Canonical Allele Identifier: CA5902988
Community Standard Title: NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17407386T>C , CM000673.2:g.17407386T>C GRCh38
NC_000011.9:g.17428933T>C , CM000673.1:g.17428933T>C GRCh37
NC_000011.8:g.17385509T>C NCBI36
NG_008867.1:g.74517A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2888A>G MANE Select NP_000343.2:p.Asp963Gly
ENST00000389817.8:c.2888A>G MANE Select ENSP00000374467.4:p.Asp963Gly
NM_000352.4:c.2888A>G NP_000343.2:p.Asp963Gly
NM_001287174.1:c.2891A>G NP_001274103.1:p.Asp964Gly
NM_001287174.2:c.2891A>G NP_001274103.1:p.Asp964Gly
NM_001287174.3:c.2891A>G NP_001274103.1:p.Asp964Gly
NM_001351295.1:c.2954A>G NP_001338224.1:p.Asp985Gly
NM_001351295.2:c.2954A>G NP_001338224.1:p.Asp985Gly
NM_001351296.1:c.2888A>G NP_001338225.1:p.Asp963Gly
NM_001351296.2:c.2888A>G NP_001338225.1:p.Asp963Gly
NM_001351297.1:c.2885A>G NP_001338226.1:p.Asp962Gly
NM_001351297.2:c.2885A>G NP_001338226.1:p.Asp962Gly
NR_147094.1:n.2957A>G
NR_147094.2:n.2957A>G
ENST00000302539.8:c.2891A>G ENSP00000303960.4:p.Asp964Gly
ENST00000302539.9:c.2891A>G ENSP00000303960.4:p.Asp964Gly
ENST00000389817.7:c.2888A>G ENSP00000374467.3:p.Asp963Gly
ENST00000524561.2:n.2490-257A>G
ENST00000526921.5:n.572A>G
ENST00000527905.5:c.2791-257A>G ENSP00000431653.1:n.2791-257A>G
ENST00000529967.5:n.557A>G
ENST00000529967.6:n.1147A>G
ENST00000532220.2:n.620A>G
ENST00000642271.1:c.2885A>G ENSP00000493749.1:p.Asp962Gly
ENST00000642579.1:c.972A>G
ENST00000642611.1:n.2842A>G
ENST00000642611.2:n.2957A>G
ENST00000642902.1:c.2723A>G
ENST00000643260.1:c.2888A>G ENSP00000494450.1:p.Asp963Gly
ENST00000643562.1:c.*864A>G ENSP00000496124.1:n.*864A>G
ENST00000643925.1:c.932A>G
ENST00000644447.1:c.1244A>G ENSP00000496282.1:p.Asp415Gly
ENST00000644484.1:c.*1097A>G ENSP00000493558.1:n.*1097A>G
ENST00000644542.1:c.*2593A>G ENSP00000495532.1:n.*2593A>G
ENST00000644675.1:c.*1060A>G ENSP00000494567.1:n.*1060A>G
ENST00000644757.1:c.*1126-177A>G ENSP00000495085.1:n.*1126-177A>G
ENST00000644772.1:c.2954A>G ENSP00000494321.1:p.Asp985Gly
ENST00000645004.1:n.27A>G
ENST00000645004.2:n.387A>G
ENST00000645076.1:c.2140A>G
ENST00000645417.1:c.54A>G
ENST00000645744.1:c.*1185-257A>G ENSP00000494564.1:n.*1185-257A>G
ENST00000645760.1:c.3163A>G
ENST00000645884.1:c.2888A>G ENSP00000495516.1:p.Asp963Gly
ENST00000646003.1:c.*877-257A>G ENSP00000495259.1:n.*877-257A>G
ENST00000646207.1:c.*1355A>G ENSP00000495025.1:n.*1355A>G
ENST00000646276.1:c.*1161A>G ENSP00000496070.1:n.*1161A>G
