Canonical Allele Identifier: CA379793881

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17398338C>T , CM000673.2:g.17398338C>T	GRCh38
NC_000011.9:g.17419885C>T , CM000673.1:g.17419885C>T	GRCh37
NC_000011.8:g.17376461C>T	NCBI36
NG_008867.1:g.83565G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3753+1G>A MANE Select	NP_000343.2:n.3753+1G>A
ENST00000389817.8:c.3753+1G>A MANE Select	ENSP00000374467.4:n.3753+1G>A
NM_000352.4:c.3753+1G>A	NP_000343.2:n.3753+1G>A
NM_001287174.1:c.3756+1G>A	NP_001274103.1:n.3756+1G>A
NM_001287174.2:c.3756+1G>A	NP_001274103.1:n.3756+1G>A
NM_001287174.3:c.3756+1G>A	NP_001274103.1:n.3756+1G>A
NM_001351295.1:c.3819+1G>A	NP_001338224.1:n.3819+1G>A
NM_001351295.2:c.3819+1G>A	NP_001338224.1:n.3819+1G>A
NM_001351296.1:c.3753+1G>A	NP_001338225.1:n.3753+1G>A
NM_001351296.2:c.3753+1G>A	NP_001338225.1:n.3753+1G>A
NM_001351297.1:c.3750+1G>A	NP_001338226.1:n.3750+1G>A
NM_001351297.2:c.3750+1G>A	NP_001338226.1:n.3750+1G>A
NR_147094.1:n.3902+1G>A
NR_147094.2:n.3902+1G>A
ENST00000302539.8:c.3756+1G>A	ENSP00000303960.4:n.3756+1G>A
ENST00000302539.9:c.3756+1G>A	ENSP00000303960.4:n.3756+1G>A
ENST00000389817.7:c.3753+1G>A	ENSP00000374467.3:n.3753+1G>A
ENST00000524561.2:n.3322+1G>A
ENST00000527905.5:c.*629+1G>A	ENSP00000431653.1:n.*629+1G>A
ENST00000528374.1:c.223+1G>A
ENST00000528374.2:c.332+1G>A
ENST00000529967.6:n.2092+1G>A
ENST00000531137.1:n.172+1G>A
ENST00000531891.1:c.121+1G>A
ENST00000532220.2:n.1485+1G>A
ENST00000642271.1:c.3750+1G>A	ENSP00000493749.1:n.3750+1G>A
ENST00000642579.1:c.1837+1G>A
ENST00000642611.1:n.3707+1G>A
ENST00000642611.2:n.3822+1G>A
ENST00000642902.1:c.3535+1G>A
ENST00000643260.1:c.3753+1G>A	ENSP00000494450.1:n.3753+1G>A
ENST00000643562.1:c.*1729+1G>A	ENSP00000496124.1:n.*1729+1G>A
ENST00000643925.1:c.1877+1G>A
ENST00000644057.2:n.196+1G>A
ENST00000644447.1:c.2204+1G>A	ENSP00000496282.1:n.2204+1G>A
ENST00000644484.1:c.*2008+1G>A	ENSP00000493558.1:n.*2008+1G>A
ENST00000644675.1:c.*1925+1G>A	ENSP00000494567.1:n.*1925+1G>A
ENST00000644757.1:c.*2038+1G>A	ENSP00000495085.1:n.*2038+1G>A
ENST00000644772.1:c.3819+1G>A	ENSP00000494321.1:n.3819+1G>A
ENST00000645004.1:n.892+1G>A
ENST00000645004.2:n.1252+1G>A
ENST00000645076.1:c.2952+1G>A
ENST00000645417.1:c.941+1G>A
ENST00000645744.1:c.*2017+1G>A	ENSP00000494564.1:n.*2017+1G>A
ENST00000645760.1:c.4028+1G>A
ENST00000645884.1:c.*890+1G>A	ENSP00000495516.1:n.*890+1G>A
ENST00000646003.1:c.*1709+1G>A	ENSP00000495259.1:n.*1709+1G>A
ENST00000646207.1:c.*2220+1G>A	ENSP00000495025.1:n.*2220+1G>A
