Canonical Allele Identifier: CA379797413

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404527A>T , CM000673.2:g.17404527A>T	GRCh38
NC_000011.9:g.17426074A>T , CM000673.1:g.17426074A>T	GRCh37
NC_000011.8:g.17382650A>T	NCBI36
NG_008867.1:g.77376T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3542T>A MANE Select	NP_000343.2:p.Phe1181Tyr
ENST00000389817.8:c.3542T>A MANE Select	ENSP00000374467.4:p.Phe1181Tyr
NM_000352.4:c.3542T>A	NP_000343.2:p.Phe1181Tyr
NM_001287174.1:c.3545T>A	NP_001274103.1:p.Phe1182Tyr
NM_001287174.2:c.3545T>A	NP_001274103.1:p.Phe1182Tyr
NM_001287174.3:c.3545T>A	NP_001274103.1:p.Phe1182Tyr
NM_001351295.1:c.3608T>A	NP_001338224.1:p.Phe1203Tyr
NM_001351295.2:c.3608T>A	NP_001338224.1:p.Phe1203Tyr
NM_001351296.1:c.3542T>A	NP_001338225.1:p.Phe1181Tyr
NM_001351296.2:c.3542T>A	NP_001338225.1:p.Phe1181Tyr
NM_001351297.1:c.3539T>A	NP_001338226.1:p.Phe1180Tyr
NM_001351297.2:c.3539T>A	NP_001338226.1:p.Phe1180Tyr
NR_147094.1:n.3691T>A
NR_147094.2:n.3691T>A
ENST00000302539.8:c.3545T>A	ENSP00000303960.4:p.Phe1182Tyr
ENST00000302539.9:c.3545T>A	ENSP00000303960.4:p.Phe1182Tyr
ENST00000389817.7:c.3542T>A	ENSP00000374467.3:p.Phe1181Tyr
ENST00000524561.1:n.674T>A
ENST00000524561.2:n.3111T>A
ENST00000527905.5:c.*418T>A	ENSP00000431653.1:n.*418T>A
ENST00000528374.1:c.12T>A
ENST00000528374.2:c.121T>A
ENST00000529967.6:n.1881T>A
ENST00000531137.1:n.35T>A
ENST00000532220.2:n.1274T>A
ENST00000642271.1:c.3539T>A	ENSP00000493749.1:p.Phe1180Tyr
ENST00000642579.1:c.1626T>A
ENST00000642611.1:n.3496T>A
ENST00000642611.2:n.3611T>A
ENST00000642902.1:c.3324T>A
ENST00000643260.1:c.3542T>A	ENSP00000494450.1:p.Phe1181Tyr
ENST00000643562.1:c.*1518T>A	ENSP00000496124.1:n.*1518T>A
ENST00000643925.1:c.1666T>A
ENST00000644447.1:c.1898T>A	ENSP00000496282.1:p.Phe633Tyr
ENST00000644484.1:c.*1797T>A	ENSP00000493558.1:n.*1797T>A
ENST00000644675.1:c.*1714T>A	ENSP00000494567.1:n.*1714T>A
ENST00000644757.1:c.*1827T>A	ENSP00000495085.1:n.*1827T>A
ENST00000644772.1:c.3608T>A	ENSP00000494321.1:p.Phe1203Tyr
ENST00000645004.1:n.681T>A
ENST00000645004.2:n.1041T>A
ENST00000645076.1:c.2741T>A
ENST00000645417.1:c.708T>A
ENST00000645744.1:c.*1806T>A	ENSP00000494564.1:n.*1806T>A
ENST00000645760.1:c.3817T>A
ENST00000645884.1:c.*679T>A	ENSP00000495516.1:n.*679T>A
ENST00000646003.1:c.*1498T>A	ENSP00000495259.1:n.*1498T>A
ENST00000646207.1:c.*2009T>A	ENSP00000495025.1:n.*2009T>A
