Canonical Allele Identifier: CA379811263
Community Standard Title: NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17416949C>A , CM000673.2:g.17416949C>A GRCh38
NC_000011.9:g.17438496C>A , CM000673.1:g.17438496C>A GRCh37
NC_000011.8:g.17395072C>A NCBI36
NG_008867.1:g.64954G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2236G>T MANE Select NP_000343.2:p.Glu746Ter
ENST00000389817.8:c.2236G>T MANE Select ENSP00000374467.4:p.Glu746Ter
NM_000352.4:c.2236G>T NP_000343.2:p.Glu746Ter
NM_001287174.1:c.2239G>T NP_001274103.1:p.Glu747Ter
NM_001287174.2:c.2239G>T NP_001274103.1:p.Glu747Ter
NM_001287174.3:c.2239G>T NP_001274103.1:p.Glu747Ter
NM_001351295.1:c.2302G>T NP_001338224.1:p.Glu768Ter
NM_001351295.2:c.2302G>T NP_001338224.1:p.Glu768Ter
NM_001351296.1:c.2236G>T NP_001338225.1:p.Glu746Ter
NM_001351296.2:c.2236G>T NP_001338225.1:p.Glu746Ter
NM_001351297.1:c.2233G>T NP_001338226.1:p.Glu745Ter
NM_001351297.2:c.2233G>T NP_001338226.1:p.Glu745Ter
NR_147094.1:n.2305G>T
NR_147094.2:n.2305G>T
ENST00000302539.8:c.2239G>T ENSP00000303960.4:p.Glu747Ter
ENST00000302539.9:c.2239G>T ENSP00000303960.4:p.Glu747Ter
ENST00000389817.7:c.2236G>T ENSP00000374467.3:p.Glu746Ter
ENST00000524561.2:n.1905G>T
ENST00000527905.5:c.2206G>T ENSP00000431653.1:p.Glu736Ter
ENST00000529967.6:n.495G>T
ENST00000531911.1:n.350G>T
ENST00000642271.1:c.2233G>T ENSP00000493749.1:p.Glu745Ter
ENST00000642579.1:c.320G>T
ENST00000642611.1:n.2190G>T
ENST00000642611.2:n.2305G>T
ENST00000642902.1:c.2071G>T
ENST00000643260.1:c.2236G>T ENSP00000494450.1:p.Glu746Ter
ENST00000643562.1:c.*212G>T ENSP00000496124.1:n.*212G>T
ENST00000643925.1:c.176G>T
ENST00000644447.1:c.592G>T ENSP00000496282.1:p.Glu198Ter
ENST00000644472.1:c.*597G>T ENSP00000495378.1:n.*597G>T
ENST00000644484.1:c.*445G>T ENSP00000493558.1:n.*445G>T
ENST00000644542.1:c.*1941G>T ENSP00000495532.1:n.*1941G>T
ENST00000644675.1:c.*408G>T ENSP00000494567.1:n.*408G>T
ENST00000644757.1:c.*541G>T ENSP00000495085.1:n.*541G>T
ENST00000644772.1:c.2302G>T ENSP00000494321.1:p.Glu768Ter
ENST00000645076.1:c.1488G>T
ENST00000645744.1:c.*600G>T ENSP00000494564.1:n.*600G>T
ENST00000645760.1:c.2511G>T
ENST00000645884.1:c.2236G>T ENSP00000495516.1:p.Glu746Ter
ENST00000646003.1:c.*377G>T ENSP00000495259.1:n.*377G>T
ENST00000646207.1:c.*600G>T ENSP00000495025.1:n.*600G>T
ENST00000646276.1:c.*509G>T ENSP00000496070.1:n.*509G>T
ENST00000646592.1:c.1462G>T
ENST00000646902.1:c.2233G>T ENSP00000494101.1:p.Glu745Ter
ENST00000646993.1:c.*632G>T ENSP00000493720.1:n.*632G>T
ENST00000647013.1:c.2242G>T ENSP00000496741.1:n.2242G>T
ENST00000647015.1:c.1987G>T ENSP00000495389.1:p.Glu663Ter
ENST00000647086.1:c.*1966G>T ENSP00000493677.1:n.*1966G>T
ENST00000647158.1:c.*377G>T ENSP00000495744.1:n.*377G>T
ENST00000682051.1:n.2252G>T
ENST00000682110.1:n.2305G>T
ENST00000682140.1:c.2233G>T ENSP00000507829.1:p.Glu745Ter
ENST00000682185.1:n.3541G>T
ENST00000682204.1:c.*374G>T ENSP00000507094.1:n.*374G>T
ENST00000682215.1:n.2302G>T
ENST00000682288.1:c.*667G>T ENSP00000507506.1:n.*667G>T
ENST00000682442.1:n.2426G>T
ENST00000682528.1:n.2302G>T
ENST00000682673.1:n.2249G>T
ENST00000682805.1:n.2302G>T
ENST00000682965.1:c.2233G>T ENSP00000508229.1:p.Glu745Ter
ENST00000683093.1:n.2404G>T
ENST00000683136.1:c.2233G>T ENSP00000507768.1:p.Glu745Ter
ENST00000683153.1:n.2461G>T
ENST00000683365.1:n.2407G>T
ENST00000683377.1:n.2305G>T
ENST00000683456.1:c.2236G>T ENSP00000508318.1:p.Glu746Ter
ENST00000683522.1:n.2305G>T
ENST00000683562.1:c.*405G>T ENSP00000508265.1:n.*405G>T
ENST00000683693.1:n.2302G>T
ENST00000683725.1:c.2236G>T ENSP00000507496.1:p.Glu746Ter
ENST00000684010.1:n.2305G>T
ENST00000684157.1:n.2305G>T
ENST00000684253.1:n.2208G>T
ENST00000684288.1:c.*408G>T ENSP00000507143.1:n.*408G>T
ENST00000684313.1:n.1737G>T
ENST00000684332.1:n.2378G>T
ENST00000684371.1:n.2411G>T
ENST00000684404.1:n.2302G>T
ENST00000684442.1:n.2305G>T
ENST00000684555.1:c.*448G>T ENSP00000507705.1:n.*448G>T
ENST00000684571.1:c.2077G>T ENSP00000506935.1:p.Glu693Ter
ENST00000684593.1:c.*1941G>T ENSP00000507005.1:n.*1941G>T
ENST00000684711.1:c.*632G>T ENSP00000506841.1:n.*632G>T
XM_011520331.1:c.2236G>T XP_011518633.1:p.Glu746Ter
XM_011520332.1:c.2239G>T XP_011518634.1:p.Glu747Ter
XM_011520333.1:c.736G>T XP_011518635.1:p.Glu246Ter
XM_011520334.1:c.2239G>T XP_011518636.1:p.Glu747Ter
XM_017018197.2:c.2305G>T XP_016873686.1:p.Glu769Ter
XM_017018199.1:c.2302G>T XP_016873688.1:p.Glu768Ter
XM_017018201.2:c.2305G>T XP_016873690.1:p.Glu769Ter
XM_017018202.1:c.802G>T XP_016873691.1:p.Glu268Ter
XM_017018204.1:c.193G>T XP_016873693.1:p.Glu65Ter
XM_024448668.1:c.604G>T XP_024304436.1:p.Glu202Ter
XR_001747945.2:n.2377G>T
XR_001747946.2:n.2308G>T
XR_002957189.1:n.2377G>T
XR_930890.1:n.2302G>T
XR_930891.1:n.2302G>T
XR_930892.1:n.2302G>T
XR_930893.1:n.2299G>T