Canonical Allele Identifier: CA171074

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397732C>T , CM000673.2:g.17397732C>T	GRCh38
NC_000011.9:g.17419279C>T , CM000673.1:g.17419279C>T	GRCh37
NC_000011.8:g.17375855C>T	NCBI36
NG_008867.1:g.84171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3323-419G>A
ENST00000528374.2:c.398G>A
ENST00000529967.6:n.2158G>A
ENST00000532220.2:n.1551G>A
ENST00000642611.2:n.3888G>A
ENST00000644057.2:n.262G>A
ENST00000645004.2:n.1318G>A
ENST00000682051.1:n.3835G>A
ENST00000682110.1:n.3888G>A
ENST00000682140.1:c.3816G>A	ENSP00000507829.1:p.Arg1272=
ENST00000682185.1:n.5124G>A
ENST00000682204.1:c.*1957G>A	ENSP00000507094.1:n.*1957G>A
ENST00000682215.1:n.3885G>A
ENST00000682288.1:c.*2250G>A	ENSP00000507506.1:n.*2250G>A
ENST00000682442.1:n.4108G>A
ENST00000682528.1:n.3965G>A
ENST00000682673.1:n.3832G>A
ENST00000682805.1:n.3885G>A
ENST00000682965.1:c.*241G>A	ENSP00000508229.1:n.*241G>A
ENST00000683093.1:n.3987G>A
ENST00000683136.1:c.3751-419G>A	ENSP00000507768.1:n.3751-419G>A
ENST00000683153.1:n.3979-419G>A
ENST00000683365.1:n.3990G>A
ENST00000683377.1:n.3888G>A
ENST00000683456.1:c.*956G>A	ENSP00000508318.1:n.*956G>A
ENST00000683522.1:n.3888G>A
ENST00000683562.1:c.*1988G>A	ENSP00000508265.1:n.*1988G>A
ENST00000683693.1:n.3965G>A
ENST00000683725.1:c.3819G>A	ENSP00000507496.1:p.Arg1273=
ENST00000684010.1:n.3883G>A
ENST00000684157.1:n.3888G>A
ENST00000684253.1:n.3791G>A
ENST00000684288.1:c.*1991G>A	ENSP00000507143.1:n.*1991G>A
ENST00000684313.1:n.3320G>A
ENST00000684332.1:n.3961G>A
ENST00000684371.1:n.3994G>A
ENST00000684404.1:n.3931G>A
ENST00000684442.1:n.3888G>A
ENST00000684555.1:c.*2031G>A	ENSP00000507705.1:n.*2031G>A
ENST00000684571.1:c.3660G>A	ENSP00000506935.1:p.Arg1220=
ENST00000684593.1:c.*3524G>A	ENSP00000507005.1:n.*3524G>A
ENST00000684711.1:c.*2215G>A	ENSP00000506841.1:n.*2215G>A
ENST00000302539.9:c.3822G>A	ENSP00000303960.4:p.Arg1274=
ENST00000389817.8:c.3819G>A MANE Select	ENSP00000374467.4:p.Arg1273=
ENST00000642271.1:c.3816G>A	ENSP00000493749.1:p.Arg1272=
ENST00000642579.1:c.1903G>A
ENST00000642611.1:n.3773G>A
ENST00000642902.1:c.3601G>A
ENST00000643260.1:c.3819G>A	ENSP00000494450.1:p.Arg1273=
ENST00000643562.1:c.*1795G>A	ENSP00000496124.1:n.*1795G>A
ENST00000643925.1:c.1943G>A
ENST00000644447.1:c.2270G>A	ENSP00000496282.1:n.2270G>A
ENST00000644484.1:c.*2074G>A	ENSP00000493558.1:n.*2074G>A
ENST00000644675.1:c.*1991G>A	ENSP00000494567.1:n.*1991G>A
ENST00000644757.1:c.*2104G>A	ENSP00000495085.1:n.*2104G>A
ENST00000644772.1:c.3885G>A	ENSP00000494321.1:p.Arg1295=
ENST00000645004.1:n.958G>A
ENST00000645076.1:c.3018G>A
ENST00000645417.1:c.1007G>A
ENST00000645744.1:c.*2083G>A	ENSP00000494564.1:n.*2083G>A
ENST00000645760.1:c.4094G>A
ENST00000645884.1:c.*956G>A	ENSP00000495516.1:n.*956G>A
ENST00000646003.1:c.*1775G>A	ENSP00000495259.1:n.*1775G>A
ENST00000646207.1:c.*2286G>A	ENSP00000495025.1:n.*2286G>A
ENST00000646276.1:c.*2092G>A	ENSP00000496070.1:n.*2092G>A
ENST00000646592.1:c.3125G>A
ENST00000646902.1:c.3816G>A	ENSP00000494101.1:p.Arg1272=
ENST00000646993.1:c.*2215G>A	ENSP00000493720.1:n.*2215G>A
ENST00000647013.1:c.3825G>A	ENSP00000496741.1:n.3825G>A
ENST00000647015.1:c.3570G>A	ENSP00000495389.1:p.Arg1190=
ENST00000647086.1:c.*3484-419G>A	ENSP00000493677.1:n.*3484-419G>A
ENST00000647158.1:c.*1960G>A	ENSP00000495744.1:n.*1960G>A
ENST00000302539.8:c.3822G>A	ENSP00000303960.4:p.Arg1274=
ENST00000389817.7:c.3819G>A	ENSP00000374467.3:p.Arg1273=
ENST00000527905.5:c.*695G>A	ENSP00000431653.1:n.*695G>A
ENST00000528374.1:c.289G>A
ENST00000531137.1:n.238G>A
ENST00000531891.1:c.187G>A
NM_000352.4:c.3819G>A	NP_000343.2:p.Arg1273=
NM_001287174.1:c.3822G>A	NP_001274103.1:p.Arg1274=
XM_011520331.1:c.3819G>A	XP_011518633.1:p.Arg1273=
XM_011520332.1:c.3822G>A	XP_011518634.1:p.Arg1274=
XM_011520333.1:c.2319G>A	XP_011518635.1:p.Arg773=
XR_930890.1:n.3885G>A
NM_001351295.1:c.3885G>A	NP_001338224.1:p.Arg1295=
NM_001351296.1:c.3819G>A	NP_001338225.1:p.Arg1273=
NM_001351297.1:c.3816G>A	NP_001338226.1:p.Arg1272=
NR_147094.1:n.3968G>A
XM_017018197.2:c.3888G>A	XP_016873686.1:p.Arg1296=
XM_017018199.1:c.3885G>A	XP_016873688.1:p.Arg1295=
XM_017018201.2:c.3888G>A	XP_016873690.1:p.Arg1296=
XM_017018202.1:c.2385G>A	XP_016873691.1:p.Arg795=
XM_017018204.1:c.1776G>A	XP_016873693.1:p.Arg592=
XM_024448668.1:c.2187G>A	XP_024304436.1:p.Arg729=
XR_001747945.2:n.3960G>A
XR_001747946.2:n.3891G>A
XR_002957189.1:n.4040G>A
NM_000352.6:c.3819G>A MANE Select	NP_000343.2:p.Arg1273=
NM_001287174.2:c.3822G>A	NP_001274103.1:p.Arg1274=
NM_001351295.2:c.3885G>A	NP_001338224.1:p.Arg1295=
NM_001351296.2:c.3819G>A	NP_001338225.1:p.Arg1273=
NM_001351297.2:c.3816G>A	NP_001338226.1:p.Arg1272=
NR_147094.2:n.3968G>A
NM_001287174.3:c.3822G>A	NP_001274103.1:p.Arg1274=