Canonical Allele Identifier: CA379790971

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418558C>G (hg19) ; chr11:g.17397011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397011C>G , CM000673.2:g.17397011C>G	GRCh38
NC_000011.9:g.17418558C>G , CM000673.1:g.17418558C>G	GRCh37
NC_000011.8:g.17375134C>G	NCBI36
NG_008867.1:g.84892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3625G>C
ENST00000528374.2:c.615G>C
ENST00000529967.6:n.2363G>C
ENST00000532220.2:n.2272G>C
ENST00000642611.2:n.4239G>C
ENST00000644057.2:n.467G>C
ENST00000645004.2:n.1523G>C
ENST00000682051.1:n.4186G>C
ENST00000682110.1:n.4239G>C
ENST00000682140.1:c.3985+182G>C	ENSP00000507829.1:n.3985+182G>C
ENST00000682185.1:n.5329G>C
ENST00000682204.1:c.*2162G>C	ENSP00000507094.1:n.*2162G>C
ENST00000682215.1:n.4606G>C
ENST00000682288.1:c.*2455G>C	ENSP00000507506.1:n.*2455G>C
ENST00000682442.1:n.4459G>C
ENST00000682528.1:n.4316G>C
ENST00000682673.1:n.4183G>C
ENST00000682805.1:n.4606G>C
ENST00000682965.1:c.*446G>C	ENSP00000508229.1:n.*446G>C
ENST00000683093.1:n.4338G>C
ENST00000683136.1:c.3907G>C	ENSP00000507768.1:p.Gly1303Arg
ENST00000683153.1:n.4281G>C
ENST00000683365.1:n.4341G>C
ENST00000683377.1:n.4239G>C
ENST00000683456.1:c.*1161G>C	ENSP00000508318.1:n.*1161G>C
ENST00000683522.1:n.4239G>C
ENST00000683562.1:c.*2193G>C	ENSP00000508265.1:n.*2193G>C
ENST00000683693.1:n.4686G>C
ENST00000683725.1:c.4024G>C	ENSP00000507496.1:p.Gly1342Arg
ENST00000684010.1:n.4234G>C
ENST00000684157.1:n.4239G>C
ENST00000684253.1:n.4142G>C
ENST00000684288.1:c.*2196G>C	ENSP00000507143.1:n.*2196G>C
ENST00000684313.1:n.3671G>C
ENST00000684332.1:n.4312G>C
ENST00000684371.1:n.4345G>C
ENST00000684404.1:n.4282G>C
ENST00000684442.1:n.4463G>C
ENST00000684555.1:c.*2236G>C	ENSP00000507705.1:n.*2236G>C
ENST00000684571.1:c.3865G>C	ENSP00000506935.1:p.Gly1289Arg
ENST00000684593.1:c.*3729G>C	ENSP00000507005.1:n.*3729G>C
ENST00000684711.1:c.*2420G>C	ENSP00000506841.1:n.*2420G>C
ENST00000302539.9:c.4027G>C	ENSP00000303960.4:p.Gly1343Arg
ENST00000389817.8:c.4024G>C MANE Select	ENSP00000374467.4:p.Gly1342Arg
ENST00000642271.1:c.4021G>C	ENSP00000493749.1:p.Gly1341Arg
ENST00000642579.1:c.2078G>C
ENST00000642611.1:n.4124G>C
ENST00000642902.1:c.3806G>C
ENST00000643260.1:c.4024G>C	ENSP00000494450.1:p.Gly1342Arg
ENST00000643562.1:c.*2146G>C	ENSP00000496124.1:n.*2146G>C
ENST00000643925.1:c.2664G>C
ENST00000644057.1:n.101G>C
ENST00000644484.1:c.*2425G>C	ENSP00000493558.1:n.*2425G>C
