Canonical Allele Identifier: CA5902784

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404517C>T , CM000673.2:g.17404517C>T	GRCh38
NC_000011.9:g.17426064C>T , CM000673.1:g.17426064C>T	GRCh37
NC_000011.8:g.17382640C>T	NCBI36
NG_008867.1:g.77386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.3552G>A MANE Select	NP_000343.2:p.Ala1184=
ENST00000389817.8:c.3552G>A MANE Select	ENSP00000374467.4:p.Ala1184=
NM_000352.4:c.3552G>A	NP_000343.2:p.Ala1184=
NM_001287174.1:c.3555G>A	NP_001274103.1:p.Ala1185=
NM_001287174.2:c.3555G>A	NP_001274103.1:p.Ala1185=
NM_001287174.3:c.3555G>A	NP_001274103.1:p.Ala1185=
NM_001351295.1:c.3618G>A	NP_001338224.1:p.Ala1206=
NM_001351295.2:c.3618G>A	NP_001338224.1:p.Ala1206=
NM_001351296.1:c.3552G>A	NP_001338225.1:p.Ala1184=
NM_001351296.2:c.3552G>A	NP_001338225.1:p.Ala1184=
NM_001351297.1:c.3549G>A	NP_001338226.1:p.Ala1183=
NM_001351297.2:c.3549G>A	NP_001338226.1:p.Ala1183=
NR_147094.1:n.3701G>A
NR_147094.2:n.3701G>A
ENST00000302539.8:c.3555G>A	ENSP00000303960.4:p.Ala1185=
ENST00000302539.9:c.3555G>A	ENSP00000303960.4:p.Ala1185=
ENST00000389817.7:c.3552G>A	ENSP00000374467.3:p.Ala1184=
ENST00000524561.1:n.684G>A
ENST00000524561.2:n.3121G>A
ENST00000527905.5:c.*428G>A	ENSP00000431653.1:n.*428G>A
ENST00000528374.1:c.22G>A
ENST00000528374.2:c.131G>A
ENST00000529967.6:n.1891G>A
ENST00000531137.1:n.45G>A
ENST00000532220.2:n.1284G>A
ENST00000642271.1:c.3549G>A	ENSP00000493749.1:p.Ala1183=
ENST00000642579.1:c.1636G>A
ENST00000642611.1:n.3506G>A
ENST00000642611.2:n.3621G>A
ENST00000642902.1:c.3334G>A
ENST00000643260.1:c.3552G>A	ENSP00000494450.1:p.Ala1184=
ENST00000643562.1:c.*1528G>A	ENSP00000496124.1:n.*1528G>A
ENST00000643925.1:c.1676G>A
ENST00000644447.1:c.1908G>A	ENSP00000496282.1:p.Ala636=
ENST00000644484.1:c.*1807G>A	ENSP00000493558.1:n.*1807G>A
ENST00000644675.1:c.*1724G>A	ENSP00000494567.1:n.*1724G>A
ENST00000644757.1:c.*1837G>A	ENSP00000495085.1:n.*1837G>A
ENST00000644772.1:c.3618G>A	ENSP00000494321.1:p.Ala1206=
ENST00000645004.1:n.691G>A
ENST00000645004.2:n.1051G>A
ENST00000645076.1:c.2751G>A
ENST00000645417.1:c.718G>A
ENST00000645744.1:c.*1816G>A	ENSP00000494564.1:n.*1816G>A
ENST00000645760.1:c.3827G>A
ENST00000645884.1:c.*689G>A	ENSP00000495516.1:n.*689G>A
ENST00000646003.1:c.*1508G>A	ENSP00000495259.1:n.*1508G>A
ENST00000646207.1:c.*2019G>A	ENSP00000495025.1:n.*2019G>A