ENST00000646276.1:c.*1815T>A	ENSP00000496070.1:n.*1815T>A
ENST00000646592.1:c.2848T>A
ENST00000646902.1:c.3539T>A	ENSP00000494101.1:p.Phe1180Tyr
ENST00000646993.1:c.*1938T>A	ENSP00000493720.1:n.*1938T>A
ENST00000647013.1:c.3548T>A	ENSP00000496741.1:n.3548T>A
ENST00000647015.1:c.3293T>A	ENSP00000495389.1:p.Phe1098Tyr
ENST00000647086.1:c.*3272T>A	ENSP00000493677.1:n.*3272T>A
ENST00000647158.1:c.*1683T>A	ENSP00000495744.1:n.*1683T>A
ENST00000682051.1:n.3558T>A
ENST00000682110.1:n.3611T>A
ENST00000682140.1:c.3539T>A	ENSP00000507829.1:p.Phe1180Tyr
ENST00000682185.1:n.4847T>A
ENST00000682204.1:c.*1680T>A	ENSP00000507094.1:n.*1680T>A
ENST00000682215.1:n.3608T>A
ENST00000682288.1:c.*1973T>A	ENSP00000507506.1:n.*1973T>A
ENST00000682442.1:n.3831T>A
ENST00000682528.1:n.3688T>A
ENST00000682673.1:n.3555T>A
ENST00000682805.1:n.3608T>A
ENST00000682965.1:c.3396+967T>A	ENSP00000508229.1:n.3396+967T>A
ENST00000683093.1:n.3710T>A
ENST00000683136.1:c.3539T>A	ENSP00000507768.1:p.Phe1180Tyr
ENST00000683153.1:n.3767T>A
ENST00000683365.1:n.3713T>A
ENST00000683377.1:n.3611T>A
ENST00000683456.1:c.*679T>A	ENSP00000508318.1:n.*679T>A
ENST00000683522.1:n.3611T>A
ENST00000683562.1:c.*1711T>A	ENSP00000508265.1:n.*1711T>A
ENST00000683693.1:n.3688T>A
ENST00000683725.1:c.3542T>A	ENSP00000507496.1:p.Phe1181Tyr
ENST00000684010.1:n.3606T>A
ENST00000684157.1:n.3611T>A
ENST00000684253.1:n.3514T>A
ENST00000684288.1:c.*1714T>A	ENSP00000507143.1:n.*1714T>A
ENST00000684313.1:n.3043T>A
ENST00000684332.1:n.3684T>A
ENST00000684371.1:n.3717T>A
ENST00000684404.1:n.3654T>A
ENST00000684442.1:n.3611T>A
ENST00000684555.1:c.*1754T>A	ENSP00000507705.1:n.*1754T>A
ENST00000684571.1:c.3383T>A	ENSP00000506935.1:p.Phe1128Tyr
ENST00000684593.1:c.*3247T>A	ENSP00000507005.1:n.*3247T>A
ENST00000684711.1:c.*1938T>A	ENSP00000506841.1:n.*1938T>A
XM_011520331.1:c.3542T>A	XP_011518633.1:p.Phe1181Tyr
XM_011520332.1:c.3545T>A	XP_011518634.1:p.Phe1182Tyr
XM_011520333.1:c.2042T>A	XP_011518635.1:p.Phe681Tyr
XM_017018197.2:c.3611T>A	XP_016873686.1:p.Phe1204Tyr
XM_017018199.1:c.3608T>A	XP_016873688.1:p.Phe1203Tyr
XM_017018201.2:c.3611T>A	XP_016873690.1:p.Phe1204Tyr
XM_017018202.1:c.2108T>A	XP_016873691.1:p.Phe703Tyr
XM_017018204.1:c.1499T>A	XP_016873693.1:p.Phe500Tyr
XM_024448668.1:c.1910T>A	XP_024304436.1:p.Phe637Tyr
XR_001747945.2:n.3683T>A
XR_001747946.2:n.3614T>A
XR_002957189.1:n.3763T>A
XR_930890.1:n.3608T>A
XR_930892.1:n.3508T>A
XR_930893.1:n.3505T>A