ENST00000644675.1:c.*2196G>C	ENSP00000494567.1:n.*2196G>C
ENST00000644757.1:c.*2455G>C	ENSP00000495085.1:n.*2455G>C
ENST00000644772.1:c.4090G>C	ENSP00000494321.1:p.Gly1364Arg
ENST00000645004.1:n.1679G>C
ENST00000645076.1:c.3223G>C
ENST00000645417.1:c.1212G>C
ENST00000645744.1:c.*2804G>C	ENSP00000494564.1:n.*2804G>C
ENST00000645760.1:c.4445G>C
ENST00000645884.1:c.*1307G>C	ENSP00000495516.1:n.*1307G>C
ENST00000646003.1:c.*2126G>C	ENSP00000495259.1:n.*2126G>C
ENST00000646207.1:c.*2861G>C	ENSP00000495025.1:n.*2861G>C
ENST00000646276.1:c.*2443G>C	ENSP00000496070.1:n.*2443G>C
ENST00000646592.1:c.3330G>C
ENST00000646902.1:c.3991G>C	ENSP00000494101.1:p.Gly1331Arg
ENST00000646993.1:c.*2566G>C	ENSP00000493720.1:n.*2566G>C
ENST00000647013.1:c.4030G>C	ENSP00000496741.1:n.4030G>C
ENST00000647015.1:c.3775G>C	ENSP00000495389.1:p.Gly1259Arg
ENST00000647086.1:c.*3610G>C	ENSP00000493677.1:n.*3610G>C
ENST00000647158.1:c.*2311G>C	ENSP00000495744.1:n.*2311G>C
ENST00000302539.8:c.4027G>C	ENSP00000303960.4:p.Gly1343Arg
ENST00000389817.7:c.4024G>C	ENSP00000374467.3:p.Gly1342Arg
ENST00000527905.5:c.*1046G>C	ENSP00000431653.1:n.*1046G>C
ENST00000528374.1:c.506G>C
ENST00000531137.1:n.589G>C
ENST00000531891.1:c.362G>C
ENST00000532220.1:n.498G>C
NM_000352.4:c.4024G>C	NP_000343.2:p.Gly1342Arg
NM_001287174.1:c.4027G>C	NP_001274103.1:p.Gly1343Arg
XM_011520331.1:c.4024G>C	XP_011518633.1:p.Gly1342Arg
XM_011520332.1:c.4027G>C	XP_011518634.1:p.Gly1343Arg
XM_011520333.1:c.2524G>C	XP_011518635.1:p.Gly842Arg
XR_930890.1:n.4090G>C
NM_001351295.1:c.4090G>C	NP_001338224.1:p.Gly1364Arg
NM_001351296.1:c.4024G>C	NP_001338225.1:p.Gly1342Arg
NM_001351297.1:c.4021G>C	NP_001338226.1:p.Gly1341Arg
NR_147094.1:n.4319G>C
XM_017018197.2:c.4093G>C	XP_016873686.1:p.Gly1365Arg
XM_017018199.1:c.4090G>C	XP_016873688.1:p.Gly1364Arg
XM_017018201.2:c.4093G>C	XP_016873690.1:p.Gly1365Arg
XM_017018202.1:c.2590G>C	XP_016873691.1:p.Gly864Arg
XM_017018204.1:c.1981G>C	XP_016873693.1:p.Gly661Arg
XM_024448668.1:c.2392G>C	XP_024304436.1:p.Gly798Arg
XR_001747945.2:n.4165G>C
XR_001747946.2:n.4096G>C
XR_002957189.1:n.4761G>C
NM_000352.6:c.4024G>C MANE Select	NP_000343.2:p.Gly1342Arg
NM_001287174.2:c.4027G>C	NP_001274103.1:p.Gly1343Arg
NM_001351295.2:c.4090G>C	NP_001338224.1:p.Gly1364Arg
NM_001351296.2:c.4024G>C	NP_001338225.1:p.Gly1342Arg
NM_001351297.2:c.4021G>C	NP_001338226.1:p.Gly1341Arg
NR_147094.2:n.4319G>C
NM_001287174.3:c.4027G>C	NP_001274103.1:p.Gly1343Arg