Canonical Allele Identifier: CA379807545

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434262C>A (hg19) ; chr11:g.17412715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412715C>A , CM000673.2:g.17412715C>A	GRCh38
NC_000011.9:g.17434262C>A , CM000673.1:g.17434262C>A	GRCh37
NC_000011.8:g.17390838C>A	NCBI36
NG_008867.1:g.69188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2176G>T
ENST00000529967.6:n.766G>T
ENST00000642611.2:n.2576G>T
ENST00000682051.1:n.2523G>T
ENST00000682110.1:n.2576G>T
ENST00000682140.1:c.2504G>T	ENSP00000507829.1:p.Arg835Leu
ENST00000682185.1:n.3812G>T
ENST00000682204.1:c.*645G>T	ENSP00000507094.1:n.*645G>T
ENST00000682215.1:n.2573G>T
ENST00000682288.1:c.*938G>T	ENSP00000507506.1:n.*938G>T
ENST00000682442.1:n.2697G>T
ENST00000682528.1:n.2573G>T
ENST00000682673.1:n.2520G>T
ENST00000682805.1:n.2573G>T
ENST00000682965.1:c.2504G>T	ENSP00000508229.1:p.Arg835Leu
ENST00000683093.1:n.2675G>T
ENST00000683136.1:c.2504G>T	ENSP00000507768.1:p.Arg835Leu
ENST00000683153.1:n.2732G>T
ENST00000683365.1:n.2678G>T
ENST00000683377.1:n.2576G>T
ENST00000683456.1:c.2507G>T	ENSP00000508318.1:p.Arg836Leu
ENST00000683522.1:n.2576G>T
ENST00000683562.1:c.*676G>T	ENSP00000508265.1:n.*676G>T
ENST00000683693.1:n.2573G>T
ENST00000683725.1:c.2507G>T	ENSP00000507496.1:p.Arg836Leu
ENST00000684010.1:n.2491G>T
ENST00000684157.1:n.2576G>T
ENST00000684253.1:n.2479G>T
ENST00000684288.1:c.*679G>T	ENSP00000507143.1:n.*679G>T
ENST00000684313.1:n.2008G>T
ENST00000684332.1:n.2649G>T
ENST00000684371.1:n.2682G>T
ENST00000684404.1:n.2573G>T
ENST00000684442.1:n.2576G>T
ENST00000684555.1:c.*719G>T	ENSP00000507705.1:n.*719G>T
ENST00000684571.1:c.2348G>T	ENSP00000506935.1:p.Arg783Leu
ENST00000684593.1:c.*2212G>T	ENSP00000507005.1:n.*2212G>T
ENST00000684711.1:c.*903G>T	ENSP00000506841.1:n.*903G>T
ENST00000302539.9:c.2510G>T	ENSP00000303960.4:p.Arg837Leu
ENST00000389817.8:c.2507G>T MANE Select	ENSP00000374467.4:p.Arg836Leu
ENST00000642271.1:c.2504G>T	ENSP00000493749.1:p.Arg835Leu
ENST00000642579.1:c.591G>T
ENST00000642611.1:n.2461G>T
ENST00000642902.1:c.2342G>T
ENST00000643260.1:c.2507G>T	ENSP00000494450.1:p.Arg836Leu
ENST00000643562.1:c.*483G>T	ENSP00000496124.1:n.*483G>T
ENST00000643925.1:c.551G>T
ENST00000644447.1:c.863G>T	ENSP00000496282.1:p.Arg288Leu
ENST00000644472.1:c.*868G>T	ENSP00000495378.1:n.*868G>T
ENST00000644484.1:c.*716G>T	ENSP00000493558.1:n.*716G>T
ENST00000644542.1:c.*2212G>T	ENSP00000495532.1:n.*2212G>T
