Canonical Allele Identifier: CA1955122989
Community Standard Title: NM_000352.6(ABCC8):c.4353G= (p.Trp1451=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395230C= , CM000673.2:g.17395230C= GRCh38
NC_000011.9:g.17416777C= , CM000673.1:g.17416777C= GRCh37
NC_000011.8:g.17373353C= NCBI36
NG_008867.1:g.86673G=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4353G= MANE Select NP_000343.2:p.Trp1451=
ENST00000389817.8:c.4353G= MANE Select ENSP00000374467.4:p.Trp1451=
NM_000352.4:c.4353G= NP_000343.2:p.Trp1451=
NM_001287174.1:c.4356G= NP_001274103.1:p.Trp1452=
NM_001287174.2:c.4356G= NP_001274103.1:p.Trp1452=
NM_001287174.3:c.4356G= NP_001274103.1:p.Trp1452=
NM_001351295.1:c.4419G= NP_001338224.1:p.Trp1473=
NM_001351295.2:c.4419G= NP_001338224.1:p.Trp1473=
NM_001351296.1:c.4353G= NP_001338225.1:p.Trp1451=
NM_001351296.2:c.4353G= NP_001338225.1:p.Trp1451=
NM_001351297.1:c.4350G= NP_001338226.1:p.Trp1450=
NM_001351297.2:c.4350G= NP_001338226.1:p.Trp1450=
NR_147094.1:n.4648G=
NR_147094.2:n.4648G=
ENST00000302539.8:c.4356G= ENSP00000303960.4:p.Trp1452=
ENST00000302539.9:c.4356G= ENSP00000303960.4:p.Trp1452=
ENST00000389817.7:c.4353G= ENSP00000374467.3:p.Trp1451=
ENST00000524561.2:n.3954G=
ENST00000525022.1:n.306+380G=
ENST00000526037.5:n.171+380G=
ENST00000526037.6:n.288G=
ENST00000526168.5:c.141G=
ENST00000528374.2:c.944G=
ENST00000529967.6:n.2692G=
ENST00000531642.5:c.384G=
ENST00000532220.2:n.3586G=
ENST00000642271.1:c.4350G= ENSP00000493749.1:p.Trp1450=
ENST00000642579.1:c.2407G=
ENST00000642611.1:n.5571G=
ENST00000642611.2:n.5686G=
ENST00000642902.1:c.4135G=
ENST00000643260.1:c.4353G= ENSP00000494450.1:p.Trp1451=
ENST00000643562.1:c.*2475G= ENSP00000496124.1:n.*2475G=
ENST00000643925.1:c.2993G=
ENST00000644057.1:n.430G=
ENST00000644057.2:n.929G=
ENST00000644484.1:c.*3739G= ENSP00000493558.1:n.*3739G=
ENST00000644675.1:c.*2525G= ENSP00000494567.1:n.*2525G=
ENST00000644757.1:c.*3202+1034G= ENSP00000495085.1:n.*3202+1034G=
ENST00000644772.1:c.4419G= ENSP00000494321.1:p.Trp1473=
ENST00000645004.1:n.2046G=
ENST00000645004.2:n.1852G=
ENST00000645076.1:c.3506+380G=
ENST00000645417.1:c.1541G=
ENST00000645744.1:c.*4038G= ENSP00000494564.1:n.*4038G=
ENST00000645760.1:c.4774G=
ENST00000645884.1:c.*1636G= ENSP00000495516.1:n.*1636G=
ENST00000646003.1:c.*2375G= ENSP00000495259.1:n.*2375G=
ENST00000646207.1:c.*3190G= ENSP00000495025.1:n.*3190G=
ENST00000646276.1:c.*3757G= ENSP00000496070.1:n.*3757G=
ENST00000646592.1:c.3659G=
ENST00000646902.1:c.4320G= ENSP00000494101.1:p.Trp1440=
ENST00000646993.1:c.*2849+380G= ENSP00000493720.1:n.*2849+380G=
ENST00000647013.1:c.4359G= ENSP00000496741.1:n.4359G=
ENST00000647015.1:c.4104G= ENSP00000495389.1:p.Trp1368=
ENST00000647086.1:c.*3939G= ENSP00000493677.1:n.*3939G=
ENST00000647158.1:c.*2640G= ENSP00000495744.1:n.*2640G=
ENST00000682051.1:n.4515G=
ENST00000682110.1:n.4568G=
ENST00000682140.1:c.*139G= ENSP00000507829.1:n.*139G=
ENST00000682185.1:n.5658G=
ENST00000682204.1:c.*2491G= ENSP00000507094.1:n.*2491G=
ENST00000682215.1:n.4935G=
ENST00000682288.1:c.*2784G= ENSP00000507506.1:n.*2784G=
ENST00000682442.1:n.4788G=
ENST00000682528.1:n.4645G=
ENST00000682673.1:n.4512G=
ENST00000682805.1:n.4973G=
ENST00000682965.1:c.*775G= ENSP00000508229.1:n.*775G=
ENST00000683093.1:n.5606+380G=
ENST00000683136.1:c.4236G= ENSP00000507768.1:p.Trp1412=
ENST00000683153.1:n.4610G=
ENST00000683365.1:n.4670G=
ENST00000683377.1:n.4522+380G=
ENST00000683456.1:c.*1490G= ENSP00000508318.1:n.*1490G=
ENST00000683522.1:n.4568G=
ENST00000683562.1:c.*2476+380G= ENSP00000508265.1:n.*2476+380G=
ENST00000683693.1:n.6087+380G=
ENST00000683725.1:c.4307+380G= ENSP00000507496.1:n.4307+380G=
ENST00000684010.1:n.4563G=
ENST00000684157.1:n.5553G=
ENST00000684253.1:n.4471G=
ENST00000684288.1:c.*2525G= ENSP00000507143.1:n.*2525G=
ENST00000684313.1:n.4000G=
ENST00000684332.1:n.4641G=
ENST00000684371.1:n.4674G=
ENST00000684404.1:n.5596G=
ENST00000684442.1:n.4792G=
ENST00000684555.1:c.*2565G= ENSP00000507705.1:n.*2565G=
ENST00000684571.1:c.4194G= ENSP00000506935.1:p.Trp1398=
ENST00000684593.1:c.*4058G= ENSP00000507005.1:n.*4058G=
ENST00000684711.1:c.*2749G= ENSP00000506841.1:n.*2749G=
XM_011520331.1:c.4353G= XP_011518633.1:p.Trp1451=
XM_011520332.1:c.4310+380G= XP_011518634.1:n.4310+380G=
XM_011520333.1:c.2853G= XP_011518635.1:p.Trp951=
XM_017018197.2:c.4422G= XP_016873686.1:p.Trp1474=
XM_017018199.1:c.4419G= XP_016873688.1:p.Trp1473=
XM_017018201.2:c.4376+380G= XP_016873690.1:n.4376+380G=
XM_017018202.1:c.2919G= XP_016873691.1:p.Trp973=
XM_017018204.1:c.2310G= XP_016873693.1:p.Trp770=
XM_024448668.1:c.2721G= XP_024304436.1:p.Trp907=
XR_001747945.2:n.4448+380G=
XR_001747946.2:n.4379+380G=
XR_002957189.1:n.6162+380G=
XR_930890.1:n.4373+380G=