ENST00000646276.1:c.*2026+1G>A	ENSP00000496070.1:n.*2026+1G>A
ENST00000646592.1:c.3059+1G>A
ENST00000646902.1:c.3750+1G>A	ENSP00000494101.1:n.3750+1G>A
ENST00000646993.1:c.*2149+1G>A	ENSP00000493720.1:n.*2149+1G>A
ENST00000647013.1:c.3759+1G>A	ENSP00000496741.1:n.3759+1G>A
ENST00000647015.1:c.3504+1G>A	ENSP00000495389.1:n.3504+1G>A
ENST00000647086.1:c.*3483+1G>A	ENSP00000493677.1:n.*3483+1G>A
ENST00000647158.1:c.*1894+1G>A	ENSP00000495744.1:n.*1894+1G>A
ENST00000682051.1:n.3769+1G>A
ENST00000682110.1:n.3822+1G>A
ENST00000682140.1:c.3750+1G>A	ENSP00000507829.1:n.3750+1G>A
ENST00000682185.1:n.5058+1G>A
ENST00000682204.1:c.*1891+1G>A	ENSP00000507094.1:n.*1891+1G>A
ENST00000682215.1:n.3819+1G>A
ENST00000682288.1:c.*2184+1G>A	ENSP00000507506.1:n.*2184+1G>A
ENST00000682442.1:n.4042+1G>A
ENST00000682528.1:n.3899+1G>A
ENST00000682673.1:n.3766+1G>A
ENST00000682805.1:n.3819+1G>A
ENST00000682965.1:c.*175+1G>A	ENSP00000508229.1:n.*175+1G>A
ENST00000683093.1:n.3921+1G>A
ENST00000683136.1:c.3750+1G>A	ENSP00000507768.1:n.3750+1G>A
ENST00000683153.1:n.3978+1G>A
ENST00000683365.1:n.3924+1G>A
ENST00000683377.1:n.3822+1G>A
ENST00000683456.1:c.*890+1G>A	ENSP00000508318.1:n.*890+1G>A
ENST00000683522.1:n.3822+1G>A
ENST00000683562.1:c.*1922+1G>A	ENSP00000508265.1:n.*1922+1G>A
ENST00000683693.1:n.3899+1G>A
ENST00000683725.1:c.3753+1G>A	ENSP00000507496.1:n.3753+1G>A
ENST00000684010.1:n.3817+1G>A
ENST00000684157.1:n.3822+1G>A
ENST00000684253.1:n.3725+1G>A
ENST00000684288.1:c.*1925+1G>A	ENSP00000507143.1:n.*1925+1G>A
ENST00000684313.1:n.3254+1G>A
ENST00000684332.1:n.3895+1G>A
ENST00000684371.1:n.3928+1G>A
ENST00000684404.1:n.3865+1G>A
ENST00000684442.1:n.3822+1G>A
ENST00000684555.1:c.*1965+1G>A	ENSP00000507705.1:n.*1965+1G>A
ENST00000684571.1:c.3594+1G>A	ENSP00000506935.1:n.3594+1G>A
ENST00000684593.1:c.*3458+1G>A	ENSP00000507005.1:n.*3458+1G>A
ENST00000684711.1:c.*2149+1G>A	ENSP00000506841.1:n.*2149+1G>A
XM_011520331.1:c.3753+1G>A	XP_011518633.1:n.3753+1G>A
XM_011520332.1:c.3756+1G>A	XP_011518634.1:n.3756+1G>A
XM_011520333.1:c.2253+1G>A	XP_011518635.1:n.2253+1G>A
XM_017018197.2:c.3822+1G>A	XP_016873686.1:n.3822+1G>A
XM_017018199.1:c.3819+1G>A	XP_016873688.1:n.3819+1G>A
XM_017018201.2:c.3822+1G>A	XP_016873690.1:n.3822+1G>A
XM_017018202.1:c.2319+1G>A	XP_016873691.1:n.2319+1G>A
XM_017018204.1:c.1710+1G>A	XP_016873693.1:n.1710+1G>A
XM_024448668.1:c.2121+1G>A	XP_024304436.1:n.2121+1G>A
XR_001747945.2:n.3894+1G>A
XR_001747946.2:n.3825+1G>A
XR_002957189.1:n.3974+1G>A
XR_930890.1:n.3819+1G>A
XR_930892.1:n.3720G>A
XR_930893.1:n.3717G>A