Canonical Allele Identifier: CA379807680

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434278C>G (hg19) ; chr11:g.17412731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412731C>G , CM000673.2:g.17412731C>G	GRCh38
NC_000011.9:g.17434278C>G , CM000673.1:g.17434278C>G	GRCh37
NC_000011.8:g.17390854C>G	NCBI36
NG_008867.1:g.69172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2160G>C
ENST00000529967.6:n.750G>C
ENST00000642611.2:n.2560G>C
ENST00000682051.1:n.2507G>C
ENST00000682110.1:n.2560G>C
ENST00000682140.1:c.2488G>C	ENSP00000507829.1:p.Gly830Arg
ENST00000682185.1:n.3796G>C
ENST00000682204.1:c.*629G>C	ENSP00000507094.1:n.*629G>C
ENST00000682215.1:n.2557G>C
ENST00000682288.1:c.*922G>C	ENSP00000507506.1:n.*922G>C
ENST00000682442.1:n.2681G>C
ENST00000682528.1:n.2557G>C
ENST00000682673.1:n.2504G>C
ENST00000682805.1:n.2557G>C
ENST00000682965.1:c.2488G>C	ENSP00000508229.1:p.Gly830Arg
ENST00000683093.1:n.2659G>C
ENST00000683136.1:c.2488G>C	ENSP00000507768.1:p.Gly830Arg
ENST00000683153.1:n.2716G>C
ENST00000683365.1:n.2662G>C
ENST00000683377.1:n.2560G>C
ENST00000683456.1:c.2491G>C	ENSP00000508318.1:p.Gly831Arg
ENST00000683522.1:n.2560G>C
ENST00000683562.1:c.*660G>C	ENSP00000508265.1:n.*660G>C
ENST00000683693.1:n.2557G>C
ENST00000683725.1:c.2491G>C	ENSP00000507496.1:p.Gly831Arg
ENST00000684010.1:n.2475G>C
ENST00000684157.1:n.2560G>C
ENST00000684253.1:n.2463G>C
ENST00000684288.1:c.*663G>C	ENSP00000507143.1:n.*663G>C
ENST00000684313.1:n.1992G>C
ENST00000684332.1:n.2633G>C
ENST00000684371.1:n.2666G>C
ENST00000684404.1:n.2557G>C
ENST00000684442.1:n.2560G>C
ENST00000684555.1:c.*703G>C	ENSP00000507705.1:n.*703G>C
ENST00000684571.1:c.2332G>C	ENSP00000506935.1:p.Gly778Arg
ENST00000684593.1:c.*2196G>C	ENSP00000507005.1:n.*2196G>C
ENST00000684711.1:c.*887G>C	ENSP00000506841.1:n.*887G>C
ENST00000302539.9:c.2494G>C	ENSP00000303960.4:p.Gly832Arg
ENST00000389817.8:c.2491G>C MANE Select	ENSP00000374467.4:p.Gly831Arg
ENST00000642271.1:c.2488G>C	ENSP00000493749.1:p.Gly830Arg
ENST00000642579.1:c.575G>C
ENST00000642611.1:n.2445G>C
ENST00000642902.1:c.2326G>C
ENST00000643260.1:c.2491G>C	ENSP00000494450.1:p.Gly831Arg
ENST00000643562.1:c.*467G>C	ENSP00000496124.1:n.*467G>C
ENST00000643925.1:c.535G>C
ENST00000644447.1:c.847G>C	ENSP00000496282.1:p.Gly283Arg
ENST00000644472.1:c.*852G>C	ENSP00000495378.1:n.*852G>C
ENST00000644484.1:c.*700G>C	ENSP00000493558.1:n.*700G>C
ENST00000644542.1:c.*2196G>C	ENSP00000495532.1:n.*2196G>C
