Canonical Allele Identifier: CA379790204

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396924C>A , CM000673.2:g.17396924C>A	GRCh38
NC_000011.9:g.17418471C>A , CM000673.1:g.17418471C>A	GRCh37
NC_000011.8:g.17375047C>A	NCBI36
NG_008867.1:g.84979G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4111G>T MANE Select	NP_000343.2:p.Gly1371Ter
ENST00000389817.8:c.4111G>T MANE Select	ENSP00000374467.4:p.Gly1371Ter
NM_000352.4:c.4111G>T	NP_000343.2:p.Gly1371Ter
NM_001287174.1:c.4114G>T	NP_001274103.1:p.Gly1372Ter
NM_001287174.2:c.4114G>T	NP_001274103.1:p.Gly1372Ter
NM_001287174.3:c.4114G>T	NP_001274103.1:p.Gly1372Ter
NM_001351295.1:c.4177G>T	NP_001338224.1:p.Gly1393Ter
NM_001351295.2:c.4177G>T	NP_001338224.1:p.Gly1393Ter
NM_001351296.1:c.4111G>T	NP_001338225.1:p.Gly1371Ter
NM_001351296.2:c.4111G>T	NP_001338225.1:p.Gly1371Ter
NM_001351297.1:c.4108G>T	NP_001338226.1:p.Gly1370Ter
NM_001351297.2:c.4108G>T	NP_001338226.1:p.Gly1370Ter
NR_147094.1:n.4406G>T
NR_147094.2:n.4406G>T
ENST00000302539.8:c.4114G>T	ENSP00000303960.4:p.Gly1372Ter
ENST00000302539.9:c.4114G>T	ENSP00000303960.4:p.Gly1372Ter
ENST00000389817.7:c.4111G>T	ENSP00000374467.3:p.Gly1371Ter
ENST00000524561.2:n.3712G>T
ENST00000527905.5:c.*1133G>T	ENSP00000431653.1:n.*1133G>T
ENST00000528374.1:c.593G>T
ENST00000528374.2:c.702G>T
ENST00000529967.6:n.2450G>T
ENST00000532220.1:n.585G>T
ENST00000532220.2:n.2359G>T
ENST00000642271.1:c.4108G>T	ENSP00000493749.1:p.Gly1370Ter
ENST00000642579.1:c.2165G>T
ENST00000642611.1:n.4211G>T
ENST00000642611.2:n.4326G>T
ENST00000642902.1:c.3893G>T
ENST00000643260.1:c.4111G>T	ENSP00000494450.1:p.Gly1371Ter
ENST00000643562.1:c.*2233G>T	ENSP00000496124.1:n.*2233G>T
ENST00000643925.1:c.2751G>T
ENST00000644057.1:n.188G>T
ENST00000644057.2:n.554G>T
ENST00000644484.1:c.*2512G>T	ENSP00000493558.1:n.*2512G>T
ENST00000644675.1:c.*2283G>T	ENSP00000494567.1:n.*2283G>T
ENST00000644757.1:c.*2542G>T	ENSP00000495085.1:n.*2542G>T
ENST00000644772.1:c.4177G>T	ENSP00000494321.1:p.Gly1393Ter
ENST00000645004.1:n.1766G>T
ENST00000645004.2:n.1610G>T
ENST00000645076.1:c.3310G>T
ENST00000645417.1:c.1299G>T
ENST00000645744.1:c.*2891G>T	ENSP00000494564.1:n.*2891G>T
ENST00000645760.1:c.4532G>T
ENST00000645884.1:c.*1394G>T	ENSP00000495516.1:n.*1394G>T
ENST00000646003.1:c.*2213G>T	ENSP00000495259.1:n.*2213G>T
ENST00000646207.1:c.*2948G>T	ENSP00000495025.1:n.*2948G>T
