Canonical Allele Identifier: CA379804868
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17408406G>A , CM000673.2:g.17408406G>A GRCh38
NC_000011.9:g.17429953G>A , CM000673.1:g.17429953G>A GRCh37
NC_000011.8:g.17386529G>A NCBI36
NG_008867.1:g.73497C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2475C>T
ENST00000529967.6:n.1065C>T
ENST00000532220.2:n.538C>T
ENST00000642611.2:n.2875C>T
ENST00000682051.1:n.2822C>T
ENST00000682110.1:n.2875C>T
ENST00000682140.1:c.2803C>T ENSP00000507829.1:p.Gln935Ter
ENST00000682185.1:n.4111C>T
ENST00000682204.1:c.*944C>T ENSP00000507094.1:n.*944C>T
ENST00000682215.1:n.2872C>T
ENST00000682288.1:c.*1237C>T ENSP00000507506.1:n.*1237C>T
ENST00000682442.1:n.2996C>T
ENST00000682528.1:n.2872C>T
ENST00000682673.1:n.2819C>T
ENST00000682805.1:n.2872C>T
ENST00000682965.1:c.2803C>T ENSP00000508229.1:p.Gln935Ter
ENST00000683093.1:n.2974C>T
ENST00000683136.1:c.2803C>T ENSP00000507768.1:p.Gln935Ter
ENST00000683153.1:n.3031C>T
ENST00000683365.1:n.2977C>T
ENST00000683377.1:n.2875C>T
ENST00000683456.1:c.2806C>T ENSP00000508318.1:p.Gln936Ter
ENST00000683522.1:n.2875C>T
ENST00000683562.1:c.*975C>T ENSP00000508265.1:n.*975C>T
ENST00000683693.1:n.2872C>T
ENST00000683725.1:c.2806C>T ENSP00000507496.1:p.Gln936Ter
ENST00000684010.1:n.2790C>T
ENST00000684157.1:n.2875C>T
ENST00000684253.1:n.2778C>T
ENST00000684288.1:c.*978C>T ENSP00000507143.1:n.*978C>T
ENST00000684313.1:n.2307C>T
ENST00000684332.1:n.2948C>T
ENST00000684371.1:n.2981C>T
ENST00000684404.1:n.2872C>T
ENST00000684442.1:n.2875C>T
ENST00000684555.1:c.*1018C>T ENSP00000507705.1:n.*1018C>T
ENST00000684571.1:c.2647C>T ENSP00000506935.1:p.Gln883Ter
ENST00000684593.1:c.*2511C>T ENSP00000507005.1:n.*2511C>T
ENST00000684711.1:c.*1202C>T ENSP00000506841.1:n.*1202C>T
ENST00000302539.9:c.2809C>T ENSP00000303960.4:p.Gln937Ter
ENST00000389817.8:c.2806C>T MANE Select ENSP00000374467.4:p.Gln936Ter
ENST00000642271.1:c.2803C>T ENSP00000493749.1:p.Gln935Ter
ENST00000642579.1:c.890C>T
ENST00000642611.1:n.2760C>T
ENST00000642902.1:c.2641C>T
ENST00000643260.1:c.2806C>T ENSP00000494450.1:p.Gln936Ter
ENST00000643562.1:c.*782C>T ENSP00000496124.1:n.*782C>T
ENST00000643925.1:c.850C>T
ENST00000644447.1:c.1162C>T ENSP00000496282.1:p.Gln388Ter
ENST00000644484.1:c.*1015C>T ENSP00000493558.1:n.*1015C>T
ENST00000644542.1:c.*2511C>T ENSP00000495532.1:n.*2511C>T
ENST00000644675.1:c.*978C>T ENSP00000494567.1:n.*978C>T
ENST00000644757.1:c.*1111C>T ENSP00000495085.1:n.*1111C>T
ENST00000644772.1:c.2872C>T ENSP00000494321.1:p.Gln958Ter
ENST00000645076.1:c.2058C>T
ENST00000645744.1:c.*1170C>T ENSP00000494564.1:n.*1170C>T
ENST00000645760.1:c.3081C>T
ENST00000645884.1:c.2806C>T ENSP00000495516.1:p.Gln936Ter
ENST00000646003.1:c.*862C>T ENSP00000495259.1:n.*862C>T
ENST00000646207.1:c.*1170C>T ENSP00000495025.1:n.*1170C>T
ENST00000646276.1:c.*1079C>T ENSP00000496070.1:n.*1079C>T
ENST00000646592.1:c.2032C>T
ENST00000646902.1:c.2803C>T ENSP00000494101.1:p.Gln935Ter
ENST00000646993.1:c.*1202C>T ENSP00000493720.1:n.*1202C>T
ENST00000647013.1:c.2812C>T ENSP00000496741.1:n.2812C>T
ENST00000647015.1:c.2557C>T ENSP00000495389.1:p.Gln853Ter
ENST00000647086.1:c.*2536C>T ENSP00000493677.1:n.*2536C>T
ENST00000647158.1:c.*947C>T ENSP00000495744.1:n.*947C>T
ENST00000302539.8:c.2809C>T ENSP00000303960.4:p.Gln937Ter
ENST00000389817.7:c.2806C>T ENSP00000374467.3:p.Gln936Ter
ENST00000526921.5:n.490C>T
ENST00000527905.5:c.2776C>T ENSP00000431653.1:p.Gln926Ter
ENST00000529967.5:n.475C>T
NM_000352.4:c.2806C>T NP_000343.2:p.Gln936Ter
NM_001287174.1:c.2809C>T NP_001274103.1:p.Gln937Ter
XM_011520331.1:c.2806C>T XP_011518633.1:p.Gln936Ter
XM_011520332.1:c.2809C>T XP_011518634.1:p.Gln937Ter
XM_011520333.1:c.1306C>T XP_011518635.1:p.Gln436Ter
XM_011520334.1:c.2809C>T XP_011518636.1:p.Gln937Ter
XR_930890.1:n.2872C>T
XR_930891.1:n.2872C>T
XR_930892.1:n.2872C>T
XR_930893.1:n.2869C>T
NM_001351295.1:c.2872C>T NP_001338224.1:p.Gln958Ter
NM_001351296.1:c.2806C>T NP_001338225.1:p.Gln936Ter
NM_001351297.1:c.2803C>T NP_001338226.1:p.Gln935Ter
NR_147094.1:n.2875C>T
XM_017018197.2:c.2875C>T XP_016873686.1:p.Gln959Ter
XM_017018199.1:c.2872C>T XP_016873688.1:p.Gln958Ter
XM_017018201.2:c.2875C>T XP_016873690.1:p.Gln959Ter
XM_017018202.1:c.1372C>T XP_016873691.1:p.Gln458Ter
XM_017018204.1:c.763C>T XP_016873693.1:p.Gln255Ter
XM_024448668.1:c.1174C>T XP_024304436.1:p.Gln392Ter
XR_001747945.2:n.2947C>T
XR_001747946.2:n.2878C>T
XR_002957189.1:n.2947C>T
NM_000352.6:c.2806C>T MANE Select NP_000343.2:p.Gln936Ter
NM_001287174.2:c.2809C>T NP_001274103.1:p.Gln937Ter
NM_001351295.2:c.2872C>T NP_001338224.1:p.Gln958Ter
NM_001351296.2:c.2806C>T NP_001338225.1:p.Gln936Ter
NM_001351297.2:c.2803C>T NP_001338226.1:p.Gln935Ter
NR_147094.2:n.2875C>T
NM_001287174.3:c.2809C>T NP_001274103.1:p.Gln937Ter