Canonical Allele Identifier: CA379807388

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434229G>T (hg19) ; chr11:g.17412682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412682G>T , CM000673.2:g.17412682G>T	GRCh38
NC_000011.9:g.17434229G>T , CM000673.1:g.17434229G>T	GRCh37
NC_000011.8:g.17390805G>T	NCBI36
NG_008867.1:g.69221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2209C>A
ENST00000529967.6:n.799C>A
ENST00000642611.2:n.2609C>A
ENST00000682051.1:n.2556C>A
ENST00000682110.1:n.2609C>A
ENST00000682140.1:c.2537C>A	ENSP00000507829.1:p.Ala846Asp
ENST00000682185.1:n.3845C>A
ENST00000682204.1:c.*678C>A	ENSP00000507094.1:n.*678C>A
ENST00000682215.1:n.2606C>A
ENST00000682288.1:c.*971C>A	ENSP00000507506.1:n.*971C>A
ENST00000682442.1:n.2730C>A
ENST00000682528.1:n.2606C>A
ENST00000682673.1:n.2553C>A
ENST00000682805.1:n.2606C>A
ENST00000682965.1:c.2537C>A	ENSP00000508229.1:p.Ala846Asp
ENST00000683093.1:n.2708C>A
ENST00000683136.1:c.2537C>A	ENSP00000507768.1:p.Ala846Asp
ENST00000683153.1:n.2765C>A
ENST00000683365.1:n.2711C>A
ENST00000683377.1:n.2609C>A
ENST00000683456.1:c.2540C>A	ENSP00000508318.1:p.Ala847Asp
ENST00000683522.1:n.2609C>A
ENST00000683562.1:c.*709C>A	ENSP00000508265.1:n.*709C>A
ENST00000683693.1:n.2606C>A
ENST00000683725.1:c.2540C>A	ENSP00000507496.1:p.Ala847Asp
ENST00000684010.1:n.2524C>A
ENST00000684157.1:n.2609C>A
ENST00000684253.1:n.2512C>A
ENST00000684288.1:c.*712C>A	ENSP00000507143.1:n.*712C>A
ENST00000684313.1:n.2041C>A
ENST00000684332.1:n.2682C>A
ENST00000684371.1:n.2715C>A
ENST00000684404.1:n.2606C>A
ENST00000684442.1:n.2609C>A
ENST00000684555.1:c.*752C>A	ENSP00000507705.1:n.*752C>A
ENST00000684571.1:c.2381C>A	ENSP00000506935.1:p.Ala794Asp
ENST00000684593.1:c.*2245C>A	ENSP00000507005.1:n.*2245C>A
ENST00000684711.1:c.*936C>A	ENSP00000506841.1:n.*936C>A
ENST00000302539.9:c.2543C>A	ENSP00000303960.4:p.Ala848Asp
ENST00000389817.8:c.2540C>A MANE Select	ENSP00000374467.4:p.Ala847Asp
ENST00000642271.1:c.2537C>A	ENSP00000493749.1:p.Ala846Asp
ENST00000642579.1:c.624C>A
ENST00000642611.1:n.2494C>A
ENST00000642902.1:c.2375C>A
ENST00000643260.1:c.2540C>A	ENSP00000494450.1:p.Ala847Asp
ENST00000643562.1:c.*516C>A	ENSP00000496124.1:n.*516C>A
ENST00000643925.1:c.584C>A
ENST00000644447.1:c.896C>A	ENSP00000496282.1:p.Ala299Asp
ENST00000644472.1:c.*901C>A	ENSP00000495378.1:n.*901C>A
ENST00000644484.1:c.*749C>A	ENSP00000493558.1:n.*749C>A
ENST00000644542.1:c.*2245C>A	ENSP00000495532.1:n.*2245C>A