ENST00000644675.1:c.*663G>C	ENSP00000494567.1:n.*663G>C
ENST00000644757.1:c.*796G>C	ENSP00000495085.1:n.*796G>C
ENST00000644772.1:c.2557G>C	ENSP00000494321.1:p.Gly853Arg
ENST00000645076.1:c.1743G>C
ENST00000645744.1:c.*855G>C	ENSP00000494564.1:n.*855G>C
ENST00000645760.1:c.2766G>C
ENST00000645884.1:c.2491G>C	ENSP00000495516.1:p.Gly831Arg
ENST00000646003.1:c.*547G>C	ENSP00000495259.1:n.*547G>C
ENST00000646207.1:c.*855G>C	ENSP00000495025.1:n.*855G>C
ENST00000646276.1:c.*764G>C	ENSP00000496070.1:n.*764G>C
ENST00000646592.1:c.1717G>C
ENST00000646902.1:c.2488G>C	ENSP00000494101.1:p.Gly830Arg
ENST00000646993.1:c.*887G>C	ENSP00000493720.1:n.*887G>C
ENST00000647013.1:c.2497G>C	ENSP00000496741.1:n.2497G>C
ENST00000647015.1:c.2242G>C	ENSP00000495389.1:p.Gly748Arg
ENST00000647086.1:c.*2221G>C	ENSP00000493677.1:n.*2221G>C
ENST00000647158.1:c.*632G>C	ENSP00000495744.1:n.*632G>C
ENST00000302539.8:c.2494G>C	ENSP00000303960.4:p.Gly832Arg
ENST00000389817.7:c.2491G>C	ENSP00000374467.3:p.Gly831Arg
ENST00000526921.5:n.175G>C
ENST00000527905.5:c.2461G>C	ENSP00000431653.1:p.Gly821Arg
ENST00000529967.5:n.160G>C
ENST00000530147.5:n.74G>C
ENST00000531911.1:n.605G>C
NM_000352.4:c.2491G>C	NP_000343.2:p.Gly831Arg
NM_001287174.1:c.2494G>C	NP_001274103.1:p.Gly832Arg
XM_011520331.1:c.2491G>C	XP_011518633.1:p.Gly831Arg
XM_011520332.1:c.2494G>C	XP_011518634.1:p.Gly832Arg
XM_011520333.1:c.991G>C	XP_011518635.1:p.Gly331Arg
XM_011520334.1:c.2494G>C	XP_011518636.1:p.Gly832Arg
XR_930890.1:n.2557G>C
XR_930891.1:n.2557G>C
XR_930892.1:n.2557G>C
XR_930893.1:n.2554G>C
NM_001351295.1:c.2557G>C	NP_001338224.1:p.Gly853Arg
NM_001351296.1:c.2491G>C	NP_001338225.1:p.Gly831Arg
NM_001351297.1:c.2488G>C	NP_001338226.1:p.Gly830Arg
NR_147094.1:n.2560G>C
XM_017018197.2:c.2560G>C	XP_016873686.1:p.Gly854Arg
XM_017018199.1:c.2557G>C	XP_016873688.1:p.Gly853Arg
XM_017018201.2:c.2560G>C	XP_016873690.1:p.Gly854Arg
XM_017018202.1:c.1057G>C	XP_016873691.1:p.Gly353Arg
XM_017018204.1:c.448G>C	XP_016873693.1:p.Gly150Arg
XM_024448668.1:c.859G>C	XP_024304436.1:p.Gly287Arg
XR_001747945.2:n.2632G>C
XR_001747946.2:n.2563G>C
XR_002957189.1:n.2632G>C
NM_000352.6:c.2491G>C MANE Select	NP_000343.2:p.Gly831Arg
NM_001287174.2:c.2494G>C	NP_001274103.1:p.Gly832Arg
NM_001351295.2:c.2557G>C	NP_001338224.1:p.Gly853Arg
NM_001351296.2:c.2491G>C	NP_001338225.1:p.Gly831Arg
NM_001351297.2:c.2488G>C	NP_001338226.1:p.Gly830Arg
NR_147094.2:n.2560G>C
NM_001287174.3:c.2494G>C	NP_001274103.1:p.Gly832Arg