Canonical Allele Identifier: CA5903345

Gene: ABCC8

Linked Data

• dbSNP Id: rs778098935
• ExAC: 11:17449856 C / T
• gnomAD v2: 11-17449856-C-T
• gnomAD v4: 11-17428309-C-T
• MyVariant Identifiers: chr11:g.17449856C>T (hg19) ; chr11:g.17428309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428309C>T , CM000673.2:g.17428309C>T	GRCh38
NC_000011.9:g.17449856C>T , CM000673.1:g.17449856C>T	GRCh37
NC_000011.8:g.17406432C>T	NCBI36
NG_008867.1:g.53594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1689G>A
ENST00000529967.6:n.279G>A
ENST00000642611.2:n.2086G>A
ENST00000682051.1:n.2033G>A
ENST00000682110.1:n.2086G>A
ENST00000682140.1:c.2017G>A	ENSP00000507829.1:p.Ala673Thr
ENST00000682185.1:n.3325G>A
ENST00000682204.1:c.*158G>A	ENSP00000507094.1:n.*158G>A
ENST00000682215.1:n.2086G>A
ENST00000682288.1:c.*448G>A	ENSP00000507506.1:n.*448G>A
ENST00000682442.1:n.2207G>A
ENST00000682528.1:n.2086G>A
ENST00000682673.1:n.2033G>A
ENST00000682805.1:n.2086G>A
ENST00000682965.1:c.2017G>A	ENSP00000508229.1:p.Ala673Thr
ENST00000683093.1:n.2188G>A
ENST00000683136.1:c.2017G>A	ENSP00000507768.1:p.Ala673Thr
ENST00000683153.1:n.2245G>A
ENST00000683253.1:n.3102G>A
ENST00000683365.1:n.2188G>A
ENST00000683377.1:n.2086G>A
ENST00000683456.1:c.2017G>A	ENSP00000508318.1:p.Ala673Thr
ENST00000683522.1:n.2086G>A
ENST00000683562.1:c.*189G>A	ENSP00000508265.1:n.*189G>A
ENST00000683693.1:n.2086G>A
ENST00000683725.1:c.2020G>A	ENSP00000507496.1:p.Ala674Thr
ENST00000684010.1:n.2086G>A
ENST00000684157.1:n.2086G>A
ENST00000684253.1:n.1992G>A
ENST00000684288.1:c.*189G>A	ENSP00000507143.1:n.*189G>A
ENST00000684313.1:n.1724-11347G>A
ENST00000684332.1:n.2159G>A
ENST00000684371.1:n.2192G>A
ENST00000684404.1:n.2086G>A
ENST00000684442.1:n.2086G>A
ENST00000684555.1:c.*229G>A	ENSP00000507705.1:n.*229G>A
ENST00000684571.1:c.1861G>A	ENSP00000506935.1:p.Ala621Thr
ENST00000684593.1:c.*1725G>A	ENSP00000507005.1:n.*1725G>A
ENST00000684711.1:c.*416G>A	ENSP00000506841.1:n.*416G>A
ENST00000302539.9:c.2020G>A	ENSP00000303960.4:p.Ala674Thr
ENST00000389817.8:c.2020G>A MANE Select	ENSP00000374467.4:p.Ala674Thr
ENST00000532728.6:c.1601G>A
ENST00000642271.1:c.2017G>A	ENSP00000493749.1:p.Ala673Thr
ENST00000642579.1:c.101G>A
ENST00000642611.1:n.1971G>A
ENST00000642902.1:c.1855G>A
ENST00000643260.1:c.2017G>A	ENSP00000494450.1:p.Ala673Thr
ENST00000643562.1:c.2012G>A	ENSP00000496124.1:p.Cys671Tyr
ENST00000644447.1:c.373G>A	ENSP00000496282.1:p.Ala125Thr
ENST00000644472.1:c.*381G>A	ENSP00000495378.1:n.*381G>A