ENST00000646592.1:c.2114A>G
ENST00000646902.1:c.2885A>G ENSP00000494101.1:p.Asp962Gly
ENST00000646993.1:c.*1284A>G ENSP00000493720.1:n.*1284A>G
ENST00000647013.1:c.2894A>G ENSP00000496741.1:n.2894A>G
ENST00000647015.1:c.2639A>G ENSP00000495389.1:p.Asp880Gly
ENST00000647086.1:c.*2618A>G ENSP00000493677.1:n.*2618A>G
ENST00000647158.1:c.*1029A>G ENSP00000495744.1:n.*1029A>G
ENST00000682051.1:n.2904A>G
ENST00000682110.1:n.2957A>G
ENST00000682140.1:c.2885A>G ENSP00000507829.1:p.Asp962Gly
ENST00000682185.1:n.4193A>G
ENST00000682204.1:c.*1026A>G ENSP00000507094.1:n.*1026A>G
ENST00000682215.1:n.2954A>G
ENST00000682288.1:c.*1319A>G ENSP00000507506.1:n.*1319A>G
ENST00000682442.1:n.3078A>G
ENST00000682528.1:n.2954A>G
ENST00000682673.1:n.2901A>G
ENST00000682805.1:n.2954A>G
ENST00000682965.1:c.2885A>G ENSP00000508229.1:p.Asp962Gly
ENST00000683093.1:n.3056A>G
ENST00000683136.1:c.2885A>G ENSP00000507768.1:p.Asp962Gly
ENST00000683153.1:n.3113A>G
ENST00000683365.1:n.3059A>G
ENST00000683377.1:n.2957A>G
ENST00000683456.1:c.2888A>G ENSP00000508318.1:p.Asp963Gly
ENST00000683522.1:n.2957A>G
ENST00000683562.1:c.*1057A>G ENSP00000508265.1:n.*1057A>G
ENST00000683693.1:n.2954A>G
ENST00000683725.1:c.2888A>G ENSP00000507496.1:p.Asp963Gly
ENST00000684010.1:n.2872A>G
ENST00000684157.1:n.2957A>G
ENST00000684253.1:n.2860A>G
ENST00000684288.1:c.*1060A>G ENSP00000507143.1:n.*1060A>G
ENST00000684313.1:n.2389A>G
ENST00000684332.1:n.3030A>G
ENST00000684371.1:n.3063A>G
ENST00000684404.1:n.2954A>G
ENST00000684442.1:n.2957A>G
ENST00000684555.1:c.*1100A>G ENSP00000507705.1:n.*1100A>G
ENST00000684571.1:c.2729A>G ENSP00000506935.1:p.Asp910Gly
ENST00000684593.1:c.*2593A>G ENSP00000507005.1:n.*2593A>G
ENST00000684711.1:c.*1284A>G ENSP00000506841.1:n.*1284A>G
XM_011520331.1:c.2888A>G XP_011518633.1:p.Asp963Gly
XM_011520332.1:c.2891A>G XP_011518634.1:p.Asp964Gly
XM_011520333.1:c.1388A>G XP_011518635.1:p.Asp463Gly
XM_011520334.1:c.2891A>G XP_011518636.1:p.Asp964Gly
XM_017018197.2:c.2957A>G XP_016873686.1:p.Asp986Gly
XM_017018199.1:c.2954A>G XP_016873688.1:p.Asp985Gly
XM_017018201.2:c.2957A>G XP_016873690.1:p.Asp986Gly
XM_017018202.1:c.1454A>G XP_016873691.1:p.Asp485Gly
XM_017018204.1:c.845A>G XP_016873693.1:p.Asp282Gly
XM_024448668.1:c.1256A>G XP_024304436.1:p.Asp419Gly
XR_001747945.2:n.3029A>G
XR_001747946.2:n.2960A>G
XR_002957189.1:n.3029A>G
XR_930890.1:n.2954A>G
XR_930891.1:n.2954A>G
XR_930892.1:n.2887-257A>G
XR_930893.1:n.2884-257A>G