ENST00000646276.1:c.*1825G>A	ENSP00000496070.1:n.*1825G>A
ENST00000646592.1:c.2858G>A
ENST00000646902.1:c.3549G>A	ENSP00000494101.1:p.Ala1183=
ENST00000646993.1:c.*1948G>A	ENSP00000493720.1:n.*1948G>A
ENST00000647013.1:c.3558G>A	ENSP00000496741.1:n.3558G>A
ENST00000647015.1:c.3303G>A	ENSP00000495389.1:p.Ala1101=
ENST00000647086.1:c.*3282G>A	ENSP00000493677.1:n.*3282G>A
ENST00000647158.1:c.*1693G>A	ENSP00000495744.1:n.*1693G>A
ENST00000682051.1:n.3568G>A
ENST00000682110.1:n.3621G>A
ENST00000682140.1:c.3549G>A	ENSP00000507829.1:p.Ala1183=
ENST00000682185.1:n.4857G>A
ENST00000682204.1:c.*1690G>A	ENSP00000507094.1:n.*1690G>A
ENST00000682215.1:n.3618G>A
ENST00000682288.1:c.*1983G>A	ENSP00000507506.1:n.*1983G>A
ENST00000682442.1:n.3841G>A
ENST00000682528.1:n.3698G>A
ENST00000682673.1:n.3565G>A
ENST00000682805.1:n.3618G>A
ENST00000682965.1:c.3396+977G>A	ENSP00000508229.1:n.3396+977G>A
ENST00000683093.1:n.3720G>A
ENST00000683136.1:c.3549G>A	ENSP00000507768.1:p.Ala1183=
ENST00000683153.1:n.3777G>A
ENST00000683365.1:n.3723G>A
ENST00000683377.1:n.3621G>A
ENST00000683456.1:c.*689G>A	ENSP00000508318.1:n.*689G>A
ENST00000683522.1:n.3621G>A
ENST00000683562.1:c.*1721G>A	ENSP00000508265.1:n.*1721G>A
ENST00000683693.1:n.3698G>A
ENST00000683725.1:c.3552G>A	ENSP00000507496.1:p.Ala1184=
ENST00000684010.1:n.3616G>A
ENST00000684157.1:n.3621G>A
ENST00000684253.1:n.3524G>A
ENST00000684288.1:c.*1724G>A	ENSP00000507143.1:n.*1724G>A
ENST00000684313.1:n.3053G>A
ENST00000684332.1:n.3694G>A
ENST00000684371.1:n.3727G>A
ENST00000684404.1:n.3664G>A
ENST00000684442.1:n.3621G>A
ENST00000684555.1:c.*1764G>A	ENSP00000507705.1:n.*1764G>A
ENST00000684571.1:c.3393G>A	ENSP00000506935.1:p.Ala1131=
ENST00000684593.1:c.*3257G>A	ENSP00000507005.1:n.*3257G>A
ENST00000684711.1:c.*1948G>A	ENSP00000506841.1:n.*1948G>A
XM_011520331.1:c.3552G>A	XP_011518633.1:p.Ala1184=
XM_011520332.1:c.3555G>A	XP_011518634.1:p.Ala1185=
XM_011520333.1:c.2052G>A	XP_011518635.1:p.Ala684=
XM_017018197.2:c.3621G>A	XP_016873686.1:p.Ala1207=
XM_017018199.1:c.3618G>A	XP_016873688.1:p.Ala1206=
XM_017018201.2:c.3621G>A	XP_016873690.1:p.Ala1207=
XM_017018202.1:c.2118G>A	XP_016873691.1:p.Ala706=
XM_017018204.1:c.1509G>A	XP_016873693.1:p.Ala503=
XM_024448668.1:c.1920G>A	XP_024304436.1:p.Ala640=
XR_001747945.2:n.3693G>A
XR_001747946.2:n.3624G>A
XR_002957189.1:n.3773G>A
XR_930890.1:n.3618G>A
XR_930892.1:n.3518G>A
XR_930893.1:n.3515G>A