Canonical Allele Identifier: CA5902804
Community Standard Title: NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404622A>T , CM000673.2:g.17404622A>T GRCh38
NC_000011.9:g.17426169A>T , CM000673.1:g.17426169A>T GRCh37
NC_000011.8:g.17382745A>T NCBI36
NG_008867.1:g.77281T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3447T>A MANE Select NP_000343.2:p.Cys1149Ter
ENST00000389817.8:c.3447T>A MANE Select ENSP00000374467.4:p.Cys1149Ter
NM_000352.4:c.3447T>A NP_000343.2:p.Cys1149Ter
NM_001287174.1:c.3450T>A NP_001274103.1:p.Cys1150Ter
NM_001287174.2:c.3450T>A NP_001274103.1:p.Cys1150Ter
NM_001287174.3:c.3450T>A NP_001274103.1:p.Cys1150Ter
NM_001351295.1:c.3513T>A NP_001338224.1:p.Cys1171Ter
NM_001351295.2:c.3513T>A NP_001338224.1:p.Cys1171Ter
NM_001351296.1:c.3447T>A NP_001338225.1:p.Cys1149Ter
NM_001351296.2:c.3447T>A NP_001338225.1:p.Cys1149Ter
NM_001351297.1:c.3444T>A NP_001338226.1:p.Cys1148Ter
NM_001351297.2:c.3444T>A NP_001338226.1:p.Cys1148Ter
NR_147094.1:n.3596T>A
NR_147094.2:n.3596T>A
ENST00000302539.8:c.3450T>A ENSP00000303960.4:p.Cys1150Ter
ENST00000302539.9:c.3450T>A ENSP00000303960.4:p.Cys1150Ter
ENST00000389817.7:c.3447T>A ENSP00000374467.3:p.Cys1149Ter
ENST00000524561.1:n.579T>A
ENST00000524561.2:n.3016T>A
ENST00000527905.5:c.*323T>A ENSP00000431653.1:n.*323T>A
ENST00000528374.2:c.26T>A
ENST00000529967.6:n.1786T>A
ENST00000532220.2:n.1179T>A
ENST00000642271.1:c.3444T>A ENSP00000493749.1:p.Cys1148Ter
ENST00000642579.1:c.1531T>A
ENST00000642611.1:n.3401T>A
ENST00000642611.2:n.3516T>A
ENST00000642902.1:c.3229T>A
ENST00000643260.1:c.3447T>A ENSP00000494450.1:p.Cys1149Ter
ENST00000643562.1:c.*1423T>A ENSP00000496124.1:n.*1423T>A
ENST00000643925.1:c.1571T>A
ENST00000644447.1:c.1803T>A ENSP00000496282.1:p.Cys601Ter
ENST00000644484.1:c.*1702T>A ENSP00000493558.1:n.*1702T>A
ENST00000644675.1:c.*1619T>A ENSP00000494567.1:n.*1619T>A
ENST00000644757.1:c.*1732T>A ENSP00000495085.1:n.*1732T>A
ENST00000644772.1:c.3513T>A ENSP00000494321.1:p.Cys1171Ter
ENST00000645004.1:n.586T>A
ENST00000645004.2:n.946T>A
ENST00000645076.1:c.2646T>A
ENST00000645417.1:c.613T>A
ENST00000645744.1:c.*1711T>A ENSP00000494564.1:n.*1711T>A
ENST00000645760.1:c.3722T>A
ENST00000645884.1:c.*584T>A ENSP00000495516.1:n.*584T>A
ENST00000646003.1:c.*1403T>A ENSP00000495259.1:n.*1403T>A
ENST00000646207.1:c.*1914T>A ENSP00000495025.1:n.*1914T>A
ENST00000646276.1:c.*1720T>A ENSP00000496070.1:n.*1720T>A
ENST00000646592.1:c.2753T>A
ENST00000646902.1:c.3444T>A ENSP00000494101.1:p.Cys1148Ter
ENST00000646993.1:c.*1843T>A ENSP00000493720.1:n.*1843T>A
ENST00000647013.1:c.3453T>A ENSP00000496741.1:n.3453T>A
ENST00000647015.1:c.3198T>A ENSP00000495389.1:p.Cys1066Ter
ENST00000647086.1:c.*3177T>A ENSP00000493677.1:n.*3177T>A
ENST00000647158.1:c.*1588T>A ENSP00000495744.1:n.*1588T>A
ENST00000682051.1:n.3463T>A
ENST00000682110.1:n.3516T>A
ENST00000682140.1:c.3444T>A ENSP00000507829.1:p.Cys1148Ter
ENST00000682185.1:n.4752T>A
ENST00000682204.1:c.*1585T>A ENSP00000507094.1:n.*1585T>A
ENST00000682215.1:n.3513T>A
ENST00000682288.1:c.*1878T>A ENSP00000507506.1:n.*1878T>A
ENST00000682442.1:n.3736T>A
ENST00000682528.1:n.3593T>A
ENST00000682673.1:n.3460T>A
ENST00000682805.1:n.3513T>A
ENST00000682965.1:c.3396+872T>A ENSP00000508229.1:n.3396+872T>A
ENST00000683093.1:n.3615T>A
ENST00000683136.1:c.3444T>A ENSP00000507768.1:p.Cys1148Ter
ENST00000683153.1:n.3672T>A
ENST00000683365.1:n.3618T>A
ENST00000683377.1:n.3516T>A
ENST00000683456.1:c.*584T>A ENSP00000508318.1:n.*584T>A
ENST00000683522.1:n.3516T>A
ENST00000683562.1:c.*1616T>A ENSP00000508265.1:n.*1616T>A
ENST00000683693.1:n.3593T>A
ENST00000683725.1:c.3447T>A ENSP00000507496.1:p.Cys1149Ter
ENST00000684010.1:n.3511T>A
ENST00000684157.1:n.3516T>A
ENST00000684253.1:n.3419T>A
ENST00000684288.1:c.*1619T>A ENSP00000507143.1:n.*1619T>A
ENST00000684313.1:n.2948T>A
ENST00000684332.1:n.3589T>A
ENST00000684371.1:n.3622T>A
ENST00000684404.1:n.3559T>A
ENST00000684442.1:n.3516T>A
ENST00000684555.1:c.*1659T>A ENSP00000507705.1:n.*1659T>A
ENST00000684571.1:c.3288T>A ENSP00000506935.1:p.Cys1096Ter
ENST00000684593.1:c.*3152T>A ENSP00000507005.1:n.*3152T>A
ENST00000684711.1:c.*1843T>A ENSP00000506841.1:n.*1843T>A
XM_011520331.1:c.3447T>A XP_011518633.1:p.Cys1149Ter
XM_011520332.1:c.3450T>A XP_011518634.1:p.Cys1150Ter
XM_011520333.1:c.1947T>A XP_011518635.1:p.Cys649Ter
XM_017018197.2:c.3516T>A XP_016873686.1:p.Cys1172Ter
XM_017018199.1:c.3513T>A XP_016873688.1:p.Cys1171Ter
XM_017018201.2:c.3516T>A XP_016873690.1:p.Cys1172Ter
XM_017018202.1:c.2013T>A XP_016873691.1:p.Cys671Ter
XM_017018204.1:c.1404T>A XP_016873693.1:p.Cys468Ter
XM_024448668.1:c.1815T>A XP_024304436.1:p.Cys605Ter
XR_001747945.2:n.3588T>A
XR_001747946.2:n.3519T>A
XR_002957189.1:n.3668T>A
XR_930890.1:n.3513T>A
XR_930892.1:n.3413T>A
XR_930893.1:n.3410T>A