ENST00000644675.1:c.*712C>A	ENSP00000494567.1:n.*712C>A
ENST00000644757.1:c.*845C>A	ENSP00000495085.1:n.*845C>A
ENST00000644772.1:c.2606C>A	ENSP00000494321.1:p.Ala869Asp
ENST00000645076.1:c.1792C>A
ENST00000645744.1:c.*904C>A	ENSP00000494564.1:n.*904C>A
ENST00000645760.1:c.2815C>A
ENST00000645884.1:c.2540C>A	ENSP00000495516.1:p.Ala847Asp
ENST00000646003.1:c.*596C>A	ENSP00000495259.1:n.*596C>A
ENST00000646207.1:c.*904C>A	ENSP00000495025.1:n.*904C>A
ENST00000646276.1:c.*813C>A	ENSP00000496070.1:n.*813C>A
ENST00000646592.1:c.1766C>A
ENST00000646902.1:c.2537C>A	ENSP00000494101.1:p.Ala846Asp
ENST00000646993.1:c.*936C>A	ENSP00000493720.1:n.*936C>A
ENST00000647013.1:c.2546C>A	ENSP00000496741.1:n.2546C>A
ENST00000647015.1:c.2291C>A	ENSP00000495389.1:p.Ala764Asp
ENST00000647086.1:c.*2270C>A	ENSP00000493677.1:n.*2270C>A
ENST00000647158.1:c.*681C>A	ENSP00000495744.1:n.*681C>A
ENST00000302539.8:c.2543C>A	ENSP00000303960.4:p.Ala848Asp
ENST00000389817.7:c.2540C>A	ENSP00000374467.3:p.Ala847Asp
ENST00000526921.5:n.224C>A
ENST00000527905.5:c.2510C>A	ENSP00000431653.1:p.Ala837Asp
ENST00000529967.5:n.209C>A
ENST00000530147.5:n.123C>A
ENST00000531911.1:n.654C>A
NM_000352.4:c.2540C>A	NP_000343.2:p.Ala847Asp
NM_001287174.1:c.2543C>A	NP_001274103.1:p.Ala848Asp
XM_011520331.1:c.2540C>A	XP_011518633.1:p.Ala847Asp
XM_011520332.1:c.2543C>A	XP_011518634.1:p.Ala848Asp
XM_011520333.1:c.1040C>A	XP_011518635.1:p.Ala347Asp
XM_011520334.1:c.2543C>A	XP_011518636.1:p.Ala848Asp
XR_930890.1:n.2606C>A
XR_930891.1:n.2606C>A
XR_930892.1:n.2606C>A
XR_930893.1:n.2603C>A
NM_001351295.1:c.2606C>A	NP_001338224.1:p.Ala869Asp
NM_001351296.1:c.2540C>A	NP_001338225.1:p.Ala847Asp
NM_001351297.1:c.2537C>A	NP_001338226.1:p.Ala846Asp
NR_147094.1:n.2609C>A
XM_017018197.2:c.2609C>A	XP_016873686.1:p.Ala870Asp
XM_017018199.1:c.2606C>A	XP_016873688.1:p.Ala869Asp
XM_017018201.2:c.2609C>A	XP_016873690.1:p.Ala870Asp
XM_017018202.1:c.1106C>A	XP_016873691.1:p.Ala369Asp
XM_017018204.1:c.497C>A	XP_016873693.1:p.Ala166Asp
XM_024448668.1:c.908C>A	XP_024304436.1:p.Ala303Asp
XR_001747945.2:n.2681C>A
XR_001747946.2:n.2612C>A
XR_002957189.1:n.2681C>A
NM_000352.6:c.2540C>A MANE Select	NP_000343.2:p.Ala847Asp
NM_001287174.2:c.2543C>A	NP_001274103.1:p.Ala848Asp
NM_001351295.2:c.2606C>A	NP_001338224.1:p.Ala869Asp
NM_001351296.2:c.2540C>A	NP_001338225.1:p.Ala847Asp
NM_001351297.2:c.2537C>A	NP_001338226.1:p.Ala846Asp
NR_147094.2:n.2609C>A
NM_001287174.3:c.2543C>A	NP_001274103.1:p.Ala848Asp