.1:n.2830T>G
ENST00000683562.1:c.*930T>G	ENSP00000508265.1:n.*930T>G
ENST00000683693.1:n.2827T>G
ENST00000683725.1:c.2761T>G	ENSP00000507496.1:p.Cys921Gly
ENST00000684010.1:n.2745T>G
ENST00000684157.1:n.2830T>G
ENST00000684253.1:n.2733T>G
ENST00000684288.1:c.*933T>G	ENSP00000507143.1:n.*933T>G
ENST00000684313.1:n.2262T>G
ENST00000684332.1:n.2903T>G
ENST00000684371.1:n.2936T>G
ENST00000684404.1:n.2827T>G
ENST00000684442.1:n.2830T>G
ENST00000684555.1:c.*973T>G	ENSP00000507705.1:n.*973T>G
ENST00000684571.1:c.2602T>G	ENSP00000506935.1:p.Cys868Gly
ENST00000684593.1:c.*2466T>G	ENSP00000507005.1:n.*2466T>G
ENST00000684711.1:c.*1157T>G	ENSP00000506841.1:n.*1157T>G
ENST00000302539.9:c.2764T>G	ENSP00000303960.4:p.Cys922Gly
ENST00000389817.8:c.2761T>G MANE Select	ENSP00000374467.4:p.Cys921Gly
ENST00000642271.1:c.2758T>G	ENSP00000493749.1:p.Cys920Gly
ENST00000642579.1:c.845T>G
ENST00000642611.1:n.2715T>G
ENST00000642902.1:c.2596T>G
ENST00000643260.1:c.2761T>G	ENSP00000494450.1:p.Cys921Gly
ENST00000643562.1:c.*737T>G	ENSP00000496124.1:n.*737T>G
ENST00000643925.1:c.805T>G
ENST00000644447.1:c.1117T>G	ENSP00000496282.1:p.Cys373Gly
ENST00000644472.1:c.*1122T>G	ENSP00000495378.1:n.*1122T>G
ENST00000644484.1:c.*970T>G	ENSP00000493558.1:n.*970T>G
ENST00000644542.1:c.*2466T>G	ENSP00000495532.1:n.*2466T>G
ENST00000644675.1:c.*933T>G	ENSP00000494567.1:n.*933T>G
ENST00000644757.1:c.*1066T>G	ENSP00000495085.1:n.*1066T>G
ENST00000644772.1:c.2827T>G	ENSP00000494321.1:p.Cys943Gly
ENST00000645076.1:c.2013T>G
ENST00000645744.1:c.*1125T>G	ENSP00000494564.1:n.*1125T>G
ENST00000645760.1:c.3036T>G
ENST00000645884.1:c.2761T>G	ENSP00000495516.1:p.Cys921Gly
ENST00000646003.1:c.*817T>G	ENSP00000495259.1:n.*817T>G
ENST00000646207.1:c.*1125T>G	ENSP00000495025.1:n.*1125T>G
ENST00000646276.1:c.*1034T>G	ENSP00000496070.1:n.*1034T>G
ENST00000646592.1:c.1987T>G
ENST00000646902.1:c.2758T>G	ENSP00000494101.1:p.Cys920Gly
ENST00000646993.1:c.*1157T>G	ENSP00000493720.1:n.*1157T>G
ENST00000647013.1:c.2767T>G	ENSP00000496741.1:n.2767T>G
ENST00000647015.1:c.2512T>G	ENSP00000495389.1:p.Cys838Gly
ENST00000647086.1:c.*2491T>G	ENSP00000493677.1:n.*2491T>G
ENST00000647158.1:c.*902T>G	ENSP00000495744.1:n.*902T>G
ENST00000302539.8:c.2764T>G	ENSP00000303960.4:p.Cys922Gly
ENST00000389817.7:c.2761T>G	ENSP00000374467.3:p.Cys921Gly
ENST00000526921.5:n.445T>G
ENST00000527905.5:c.2731T>G	ENSP00000431653.1:p.Cys911Gly
ENST00000529967.5:n.430T>G
NM_000352.4:c.2761T>G	NP_000343.2:p.Cys921Gly
NM_001287174.1:c.2764T>G	NP_001274103.1:p.Cys922Gly
XM_011520331.1:c.2761T>G	XP_011518633.1:p.Cys921Gly
XM_011520332.1:c.2764T>G	XP_011518634.1:p.Cys922Gly
XM_011520333.1:c.1261T>G	XP_011518635.1:p.Cys421Gly
XM_011520334.1:c.2764T>G	XP_011518636.1:p.Cys922Gly
XR_930890.1:n.2827T>G
XR_930891.1:n.2827T>G
XR_930892.1:n.2827T>G
XR_930893.1:n.2824T>G
NM_001351295.1:c.2827T>G	NP_001338224.1:p.Cys943Gly
NM_001351296.1:c.2761T>G	NP_001338225.1:p.Cys921Gly
NM_001351297.1:c.2758T>G	NP_001338226.1:p.Cys920Gly
NR_147094.1:n.2830T>G
XM_017018197.2:c.2830T>G	XP_016873686.1:p.Cys944Gly
XM_017018199.1:c.2827T>G	XP_016873688.1:p.Cys943Gly
XM_017018201.2:c.2830T>G	XP_016873690.1:p.Cys944Gly
XM_017018202.1:c.1327T>G	XP_016873691.1:p.Cys443Gly
XM_017018204.1:c.718T>G	XP_016873693.1:p.Cys240Gly
XM_024448668.1:c.1129T>G	XP_024304436.1:p.Cys377Gly
XR_001747945.2:n.2902T>G
XR_001747946.2:n.2833T>G
XR_002957189.1:n.2902T>G
NM_000352.6:c.2761T>G MANE Select	NP_000343.2:p.Cys921Gly
NM_001287174.2:c.2764T>G	NP_001274103.1:p.Cys922Gly
NM_001351295.2:c.2827T>G	NP_001338224.1:p.Cys943Gly
NM_001351296.2:c.2761T>G	NP_001338225.1:p.Cys921Gly
NM_001351297.2:c.2758T>G	NP_001338226.1:p.Cys920Gly
NR_147094.2:n.2830T>G
NM_001287174.3:c.2764T>G	NP_001274103.1:p.Cys922Gly