ENST00000644675.1:c.*679G>T	ENSP00000494567.1:n.*679G>T
ENST00000644757.1:c.*812G>T	ENSP00000495085.1:n.*812G>T
ENST00000644772.1:c.2573G>T	ENSP00000494321.1:p.Arg858Leu
ENST00000645076.1:c.1759G>T
ENST00000645744.1:c.*871G>T	ENSP00000494564.1:n.*871G>T
ENST00000645760.1:c.2782G>T
ENST00000645884.1:c.2507G>T	ENSP00000495516.1:p.Arg836Leu
ENST00000646003.1:c.*563G>T	ENSP00000495259.1:n.*563G>T
ENST00000646207.1:c.*871G>T	ENSP00000495025.1:n.*871G>T
ENST00000646276.1:c.*780G>T	ENSP00000496070.1:n.*780G>T
ENST00000646592.1:c.1733G>T
ENST00000646902.1:c.2504G>T	ENSP00000494101.1:p.Arg835Leu
ENST00000646993.1:c.*903G>T	ENSP00000493720.1:n.*903G>T
ENST00000647013.1:c.2513G>T	ENSP00000496741.1:n.2513G>T
ENST00000647015.1:c.2258G>T	ENSP00000495389.1:p.Arg753Leu
ENST00000647086.1:c.*2237G>T	ENSP00000493677.1:n.*2237G>T
ENST00000647158.1:c.*648G>T	ENSP00000495744.1:n.*648G>T
ENST00000302539.8:c.2510G>T	ENSP00000303960.4:p.Arg837Leu
ENST00000389817.7:c.2507G>T	ENSP00000374467.3:p.Arg836Leu
ENST00000526921.5:n.191G>T
ENST00000527905.5:c.2477G>T	ENSP00000431653.1:p.Arg826Leu
ENST00000529967.5:n.176G>T
ENST00000530147.5:n.90G>T
ENST00000531911.1:n.621G>T
NM_000352.4:c.2507G>T	NP_000343.2:p.Arg836Leu
NM_001287174.1:c.2510G>T	NP_001274103.1:p.Arg837Leu
XM_011520331.1:c.2507G>T	XP_011518633.1:p.Arg836Leu
XM_011520332.1:c.2510G>T	XP_011518634.1:p.Arg837Leu
XM_011520333.1:c.1007G>T	XP_011518635.1:p.Arg336Leu
XM_011520334.1:c.2510G>T	XP_011518636.1:p.Arg837Leu
XR_930890.1:n.2573G>T
XR_930891.1:n.2573G>T
XR_930892.1:n.2573G>T
XR_930893.1:n.2570G>T
NM_001351295.1:c.2573G>T	NP_001338224.1:p.Arg858Leu
NM_001351296.1:c.2507G>T	NP_001338225.1:p.Arg836Leu
NM_001351297.1:c.2504G>T	NP_001338226.1:p.Arg835Leu
NR_147094.1:n.2576G>T
XM_017018197.2:c.2576G>T	XP_016873686.1:p.Arg859Leu
XM_017018199.1:c.2573G>T	XP_016873688.1:p.Arg858Leu
XM_017018201.2:c.2576G>T	XP_016873690.1:p.Arg859Leu
XM_017018202.1:c.1073G>T	XP_016873691.1:p.Arg358Leu
XM_017018204.1:c.464G>T	XP_016873693.1:p.Arg155Leu
XM_024448668.1:c.875G>T	XP_024304436.1:p.Arg292Leu
XR_001747945.2:n.2648G>T
XR_001747946.2:n.2579G>T
XR_002957189.1:n.2648G>T
NM_000352.6:c.2507G>T MANE Select	NP_000343.2:p.Arg836Leu
NM_001287174.2:c.2510G>T	NP_001274103.1:p.Arg837Leu
NM_001351295.2:c.2573G>T	NP_001338224.1:p.Arg858Leu
NM_001351296.2:c.2507G>T	NP_001338225.1:p.Arg836Leu
NM_001351297.2:c.2504G>T	NP_001338226.1:p.Arg835Leu
NR_147094.2:n.2576G>T
NM_001287174.3:c.2510G>T	NP_001274103.1:p.Arg837Leu