Canonical Allele Identifier: CA379793539

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397767C>T , CM000673.2:g.17397767C>T	GRCh38
NC_000011.9:g.17419314C>T , CM000673.1:g.17419314C>T	GRCh37
NC_000011.8:g.17375890C>T	NCBI36
NG_008867.1:g.84136G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3784G>A MANE Select	NP_000343.2:p.Ala1262Thr
ENST00000389817.8:c.3784G>A MANE Select	ENSP00000374467.4:p.Ala1262Thr
NM_000352.4:c.3784G>A	NP_000343.2:p.Ala1262Thr
NM_001287174.1:c.3787G>A	NP_001274103.1:p.Ala1263Thr
NM_001287174.2:c.3787G>A	NP_001274103.1:p.Ala1263Thr
NM_001287174.3:c.3787G>A	NP_001274103.1:p.Ala1263Thr
NM_001351295.1:c.3850G>A	NP_001338224.1:p.Ala1284Thr
NM_001351295.2:c.3850G>A	NP_001338224.1:p.Ala1284Thr
NM_001351296.1:c.3784G>A	NP_001338225.1:p.Ala1262Thr
NM_001351296.2:c.3784G>A	NP_001338225.1:p.Ala1262Thr
NM_001351297.1:c.3781G>A	NP_001338226.1:p.Ala1261Thr
NM_001351297.2:c.3781G>A	NP_001338226.1:p.Ala1261Thr
NR_147094.1:n.3933G>A
NR_147094.2:n.3933G>A
ENST00000302539.8:c.3787G>A	ENSP00000303960.4:p.Ala1263Thr
ENST00000302539.9:c.3787G>A	ENSP00000303960.4:p.Ala1263Thr
ENST00000389817.7:c.3784G>A	ENSP00000374467.3:p.Ala1262Thr
ENST00000524561.2:n.3323-454G>A
ENST00000527905.5:c.*660G>A	ENSP00000431653.1:n.*660G>A
ENST00000528374.1:c.254G>A
ENST00000528374.2:c.363G>A
ENST00000529967.6:n.2123G>A
ENST00000531137.1:n.203G>A
ENST00000531891.1:c.152G>A
ENST00000532220.2:n.1516G>A
ENST00000642271.1:c.3781G>A	ENSP00000493749.1:p.Ala1261Thr
ENST00000642579.1:c.1868G>A
ENST00000642611.1:n.3738G>A
ENST00000642611.2:n.3853G>A
ENST00000642902.1:c.3566G>A
ENST00000643260.1:c.3784G>A	ENSP00000494450.1:p.Ala1262Thr
ENST00000643562.1:c.*1760G>A	ENSP00000496124.1:n.*1760G>A
ENST00000643925.1:c.1908G>A
ENST00000644057.2:n.227G>A
ENST00000644447.1:c.2235G>A	ENSP00000496282.1:n.2235G>A
ENST00000644484.1:c.*2039G>A	ENSP00000493558.1:n.*2039G>A
ENST00000644675.1:c.*1956G>A	ENSP00000494567.1:n.*1956G>A
ENST00000644757.1:c.*2069G>A	ENSP00000495085.1:n.*2069G>A
ENST00000644772.1:c.3850G>A	ENSP00000494321.1:p.Ala1284Thr
ENST00000645004.1:n.923G>A
ENST00000645004.2:n.1283G>A
ENST00000645076.1:c.2983G>A
ENST00000645417.1:c.972G>A
ENST00000645744.1:c.*2048G>A	ENSP00000494564.1:n.*2048G>A
ENST00000645760.1:c.4059G>A
ENST00000645884.1:c.*921G>A	ENSP00000495516.1:n.*921G>A
ENST00000646003.1:c.*1740G>A	ENSP00000495259.1:n.*1740G>A
ENST00000646207.1:c.*2251G>A	ENSP00000495025.1:n.*2251G>A