ENST00000646276.1:c.*2530G>T	ENSP00000496070.1:n.*2530G>T
ENST00000646592.1:c.3417G>T
ENST00000646902.1:c.4078G>T	ENSP00000494101.1:p.Gly1360Ter
ENST00000646993.1:c.*2653G>T	ENSP00000493720.1:n.*2653G>T
ENST00000647013.1:c.4117G>T	ENSP00000496741.1:n.4117G>T
ENST00000647015.1:c.3862G>T	ENSP00000495389.1:p.Gly1288Ter
ENST00000647086.1:c.*3697G>T	ENSP00000493677.1:n.*3697G>T
ENST00000647158.1:c.*2398G>T	ENSP00000495744.1:n.*2398G>T
ENST00000682051.1:n.4273G>T
ENST00000682110.1:n.4326G>T
ENST00000682140.1:c.3985+269G>T	ENSP00000507829.1:n.3985+269G>T
ENST00000682185.1:n.5416G>T
ENST00000682204.1:c.*2249G>T	ENSP00000507094.1:n.*2249G>T
ENST00000682215.1:n.4693G>T
ENST00000682288.1:c.*2542G>T	ENSP00000507506.1:n.*2542G>T
ENST00000682442.1:n.4546G>T
ENST00000682528.1:n.4403G>T
ENST00000682673.1:n.4270G>T
ENST00000682805.1:n.4693G>T
ENST00000682965.1:c.*533G>T	ENSP00000508229.1:n.*533G>T
ENST00000683093.1:n.4425G>T
ENST00000683136.1:c.3994G>T	ENSP00000507768.1:p.Gly1332Ter
ENST00000683153.1:n.4368G>T
ENST00000683365.1:n.4428G>T
ENST00000683377.1:n.4326G>T
ENST00000683456.1:c.*1248G>T	ENSP00000508318.1:n.*1248G>T
ENST00000683522.1:n.4326G>T
ENST00000683562.1:c.*2280G>T	ENSP00000508265.1:n.*2280G>T
ENST00000683693.1:n.4773G>T
ENST00000683725.1:c.4111G>T	ENSP00000507496.1:p.Gly1371Ter
ENST00000684010.1:n.4321G>T
ENST00000684157.1:n.4326G>T
ENST00000684253.1:n.4229G>T
ENST00000684288.1:c.*2283G>T	ENSP00000507143.1:n.*2283G>T
ENST00000684313.1:n.3758G>T
ENST00000684332.1:n.4399G>T
ENST00000684371.1:n.4432G>T
ENST00000684404.1:n.4369G>T
ENST00000684442.1:n.4550G>T
ENST00000684555.1:c.*2323G>T	ENSP00000507705.1:n.*2323G>T
ENST00000684571.1:c.3952G>T	ENSP00000506935.1:p.Gly1318Ter
ENST00000684593.1:c.*3816G>T	ENSP00000507005.1:n.*3816G>T
ENST00000684711.1:c.*2507G>T	ENSP00000506841.1:n.*2507G>T
XM_011520331.1:c.4111G>T	XP_011518633.1:p.Gly1371Ter
XM_011520332.1:c.4114G>T	XP_011518634.1:p.Gly1372Ter
XM_011520333.1:c.2611G>T	XP_011518635.1:p.Gly871Ter
XM_017018197.2:c.4180G>T	XP_016873686.1:p.Gly1394Ter
XM_017018199.1:c.4177G>T	XP_016873688.1:p.Gly1393Ter
XM_017018201.2:c.4180G>T	XP_016873690.1:p.Gly1394Ter
XM_017018202.1:c.2677G>T	XP_016873691.1:p.Gly893Ter
XM_017018204.1:c.2068G>T	XP_016873693.1:p.Gly690Ter
XM_024448668.1:c.2479G>T	XP_024304436.1:p.Gly827Ter
XR_001747945.2:n.4252G>T
XR_001747946.2:n.4183G>T
XR_002957189.1:n.4848G>T
XR_930890.1:n.4177G>T