Canonical Allele Identifier: CA5903313

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17427870G>A , CM000673.2:g.17427870G>A	GRCh38
NC_000011.9:g.17449417G>A , CM000673.1:g.17449417G>A	GRCh37
NC_000011.8:g.17405993G>A	NCBI36
NG_008867.1:g.54033C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2113C>T MANE Select	NP_000343.2:p.Arg705Ter
ENST00000389817.8:c.2113C>T MANE Select	ENSP00000374467.4:p.Arg705Ter
NM_000352.4:c.2113C>T	NP_000343.2:p.Arg705Ter
NM_001287174.1:c.2113C>T	NP_001274103.1:p.Arg705Ter
NM_001287174.2:c.2113C>T	NP_001274103.1:p.Arg705Ter
NM_001287174.3:c.2113C>T	NP_001274103.1:p.Arg705Ter
NM_001351295.1:c.2179C>T	NP_001338224.1:p.Arg727Ter
NM_001351295.2:c.2179C>T	NP_001338224.1:p.Arg727Ter
NM_001351296.1:c.2110C>T	NP_001338225.1:p.Arg704Ter
NM_001351296.2:c.2110C>T	NP_001338225.1:p.Arg704Ter
NM_001351297.1:c.2110C>T	NP_001338226.1:p.Arg704Ter
NM_001351297.2:c.2110C>T	NP_001338226.1:p.Arg704Ter
NR_147094.1:n.2179C>T
NR_147094.2:n.2179C>T
ENST00000302539.8:c.2113C>T	ENSP00000303960.4:p.Arg705Ter
ENST00000302539.9:c.2113C>T	ENSP00000303960.4:p.Arg705Ter
ENST00000389817.7:c.2113C>T	ENSP00000374467.3:p.Arg705Ter
ENST00000524561.2:n.1782C>T
ENST00000527905.5:c.2083C>T	ENSP00000431653.1:p.Arg695Ter
ENST00000529967.6:n.372C>T
ENST00000531911.1:n.224C>T
ENST00000642271.1:c.2110C>T	ENSP00000493749.1:p.Arg704Ter
ENST00000642579.1:c.194C>T
ENST00000642611.1:n.2064C>T
ENST00000642611.2:n.2179C>T
ENST00000642902.1:c.1948C>T
ENST00000643260.1:c.2110C>T	ENSP00000494450.1:p.Arg704Ter
ENST00000643562.1:c.*89C>T	ENSP00000496124.1:n.*89C>T
ENST00000643925.1:c.50C>T
ENST00000644447.1:c.466C>T	ENSP00000496282.1:p.Arg156Ter
ENST00000644472.1:c.*474C>T	ENSP00000495378.1:n.*474C>T
ENST00000644484.1:c.*322C>T	ENSP00000493558.1:n.*322C>T
ENST00000644542.1:c.*1815C>T	ENSP00000495532.1:n.*1815C>T
ENST00000644675.1:c.*282C>T	ENSP00000494567.1:n.*282C>T
ENST00000644757.1:c.*415C>T	ENSP00000495085.1:n.*415C>T
ENST00000644772.1:c.2179C>T	ENSP00000494321.1:p.Arg727Ter
ENST00000645076.1:c.1365C>T
ENST00000645744.1:c.*474C>T	ENSP00000494564.1:n.*474C>T
ENST00000645760.1:c.2388C>T
ENST00000645884.1:c.2110C>T	ENSP00000495516.1:p.Arg704Ter
ENST00000646003.1:c.*251C>T	ENSP00000495259.1:n.*251C>T
ENST00000646207.1:c.*474C>T	ENSP00000495025.1:n.*474C>T
ENST00000646276.1:c.*383C>T	ENSP00000496070.1:n.*383C>T
ENST00000646592.1:c.1336C>T
