Canonical Allele Identifier: CA379810693

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17415303C>T , CM000673.2:g.17415303C>T	GRCh38
NC_000011.9:g.17436850C>T , CM000673.1:g.17436850C>T	GRCh37
NC_000011.8:g.17393426C>T	NCBI36
NG_008867.1:g.66600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2291+1G>A MANE Select	NP_000343.2:n.2291+1G>A
ENST00000389817.8:c.2291+1G>A MANE Select	ENSP00000374467.4:n.2291+1G>A
NM_000352.4:c.2291+1G>A	NP_000343.2:n.2291+1G>A
NM_001287174.1:c.2294+1G>A	NP_001274103.1:n.2294+1G>A
NM_001287174.2:c.2294+1G>A	NP_001274103.1:n.2294+1G>A
NM_001287174.3:c.2294+1G>A	NP_001274103.1:n.2294+1G>A
NM_001351295.1:c.2357+1G>A	NP_001338224.1:n.2357+1G>A
NM_001351295.2:c.2357+1G>A	NP_001338224.1:n.2357+1G>A
NM_001351296.1:c.2291+1G>A	NP_001338225.1:n.2291+1G>A
NM_001351296.2:c.2291+1G>A	NP_001338225.1:n.2291+1G>A
NM_001351297.1:c.2288+1G>A	NP_001338226.1:n.2288+1G>A
NM_001351297.2:c.2288+1G>A	NP_001338226.1:n.2288+1G>A
NR_147094.1:n.2360+1G>A
NR_147094.2:n.2360+1G>A
ENST00000302539.8:c.2294+1G>A	ENSP00000303960.4:n.2294+1G>A
ENST00000302539.9:c.2294+1G>A	ENSP00000303960.4:n.2294+1G>A
ENST00000389817.7:c.2291+1G>A	ENSP00000374467.3:n.2291+1G>A
ENST00000524561.2:n.1960+1G>A
ENST00000527905.5:c.2261+1G>A	ENSP00000431653.1:n.2261+1G>A
ENST00000529967.6:n.550+1G>A
ENST00000531911.1:n.405+1G>A
ENST00000642271.1:c.2288+1G>A	ENSP00000493749.1:n.2288+1G>A
ENST00000642579.1:c.375+1G>A
ENST00000642611.1:n.2245+1G>A
ENST00000642611.2:n.2360+1G>A
ENST00000642902.1:c.2126+1G>A
ENST00000643260.1:c.2291+1G>A	ENSP00000494450.1:n.2291+1G>A
ENST00000643562.1:c.*267+1G>A	ENSP00000496124.1:n.*267+1G>A
ENST00000643925.1:c.231+1G>A
ENST00000644447.1:c.647+1G>A	ENSP00000496282.1:n.647+1G>A
ENST00000644472.1:c.*652+1G>A	ENSP00000495378.1:n.*652+1G>A
ENST00000644484.1:c.*500+1G>A	ENSP00000493558.1:n.*500+1G>A
ENST00000644542.1:c.*1996+1G>A	ENSP00000495532.1:n.*1996+1G>A
ENST00000644675.1:c.*463+1G>A	ENSP00000494567.1:n.*463+1G>A
ENST00000644757.1:c.*596+1G>A	ENSP00000495085.1:n.*596+1G>A
ENST00000644772.1:c.2357+1G>A	ENSP00000494321.1:n.2357+1G>A
ENST00000645076.1:c.1543+1G>A
ENST00000645744.1:c.*655+1G>A	ENSP00000494564.1:n.*655+1G>A
ENST00000645760.1:c.2566+1G>A
ENST00000645884.1:c.2291+1G>A	ENSP00000495516.1:n.2291+1G>A
ENST00000646003.1:c.*432+1G>A	ENSP00000495259.1:n.*432+1G>A
ENST00000646207.1:c.*655+1G>A	ENSP00000495025.1:n.*655+1G>A
ENST00000646276.1:c.*564+1G>A	ENSP00000496070.1:n.*564+1G>A
ENST00000646592.1:c.1517+1G>A
