Canonical Allele Identifier: CA3189325416
Community Standard Title: NM_000352.6(ABCC8):c.4014G= (p.Trp1338=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397021C= , CM000673.2:g.17397021C= GRCh38
NC_000011.9:g.17418568C= , CM000673.1:g.17418568C= GRCh37
NC_000011.8:g.17375144C= NCBI36
NG_008867.1:g.84882G=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4014G= MANE Select NP_000343.2:p.Trp1338=
ENST00000389817.8:c.4014G= MANE Select ENSP00000374467.4:p.Trp1338=
NM_000352.4:c.4014G= NP_000343.2:p.Trp1338=
NM_001287174.1:c.4017G= NP_001274103.1:p.Trp1339=
NM_001287174.2:c.4017G= NP_001274103.1:p.Trp1339=
NM_001287174.3:c.4017G= NP_001274103.1:p.Trp1339=
NM_001351295.1:c.4080G= NP_001338224.1:p.Trp1360=
NM_001351295.2:c.4080G= NP_001338224.1:p.Trp1360=
NM_001351296.1:c.4014G= NP_001338225.1:p.Trp1338=
NM_001351296.2:c.4014G= NP_001338225.1:p.Trp1338=
NM_001351297.1:c.4011G= NP_001338226.1:p.Trp1337=
NM_001351297.2:c.4011G= NP_001338226.1:p.Trp1337=
NR_147094.1:n.4309G=
NR_147094.2:n.4309G=
ENST00000302539.8:c.4017G= ENSP00000303960.4:p.Trp1339=
ENST00000302539.9:c.4017G= ENSP00000303960.4:p.Trp1339=
ENST00000389817.7:c.4014G= ENSP00000374467.3:p.Trp1338=
ENST00000524561.2:n.3615G=
ENST00000527905.5:c.*1036G= ENSP00000431653.1:n.*1036G=
ENST00000528374.1:c.496G=
ENST00000528374.2:c.605G=
ENST00000529967.6:n.2353G=
ENST00000531137.1:n.579G=
ENST00000531891.1:c.357-5G=
ENST00000532220.1:n.488G=
ENST00000532220.2:n.2262G=
ENST00000642271.1:c.4011G= ENSP00000493749.1:p.Trp1337=
ENST00000642579.1:c.2073-5G=
ENST00000642611.1:n.4114G=
ENST00000642611.2:n.4229G=
ENST00000642902.1:c.3796G=
ENST00000643260.1:c.4014G= ENSP00000494450.1:p.Trp1338=
ENST00000643562.1:c.*2136G= ENSP00000496124.1:n.*2136G=
ENST00000643925.1:c.2654G=
ENST00000644057.1:n.91G=
ENST00000644057.2:n.457G=
ENST00000644484.1:c.*2415G= ENSP00000493558.1:n.*2415G=
ENST00000644675.1:c.*2186G= ENSP00000494567.1:n.*2186G=
ENST00000644757.1:c.*2445G= ENSP00000495085.1:n.*2445G=
ENST00000644772.1:c.4080G= ENSP00000494321.1:p.Trp1360=
ENST00000645004.1:n.1669G=
ENST00000645004.2:n.1513G=
ENST00000645076.1:c.3213G=
ENST00000645417.1:c.1202G=
ENST00000645744.1:c.*2794G= ENSP00000494564.1:n.*2794G=
ENST00000645760.1:c.4435G=
ENST00000645884.1:c.*1297G= ENSP00000495516.1:n.*1297G=
ENST00000646003.1:c.*2116G= ENSP00000495259.1:n.*2116G=
ENST00000646207.1:c.*2851G= ENSP00000495025.1:n.*2851G=
ENST00000646276.1:c.*2433G= ENSP00000496070.1:n.*2433G=
ENST00000646592.1:c.3320G=
ENST00000646902.1:c.3986-5G= ENSP00000494101.1:n.3986-5G=
ENST00000646993.1:c.*2556G= ENSP00000493720.1:n.*2556G=
ENST00000647013.1:c.4020G= ENSP00000496741.1:n.4020G=
ENST00000647015.1:c.3765G= ENSP00000495389.1:p.Trp1255=
ENST00000647086.1:c.*3605-5G= ENSP00000493677.1:n.*3605-5G=
ENST00000647158.1:c.*2301G= ENSP00000495744.1:n.*2301G=
ENST00000682051.1:n.4176G=
ENST00000682110.1:n.4229G=
ENST00000682140.1:c.3985+172G= ENSP00000507829.1:n.3985+172G=
ENST00000682185.1:n.5319G=
ENST00000682204.1:c.*2152G= ENSP00000507094.1:n.*2152G=
ENST00000682215.1:n.4596G=
ENST00000682288.1:c.*2445G= ENSP00000507506.1:n.*2445G=
ENST00000682442.1:n.4449G=
ENST00000682528.1:n.4306G=
ENST00000682673.1:n.4173G=
ENST00000682805.1:n.4596G=
ENST00000682965.1:c.*436G= ENSP00000508229.1:n.*436G=
ENST00000683093.1:n.4328G=
ENST00000683136.1:c.3897G= ENSP00000507768.1:p.Trp1299=
ENST00000683153.1:n.4271G=
ENST00000683365.1:n.4331G=
ENST00000683377.1:n.4229G=
ENST00000683456.1:c.*1151G= ENSP00000508318.1:n.*1151G=
ENST00000683522.1:n.4229G=
ENST00000683562.1:c.*2183G= ENSP00000508265.1:n.*2183G=
ENST00000683693.1:n.4676G=
ENST00000683725.1:c.4014G= ENSP00000507496.1:p.Trp1338=
ENST00000684010.1:n.4224G=
ENST00000684157.1:n.4229G=
ENST00000684253.1:n.4132G=
ENST00000684288.1:c.*2186G= ENSP00000507143.1:n.*2186G=
ENST00000684313.1:n.3661G=
ENST00000684332.1:n.4302G=
ENST00000684371.1:n.4335G=
ENST00000684404.1:n.4272G=
ENST00000684442.1:n.4453G=
ENST00000684555.1:c.*2226G= ENSP00000507705.1:n.*2226G=
ENST00000684571.1:c.3855G= ENSP00000506935.1:p.Trp1285=
ENST00000684593.1:c.*3719G= ENSP00000507005.1:n.*3719G=
ENST00000684711.1:c.*2410G= ENSP00000506841.1:n.*2410G=
XM_011520331.1:c.4014G= XP_011518633.1:p.Trp1338=
XM_011520332.1:c.4017G= XP_011518634.1:p.Trp1339=
XM_011520333.1:c.2514G= XP_011518635.1:p.Trp838=
XM_017018197.2:c.4083G= XP_016873686.1:p.Trp1361=
XM_017018199.1:c.4080G= XP_016873688.1:p.Trp1360=
XM_017018201.2:c.4083G= XP_016873690.1:p.Trp1361=
XM_017018202.1:c.2580G= XP_016873691.1:p.Trp860=
XM_017018204.1:c.1971G= XP_016873693.1:p.Trp657=
XM_024448668.1:c.2382G= XP_024304436.1:p.Trp794=
XR_001747945.2:n.4155G=
XR_001747946.2:n.4086G=
XR_002957189.1:n.4751G=
XR_930890.1:n.4080G=