ENST00000646902.1:c.2110C>T	ENSP00000494101.1:p.Arg704Ter
ENST00000646993.1:c.*509C>T	ENSP00000493720.1:n.*509C>T
ENST00000647013.1:c.2116C>T	ENSP00000496741.1:n.2116C>T
ENST00000647015.1:c.1861C>T	ENSP00000495389.1:p.Arg621Ter
ENST00000647086.1:c.*1840C>T	ENSP00000493677.1:n.*1840C>T
ENST00000647158.1:c.*251C>T	ENSP00000495744.1:n.*251C>T
ENST00000682051.1:n.2126C>T
ENST00000682110.1:n.2179C>T
ENST00000682140.1:c.2110C>T	ENSP00000507829.1:p.Arg704Ter
ENST00000682185.1:n.3418C>T
ENST00000682204.1:c.*251C>T	ENSP00000507094.1:n.*251C>T
ENST00000682215.1:n.2179C>T
ENST00000682288.1:c.*541C>T	ENSP00000507506.1:n.*541C>T
ENST00000682442.1:n.2300C>T
ENST00000682528.1:n.2179C>T
ENST00000682673.1:n.2126C>T
ENST00000682805.1:n.2179C>T
ENST00000682965.1:c.2110C>T	ENSP00000508229.1:p.Arg704Ter
ENST00000683093.1:n.2281C>T
ENST00000683136.1:c.2110C>T	ENSP00000507768.1:p.Arg704Ter
ENST00000683153.1:n.2338C>T
ENST00000683253.1:n.3195C>T
ENST00000683365.1:n.2281C>T
ENST00000683377.1:n.2179C>T
ENST00000683456.1:c.2110C>T	ENSP00000508318.1:p.Arg704Ter
ENST00000683522.1:n.2179C>T
ENST00000683562.1:c.*282C>T	ENSP00000508265.1:n.*282C>T
ENST00000683693.1:n.2179C>T
ENST00000683725.1:c.2113C>T	ENSP00000507496.1:p.Arg705Ter
ENST00000684010.1:n.2179C>T
ENST00000684157.1:n.2179C>T
ENST00000684253.1:n.2085C>T
ENST00000684288.1:c.*282C>T	ENSP00000507143.1:n.*282C>T
ENST00000684313.1:n.1724-10908C>T
ENST00000684332.1:n.2252C>T
ENST00000684371.1:n.2285C>T
ENST00000684404.1:n.2179C>T
ENST00000684442.1:n.2179C>T
ENST00000684555.1:c.*322C>T	ENSP00000507705.1:n.*322C>T
ENST00000684571.1:c.1954C>T	ENSP00000506935.1:p.Arg652Ter
ENST00000684593.1:c.*1818C>T	ENSP00000507005.1:n.*1818C>T
ENST00000684711.1:c.*509C>T	ENSP00000506841.1:n.*509C>T
XM_011520331.1:c.2110C>T	XP_011518633.1:p.Arg704Ter
XM_011520332.1:c.2113C>T	XP_011518634.1:p.Arg705Ter
XM_011520333.1:c.610C>T	XP_011518635.1:p.Arg204Ter
XM_011520334.1:c.2113C>T	XP_011518636.1:p.Arg705Ter
XM_017018197.2:c.2179C>T	XP_016873686.1:p.Arg727Ter
XM_017018199.1:c.2176C>T	XP_016873688.1:p.Arg726Ter
XM_017018201.2:c.2179C>T	XP_016873690.1:p.Arg727Ter
XM_017018202.1:c.676C>T	XP_016873691.1:p.Arg226Ter
XM_017018204.1:c.70C>T	XP_016873693.1:p.Arg24Ter
XM_024448668.1:c.478C>T	XP_024304436.1:p.Arg160Ter
XR_001747945.2:n.2251C>T
XR_001747946.2:n.2185C>T
XR_002957189.1:n.2251C>T
XR_930890.1:n.2176C>T
XR_930891.1:n.2176C>T
XR_930892.1:n.2176C>T
XR_930893.1:n.2176C>T