Canonical Allele Identifier: CA379807433

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412689-G-C
• MyVariant Identifiers: chr11:g.17434236G>C (hg19) ; chr11:g.17412689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412689G>C , CM000673.2:g.17412689G>C	GRCh38
NC_000011.9:g.17434236G>C , CM000673.1:g.17434236G>C	GRCh37
NC_000011.8:g.17390812G>C	NCBI36
NG_008867.1:g.69214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2202C>G
ENST00000529967.6:n.792C>G
ENST00000642611.2:n.2602C>G
ENST00000682051.1:n.2549C>G
ENST00000682110.1:n.2602C>G
ENST00000682140.1:c.2530C>G	ENSP00000507829.1:p.Gln844Glu
ENST00000682185.1:n.3838C>G
ENST00000682204.1:c.*671C>G	ENSP00000507094.1:n.*671C>G
ENST00000682215.1:n.2599C>G
ENST00000682288.1:c.*964C>G	ENSP00000507506.1:n.*964C>G
ENST00000682442.1:n.2723C>G
ENST00000682528.1:n.2599C>G
ENST00000682673.1:n.2546C>G
ENST00000682805.1:n.2599C>G
ENST00000682965.1:c.2530C>G	ENSP00000508229.1:p.Gln844Glu
ENST00000683093.1:n.2701C>G
ENST00000683136.1:c.2530C>G	ENSP00000507768.1:p.Gln844Glu
ENST00000683153.1:n.2758C>G
ENST00000683365.1:n.2704C>G
ENST00000683377.1:n.2602C>G
ENST00000683456.1:c.2533C>G	ENSP00000508318.1:p.Gln845Glu
ENST00000683522.1:n.2602C>G
ENST00000683562.1:c.*702C>G	ENSP00000508265.1:n.*702C>G
ENST00000683693.1:n.2599C>G
ENST00000683725.1:c.2533C>G	ENSP00000507496.1:p.Gln845Glu
ENST00000684010.1:n.2517C>G
ENST00000684157.1:n.2602C>G
ENST00000684253.1:n.2505C>G
ENST00000684288.1:c.*705C>G	ENSP00000507143.1:n.*705C>G
ENST00000684313.1:n.2034C>G
ENST00000684332.1:n.2675C>G
ENST00000684371.1:n.2708C>G
ENST00000684404.1:n.2599C>G
ENST00000684442.1:n.2602C>G
ENST00000684555.1:c.*745C>G	ENSP00000507705.1:n.*745C>G
ENST00000684571.1:c.2374C>G	ENSP00000506935.1:p.Gln792Glu
ENST00000684593.1:c.*2238C>G	ENSP00000507005.1:n.*2238C>G
ENST00000684711.1:c.*929C>G	ENSP00000506841.1:n.*929C>G
ENST00000302539.9:c.2536C>G	ENSP00000303960.4:p.Gln846Glu
ENST00000389817.8:c.2533C>G MANE Select	ENSP00000374467.4:p.Gln845Glu
ENST00000642271.1:c.2530C>G	ENSP00000493749.1:p.Gln844Glu
ENST00000642579.1:c.617C>G
ENST00000642611.1:n.2487C>G
ENST00000642902.1:c.2368C>G
ENST00000643260.1:c.2533C>G	ENSP00000494450.1:p.Gln845Glu
ENST00000643562.1:c.*509C>G	ENSP00000496124.1:n.*509C>G
ENST00000643925.1:c.577C>G
ENST00000644447.1:c.889C>G	ENSP00000496282.1:p.Gln297Glu
ENST00000644472.1:c.*894C>G	ENSP00000495378.1:n.*894C>G
ENST00000644484.1:c.*742C>G	ENSP00000493558.1:n.*742C>G
ENST00000644542.1:c.*2238C>G	ENSP00000495532.1:n.*2238C>G