ENST00000646276.1:c.*2057G>A	ENSP00000496070.1:n.*2057G>A
ENST00000646592.1:c.3090G>A
ENST00000646902.1:c.3781G>A	ENSP00000494101.1:p.Ala1261Thr
ENST00000646993.1:c.*2180G>A	ENSP00000493720.1:n.*2180G>A
ENST00000647013.1:c.3790G>A	ENSP00000496741.1:n.3790G>A
ENST00000647015.1:c.3535G>A	ENSP00000495389.1:p.Ala1179Thr
ENST00000647086.1:c.*3484-454G>A	ENSP00000493677.1:n.*3484-454G>A
ENST00000647158.1:c.*1925G>A	ENSP00000495744.1:n.*1925G>A
ENST00000682051.1:n.3800G>A
ENST00000682110.1:n.3853G>A
ENST00000682140.1:c.3781G>A	ENSP00000507829.1:p.Ala1261Thr
ENST00000682185.1:n.5089G>A
ENST00000682204.1:c.*1922G>A	ENSP00000507094.1:n.*1922G>A
ENST00000682215.1:n.3850G>A
ENST00000682288.1:c.*2215G>A	ENSP00000507506.1:n.*2215G>A
ENST00000682442.1:n.4073G>A
ENST00000682528.1:n.3930G>A
ENST00000682673.1:n.3797G>A
ENST00000682805.1:n.3850G>A
ENST00000682965.1:c.*206G>A	ENSP00000508229.1:n.*206G>A
ENST00000683093.1:n.3952G>A
ENST00000683136.1:c.3751-454G>A	ENSP00000507768.1:n.3751-454G>A
ENST00000683153.1:n.3979-454G>A
ENST00000683365.1:n.3955G>A
ENST00000683377.1:n.3853G>A
ENST00000683456.1:c.*921G>A	ENSP00000508318.1:n.*921G>A
ENST00000683522.1:n.3853G>A
ENST00000683562.1:c.*1953G>A	ENSP00000508265.1:n.*1953G>A
ENST00000683693.1:n.3930G>A
ENST00000683725.1:c.3784G>A	ENSP00000507496.1:p.Ala1262Thr
ENST00000684010.1:n.3848G>A
ENST00000684157.1:n.3853G>A
ENST00000684253.1:n.3756G>A
ENST00000684288.1:c.*1956G>A	ENSP00000507143.1:n.*1956G>A
ENST00000684313.1:n.3285G>A
ENST00000684332.1:n.3926G>A
ENST00000684371.1:n.3959G>A
ENST00000684404.1:n.3896G>A
ENST00000684442.1:n.3853G>A
ENST00000684555.1:c.*1996G>A	ENSP00000507705.1:n.*1996G>A
ENST00000684571.1:c.3625G>A	ENSP00000506935.1:p.Ala1209Thr
ENST00000684593.1:c.*3489G>A	ENSP00000507005.1:n.*3489G>A
ENST00000684711.1:c.*2180G>A	ENSP00000506841.1:n.*2180G>A
XM_011520331.1:c.3784G>A	XP_011518633.1:p.Ala1262Thr
XM_011520332.1:c.3787G>A	XP_011518634.1:p.Ala1263Thr
XM_011520333.1:c.2284G>A	XP_011518635.1:p.Ala762Thr
XM_017018197.2:c.3853G>A	XP_016873686.1:p.Ala1285Thr
XM_017018199.1:c.3850G>A	XP_016873688.1:p.Ala1284Thr
XM_017018201.2:c.3853G>A	XP_016873690.1:p.Ala1285Thr
XM_017018202.1:c.2350G>A	XP_016873691.1:p.Ala784Thr
XM_017018204.1:c.1741G>A	XP_016873693.1:p.Ala581Thr
XM_024448668.1:c.2152G>A	XP_024304436.1:p.Ala718Thr
XR_001747945.2:n.3925G>A
XR_001747946.2:n.3856G>A
XR_002957189.1:n.4005G>A
XR_930890.1:n.3850G>A