ENST00000646902.1:c.2288+1G>A	ENSP00000494101.1:n.2288+1G>A
ENST00000646993.1:c.*687+1G>A	ENSP00000493720.1:n.*687+1G>A
ENST00000647013.1:c.2297+1G>A	ENSP00000496741.1:n.2297+1G>A
ENST00000647015.1:c.2042+1G>A	ENSP00000495389.1:n.2042+1G>A
ENST00000647086.1:c.*2021+1G>A	ENSP00000493677.1:n.*2021+1G>A
ENST00000647158.1:c.*432+1G>A	ENSP00000495744.1:n.*432+1G>A
ENST00000682051.1:n.2307+1G>A
ENST00000682110.1:n.2360+1G>A
ENST00000682140.1:c.2288+1G>A	ENSP00000507829.1:n.2288+1G>A
ENST00000682185.1:n.3596+1G>A
ENST00000682204.1:c.*429+1G>A	ENSP00000507094.1:n.*429+1G>A
ENST00000682215.1:n.2357+1G>A
ENST00000682288.1:c.*722+1G>A	ENSP00000507506.1:n.*722+1G>A
ENST00000682442.1:n.2481+1G>A
ENST00000682528.1:n.2357+1G>A
ENST00000682673.1:n.2304+1G>A
ENST00000682805.1:n.2357+1G>A
ENST00000682965.1:c.2288+1G>A	ENSP00000508229.1:n.2288+1G>A
ENST00000683093.1:n.2459+1G>A
ENST00000683136.1:c.2288+1G>A	ENSP00000507768.1:n.2288+1G>A
ENST00000683153.1:n.2516+1G>A
ENST00000683365.1:n.2462+1G>A
ENST00000683377.1:n.2360+1G>A
ENST00000683456.1:c.2291+1G>A	ENSP00000508318.1:n.2291+1G>A
ENST00000683522.1:n.2360+1G>A
ENST00000683562.1:c.*460+1G>A	ENSP00000508265.1:n.*460+1G>A
ENST00000683693.1:n.2357+1G>A
ENST00000683725.1:c.2291+1G>A	ENSP00000507496.1:n.2291+1G>A
ENST00000684010.1:n.2360+1G>A
ENST00000684157.1:n.2360+1G>A
ENST00000684253.1:n.2263+1G>A
ENST00000684288.1:c.*463+1G>A	ENSP00000507143.1:n.*463+1G>A
ENST00000684313.1:n.1792+1G>A
ENST00000684332.1:n.2433+1G>A
ENST00000684371.1:n.2466+1G>A
ENST00000684404.1:n.2357+1G>A
ENST00000684442.1:n.2360+1G>A
ENST00000684555.1:c.*503+1G>A	ENSP00000507705.1:n.*503+1G>A
ENST00000684571.1:c.2132+1G>A	ENSP00000506935.1:n.2132+1G>A
ENST00000684593.1:c.*1996+1G>A	ENSP00000507005.1:n.*1996+1G>A
ENST00000684711.1:c.*687+1G>A	ENSP00000506841.1:n.*687+1G>A
XM_011520331.1:c.2291+1G>A	XP_011518633.1:n.2291+1G>A
XM_011520332.1:c.2294+1G>A	XP_011518634.1:n.2294+1G>A
XM_011520333.1:c.791+1G>A	XP_011518635.1:n.791+1G>A
XM_011520334.1:c.2294+1G>A	XP_011518636.1:n.2294+1G>A
XM_017018197.2:c.2360+1G>A	XP_016873686.1:n.2360+1G>A
XM_017018199.1:c.2357+1G>A	XP_016873688.1:n.2357+1G>A
XM_017018201.2:c.2360+1G>A	XP_016873690.1:n.2360+1G>A
XM_017018202.1:c.857+1G>A	XP_016873691.1:n.857+1G>A
XM_017018204.1:c.248+1G>A	XP_016873693.1:n.248+1G>A
XM_024448668.1:c.659+1G>A	XP_024304436.1:n.659+1G>A
XR_001747945.2:n.2432+1G>A
XR_001747946.2:n.2363+1G>A
XR_002957189.1:n.2432+1G>A
XR_930890.1:n.2357+1G>A
XR_930891.1:n.2357+1G>A
XR_930892.1:n.2357+1G>A
XR_930893.1:n.2354+1G>A