ENST00000644484.1:c.*229G>A	ENSP00000493558.1:n.*229G>A
ENST00000644542.1:c.*1722G>A	ENSP00000495532.1:n.*1722G>A
ENST00000644649.1:c.1190G>A
ENST00000644675.1:c.*189G>A	ENSP00000494567.1:n.*189G>A
ENST00000644757.1:c.*322G>A	ENSP00000495085.1:n.*322G>A
ENST00000644772.1:c.2086G>A	ENSP00000494321.1:p.Ala696Thr
ENST00000645076.1:c.1272G>A
ENST00000645744.1:c.*381G>A	ENSP00000494564.1:n.*381G>A
ENST00000645760.1:c.2295G>A
ENST00000645884.1:c.2017G>A	ENSP00000495516.1:p.Ala673Thr
ENST00000646003.1:c.*158G>A	ENSP00000495259.1:n.*158G>A
ENST00000646207.1:c.*381G>A	ENSP00000495025.1:n.*381G>A
ENST00000646276.1:c.*290G>A	ENSP00000496070.1:n.*290G>A
ENST00000646592.1:c.1243G>A
ENST00000646902.1:c.2017G>A	ENSP00000494101.1:p.Ala673Thr
ENST00000646993.1:c.*416G>A	ENSP00000493720.1:n.*416G>A
ENST00000647013.1:c.2023G>A	ENSP00000496741.1:n.2023G>A
ENST00000647015.1:c.1768G>A	ENSP00000495389.1:p.Ala590Thr
ENST00000647086.1:c.*1747G>A	ENSP00000493677.1:n.*1747G>A
ENST00000647158.1:c.*158G>A	ENSP00000495744.1:n.*158G>A
ENST00000302539.8:c.2020G>A	ENSP00000303960.4:p.Ala674Thr
ENST00000389817.7:c.2020G>A	ENSP00000374467.3:p.Ala674Thr
ENST00000527905.5:c.1990G>A	ENSP00000431653.1:p.Ala664Thr
NM_000352.4:c.2020G>A	NP_000343.2:p.Ala674Thr
NM_001287174.1:c.2020G>A	NP_001274103.1:p.Ala674Thr
XM_011520331.1:c.2017G>A	XP_011518633.1:p.Ala673Thr
XM_011520332.1:c.2020G>A	XP_011518634.1:p.Ala674Thr
XM_011520333.1:c.517G>A	XP_011518635.1:p.Ala173Thr
XM_011520334.1:c.2020G>A	XP_011518636.1:p.Ala674Thr
XR_930890.1:n.2083G>A
XR_930891.1:n.2083G>A
XR_930892.1:n.2083G>A
XR_930893.1:n.2083G>A
NM_001351295.1:c.2086G>A	NP_001338224.1:p.Ala696Thr
NM_001351296.1:c.2017G>A	NP_001338225.1:p.Ala673Thr
NM_001351297.1:c.2017G>A	NP_001338226.1:p.Ala673Thr
NR_147094.1:n.2086G>A
XM_017018197.2:c.2086G>A	XP_016873686.1:p.Ala696Thr
XM_017018199.1:c.2083G>A	XP_016873688.1:p.Ala695Thr
XM_017018201.2:c.2086G>A	XP_016873690.1:p.Ala696Thr
XM_017018202.1:c.583G>A	XP_016873691.1:p.Ala195Thr
XM_017018204.1:c.-24G>A	XP_016873693.1:n.-24G>A
XM_024448668.1:c.385G>A	XP_024304436.1:p.Ala129Thr
XR_001747945.2:n.2158G>A
XR_001747946.2:n.2092G>A
XR_002957189.1:n.2158G>A
NM_000352.6:c.2020G>A MANE Select	NP_000343.2:p.Ala674Thr
NM_001287174.2:c.2020G>A	NP_001274103.1:p.Ala674Thr
NM_001351295.2:c.2086G>A	NP_001338224.1:p.Ala696Thr
NM_001351296.2:c.2017G>A	NP_001338225.1:p.Ala673Thr
NM_001351297.2:c.2017G>A	NP_001338226.1:p.Ala673Thr
NR_147094.2:n.2086G>A
NM_001287174.3:c.2020G>A	NP_001274103.1:p.Ala674Thr