Canonical Allele Identifier: CA3189325423
Community Standard Title: NM_000352.6(ABCC8):c.4011C= (p.Asn1337=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397024G= , CM000673.2:g.17397024G= GRCh38
NC_000011.9:g.17418571G= , CM000673.1:g.17418571G= GRCh37
NC_000011.8:g.17375147G= NCBI36
NG_008867.1:g.84879C=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4011C= MANE Select NP_000343.2:p.Asn1337=
ENST00000389817.8:c.4011C= MANE Select ENSP00000374467.4:p.Asn1337=
NM_000352.4:c.4011C= NP_000343.2:p.Asn1337=
NM_001287174.1:c.4014C= NP_001274103.1:p.Asn1338=
NM_001287174.2:c.4014C= NP_001274103.1:p.Asn1338=
NM_001287174.3:c.4014C= NP_001274103.1:p.Asn1338=
NM_001351295.1:c.4077C= NP_001338224.1:p.Asn1359=
NM_001351295.2:c.4077C= NP_001338224.1:p.Asn1359=
NM_001351296.1:c.4011C= NP_001338225.1:p.Asn1337=
NM_001351296.2:c.4011C= NP_001338225.1:p.Asn1337=
NM_001351297.1:c.4008C= NP_001338226.1:p.Asn1336=
NM_001351297.2:c.4008C= NP_001338226.1:p.Asn1336=
NR_147094.1:n.4306C=
NR_147094.2:n.4306C=
ENST00000302539.8:c.4014C= ENSP00000303960.4:p.Asn1338=
ENST00000302539.9:c.4014C= ENSP00000303960.4:p.Asn1338=
ENST00000389817.7:c.4011C= ENSP00000374467.3:p.Asn1337=
ENST00000524561.2:n.3612C=
ENST00000527905.5:c.*1033C= ENSP00000431653.1:n.*1033C=
ENST00000528374.1:c.493C=
ENST00000528374.2:c.602C=
ENST00000529967.6:n.2350C=
ENST00000531137.1:n.576C=
ENST00000531891.1:c.357-8C=
ENST00000532220.1:n.485C=
ENST00000532220.2:n.2259C=
ENST00000642271.1:c.4008C= ENSP00000493749.1:p.Asn1336=
ENST00000642579.1:c.2073-8C=
ENST00000642611.1:n.4111C=
ENST00000642611.2:n.4226C=
ENST00000642902.1:c.3793C=
ENST00000643260.1:c.4011C= ENSP00000494450.1:p.Asn1337=
ENST00000643562.1:c.*2133C= ENSP00000496124.1:n.*2133C=
ENST00000643925.1:c.2651C=
ENST00000644057.1:n.88C=
ENST00000644057.2:n.454C=
ENST00000644484.1:c.*2412C= ENSP00000493558.1:n.*2412C=
ENST00000644675.1:c.*2183C= ENSP00000494567.1:n.*2183C=
ENST00000644757.1:c.*2442C= ENSP00000495085.1:n.*2442C=
ENST00000644772.1:c.4077C= ENSP00000494321.1:p.Asn1359=
ENST00000645004.1:n.1666C=
ENST00000645004.2:n.1510C=
ENST00000645076.1:c.3210C=
ENST00000645417.1:c.1199C=
ENST00000645744.1:c.*2791C= ENSP00000494564.1:n.*2791C=
ENST00000645760.1:c.4432C=
ENST00000645884.1:c.*1294C= ENSP00000495516.1:n.*1294C=
ENST00000646003.1:c.*2113C= ENSP00000495259.1:n.*2113C=
ENST00000646207.1:c.*2848C= ENSP00000495025.1:n.*2848C=
ENST00000646276.1:c.*2430C= ENSP00000496070.1:n.*2430C=
ENST00000646592.1:c.3317C=
ENST00000646902.1:c.3986-8C= ENSP00000494101.1:n.3986-8C=
ENST00000646993.1:c.*2553C= ENSP00000493720.1:n.*2553C=
ENST00000647013.1:c.4017C= ENSP00000496741.1:n.4017C=
ENST00000647015.1:c.3762C= ENSP00000495389.1:p.Asn1254=
ENST00000647086.1:c.*3605-8C= ENSP00000493677.1:n.*3605-8C=
ENST00000647158.1:c.*2298C= ENSP00000495744.1:n.*2298C=
ENST00000682051.1:n.4173C=
ENST00000682110.1:n.4226C=
ENST00000682140.1:c.3985+169C= ENSP00000507829.1:n.3985+169C=
ENST00000682185.1:n.5316C=
ENST00000682204.1:c.*2149C= ENSP00000507094.1:n.*2149C=
ENST00000682215.1:n.4593C=
ENST00000682288.1:c.*2442C= ENSP00000507506.1:n.*2442C=
ENST00000682442.1:n.4446C=
ENST00000682528.1:n.4303C=
ENST00000682673.1:n.4170C=
ENST00000682805.1:n.4593C=
ENST00000682965.1:c.*433C= ENSP00000508229.1:n.*433C=
ENST00000683093.1:n.4325C=
ENST00000683136.1:c.3894C= ENSP00000507768.1:p.Asn1298=
ENST00000683153.1:n.4268C=
ENST00000683365.1:n.4328C=
ENST00000683377.1:n.4226C=
ENST00000683456.1:c.*1148C= ENSP00000508318.1:n.*1148C=
ENST00000683522.1:n.4226C=
ENST00000683562.1:c.*2180C= ENSP00000508265.1:n.*2180C=
ENST00000683693.1:n.4673C=
ENST00000683725.1:c.4011C= ENSP00000507496.1:p.Asn1337=
ENST00000684010.1:n.4221C=
ENST00000684157.1:n.4226C=
ENST00000684253.1:n.4129C=
ENST00000684288.1:c.*2183C= ENSP00000507143.1:n.*2183C=
ENST00000684313.1:n.3658C=
ENST00000684332.1:n.4299C=
ENST00000684371.1:n.4332C=
ENST00000684404.1:n.4269C=
ENST00000684442.1:n.4450C=
ENST00000684555.1:c.*2223C= ENSP00000507705.1:n.*2223C=
ENST00000684571.1:c.3852C= ENSP00000506935.1:p.Asn1284=
ENST00000684593.1:c.*3716C= ENSP00000507005.1:n.*3716C=
ENST00000684711.1:c.*2407C= ENSP00000506841.1:n.*2407C=
XM_011520331.1:c.4011C= XP_011518633.1:p.Asn1337=
XM_011520332.1:c.4014C= XP_011518634.1:p.Asn1338=
XM_011520333.1:c.2511C= XP_011518635.1:p.Asn837=
XM_017018197.2:c.4080C= XP_016873686.1:p.Asn1360=
XM_017018199.1:c.4077C= XP_016873688.1:p.Asn1359=
XM_017018201.2:c.4080C= XP_016873690.1:p.Asn1360=
XM_017018202.1:c.2577C= XP_016873691.1:p.Asn859=
XM_017018204.1:c.1968C= XP_016873693.1:p.Asn656=
XM_024448668.1:c.2379C= XP_024304436.1:p.Asn793=
XR_001747945.2:n.4152C=
XR_001747946.2:n.4083C=
XR_002957189.1:n.4748C=
XR_930890.1:n.4077C=