ENST00000644675.1:c.*705C>G	ENSP00000494567.1:n.*705C>G
ENST00000644757.1:c.*838C>G	ENSP00000495085.1:n.*838C>G
ENST00000644772.1:c.2599C>G	ENSP00000494321.1:p.Gln867Glu
ENST00000645076.1:c.1785C>G
ENST00000645744.1:c.*897C>G	ENSP00000494564.1:n.*897C>G
ENST00000645760.1:c.2808C>G
ENST00000645884.1:c.2533C>G	ENSP00000495516.1:p.Gln845Glu
ENST00000646003.1:c.*589C>G	ENSP00000495259.1:n.*589C>G
ENST00000646207.1:c.*897C>G	ENSP00000495025.1:n.*897C>G
ENST00000646276.1:c.*806C>G	ENSP00000496070.1:n.*806C>G
ENST00000646592.1:c.1759C>G
ENST00000646902.1:c.2530C>G	ENSP00000494101.1:p.Gln844Glu
ENST00000646993.1:c.*929C>G	ENSP00000493720.1:n.*929C>G
ENST00000647013.1:c.2539C>G	ENSP00000496741.1:n.2539C>G
ENST00000647015.1:c.2284C>G	ENSP00000495389.1:p.Gln762Glu
ENST00000647086.1:c.*2263C>G	ENSP00000493677.1:n.*2263C>G
ENST00000647158.1:c.*674C>G	ENSP00000495744.1:n.*674C>G
ENST00000302539.8:c.2536C>G	ENSP00000303960.4:p.Gln846Glu
ENST00000389817.7:c.2533C>G	ENSP00000374467.3:p.Gln845Glu
ENST00000526921.5:n.217C>G
ENST00000527905.5:c.2503C>G	ENSP00000431653.1:p.Gln835Glu
ENST00000529967.5:n.202C>G
ENST00000530147.5:n.116C>G
ENST00000531911.1:n.647C>G
NM_000352.4:c.2533C>G	NP_000343.2:p.Gln845Glu
NM_001287174.1:c.2536C>G	NP_001274103.1:p.Gln846Glu
XM_011520331.1:c.2533C>G	XP_011518633.1:p.Gln845Glu
XM_011520332.1:c.2536C>G	XP_011518634.1:p.Gln846Glu
XM_011520333.1:c.1033C>G	XP_011518635.1:p.Gln345Glu
XM_011520334.1:c.2536C>G	XP_011518636.1:p.Gln846Glu
XR_930890.1:n.2599C>G
XR_930891.1:n.2599C>G
XR_930892.1:n.2599C>G
XR_930893.1:n.2596C>G
NM_001351295.1:c.2599C>G	NP_001338224.1:p.Gln867Glu
NM_001351296.1:c.2533C>G	NP_001338225.1:p.Gln845Glu
NM_001351297.1:c.2530C>G	NP_001338226.1:p.Gln844Glu
NR_147094.1:n.2602C>G
XM_017018197.2:c.2602C>G	XP_016873686.1:p.Gln868Glu
XM_017018199.1:c.2599C>G	XP_016873688.1:p.Gln867Glu
XM_017018201.2:c.2602C>G	XP_016873690.1:p.Gln868Glu
XM_017018202.1:c.1099C>G	XP_016873691.1:p.Gln367Glu
XM_017018204.1:c.490C>G	XP_016873693.1:p.Gln164Glu
XM_024448668.1:c.901C>G	XP_024304436.1:p.Gln301Glu
XR_001747945.2:n.2674C>G
XR_001747946.2:n.2605C>G
XR_002957189.1:n.2674C>G
NM_000352.6:c.2533C>G MANE Select	NP_000343.2:p.Gln845Glu
NM_001287174.2:c.2536C>G	NP_001274103.1:p.Gln846Glu
NM_001351295.2:c.2599C>G	NP_001338224.1:p.Gln867Glu
NM_001351296.2:c.2533C>G	NP_001338225.1:p.Gln845Glu
NM_001351297.2:c.2530C>G	NP_001338226.1:p.Gln844Glu
NR_147094.2:n.2602C>G
NM_001287174.3:c.2536C>G	NP_001274103.1:p.Gln846Glu