Canonical Allele Identifier: CA3189325362
Community Standard Title: NM_000352.6(ABCC8):c.4111G= (p.Gly1371=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4111G= MANE Select NP_000343.2:p.Gly1371=
ENST00000389817.8:c.4111G= MANE Select ENSP00000374467.4:p.Gly1371=
NM_000352.4:c.4111G= NP_000343.2:p.Gly1371=
NM_001287174.1:c.4114G= NP_001274103.1:p.Gly1372=
NM_001287174.2:c.4114G= NP_001274103.1:p.Gly1372=
NM_001287174.3:c.4114G= NP_001274103.1:p.Gly1372=
NM_001351295.1:c.4177G= NP_001338224.1:p.Gly1393=
NM_001351295.2:c.4177G= NP_001338224.1:p.Gly1393=
NM_001351296.1:c.4111G= NP_001338225.1:p.Gly1371=
NM_001351296.2:c.4111G= NP_001338225.1:p.Gly1371=
NM_001351297.1:c.4108G= NP_001338226.1:p.Gly1370=
NM_001351297.2:c.4108G= NP_001338226.1:p.Gly1370=
NR_147094.1:n.4406G=
NR_147094.2:n.4406G=
ENST00000302539.8:c.4114G= ENSP00000303960.4:p.Gly1372=
ENST00000302539.9:c.4114G= ENSP00000303960.4:p.Gly1372=
ENST00000389817.7:c.4111G= ENSP00000374467.3:p.Gly1371=
ENST00000524561.2:n.3712G=
ENST00000527905.5:c.*1133G= ENSP00000431653.1:n.*1133G=
ENST00000528374.1:c.593G=
ENST00000528374.2:c.702G=
ENST00000529967.6:n.2450G=
ENST00000532220.1:n.585G=
ENST00000532220.2:n.2359G=
ENST00000642271.1:c.4108G= ENSP00000493749.1:p.Gly1370=
ENST00000642579.1:c.2165G=
ENST00000642611.1:n.4211G=
ENST00000642611.2:n.4326G=
ENST00000642902.1:c.3893G=
ENST00000643260.1:c.4111G= ENSP00000494450.1:p.Gly1371=
ENST00000643562.1:c.*2233G= ENSP00000496124.1:n.*2233G=
ENST00000643925.1:c.2751G=
ENST00000644057.1:n.188G=
ENST00000644057.2:n.554G=
ENST00000644484.1:c.*2512G= ENSP00000493558.1:n.*2512G=
ENST00000644675.1:c.*2283G= ENSP00000494567.1:n.*2283G=
ENST00000644757.1:c.*2542G= ENSP00000495085.1:n.*2542G=
ENST00000644772.1:c.4177G= ENSP00000494321.1:p.Gly1393=
ENST00000645004.1:n.1766G=
ENST00000645004.2:n.1610G=
ENST00000645076.1:c.3310G=
ENST00000645417.1:c.1299G=
ENST00000645744.1:c.*2891G= ENSP00000494564.1:n.*2891G=
ENST00000645760.1:c.4532G=
ENST00000645884.1:c.*1394G= ENSP00000495516.1:n.*1394G=
ENST00000646003.1:c.*2213G= ENSP00000495259.1:n.*2213G=
ENST00000646207.1:c.*2948G= ENSP00000495025.1:n.*2948G=
ENST00000646276.1:c.*2530G= ENSP00000496070.1:n.*2530G=
ENST00000646592.1:c.3417G=
ENST00000646902.1:c.4078G= ENSP00000494101.1:p.Gly1360=
ENST00000646993.1:c.*2653G= ENSP00000493720.1:n.*2653G=
ENST00000647013.1:c.4117G= ENSP00000496741.1:n.4117G=
ENST00000647015.1:c.3862G= ENSP00000495389.1:p.Gly1288=
ENST00000647086.1:c.*3697G= ENSP00000493677.1:n.*3697G=
ENST00000647158.1:c.*2398G= ENSP00000495744.1:n.*2398G=
ENST00000682051.1:n.4273G=
ENST00000682110.1:n.4326G=
ENST00000682140.1:c.3985+269G= ENSP00000507829.1:n.3985+269G=
ENST00000682185.1:n.5416G=
ENST00000682204.1:c.*2249G= ENSP00000507094.1:n.*2249G=
ENST00000682215.1:n.4693G=
ENST00000682288.1:c.*2542G= ENSP00000507506.1:n.*2542G=
ENST00000682442.1:n.4546G=
ENST00000682528.1:n.4403G=
ENST00000682673.1:n.4270G=
ENST00000682805.1:n.4693G=
ENST00000682965.1:c.*533G= ENSP00000508229.1:n.*533G=
ENST00000683093.1:n.4425G=
ENST00000683136.1:c.3994G= ENSP00000507768.1:p.Gly1332=
ENST00000683153.1:n.4368G=
ENST00000683365.1:n.4428G=
ENST00000683377.1:n.4326G=
ENST00000683456.1:c.*1248G= ENSP00000508318.1:n.*1248G=
ENST00000683522.1:n.4326G=
ENST00000683562.1:c.*2280G= ENSP00000508265.1:n.*2280G=
ENST00000683693.1:n.4773G=
ENST00000683725.1:c.4111G= ENSP00000507496.1:p.Gly1371=
ENST00000684010.1:n.4321G=
ENST00000684157.1:n.4326G=
ENST00000684253.1:n.4229G=
ENST00000684288.1:c.*2283G= ENSP00000507143.1:n.*2283G=
ENST00000684313.1:n.3758G=
ENST00000684332.1:n.4399G=
ENST00000684371.1:n.4432G=
ENST00000684404.1:n.4369G=
ENST00000684442.1:n.4550G=
ENST00000684555.1:c.*2323G= ENSP00000507705.1:n.*2323G=
ENST00000684571.1:c.3952G= ENSP00000506935.1:p.Gly1318=
ENST00000684593.1:c.*3816G= ENSP00000507005.1:n.*3816G=
ENST00000684711.1:c.*2507G= ENSP00000506841.1:n.*2507G=
XM_011520331.1:c.4111G= XP_011518633.1:p.Gly1371=
XM_011520332.1:c.4114G= XP_011518634.1:p.Gly1372=
XM_011520333.1:c.2611G= XP_011518635.1:p.Gly871=
XM_017018197.2:c.4180G= XP_016873686.1:p.Gly1394=
XM_017018199.1:c.4177G= XP_016873688.1:p.Gly1393=
XM_017018201.2:c.4180G= XP_016873690.1:p.Gly1394=
XM_017018202.1:c.2677G= XP_016873691.1:p.Gly893=
XM_017018204.1:c.2068G= XP_016873693.1:p.Gly690=
XM_024448668.1:c.2479G= XP_024304436.1:p.Gly827=
XR_001747945.2:n.4252G=
XR_001747946.2:n.4183G=
XR_002957189.1:n.4848G=
XR_930890.1:n.4177G=