Canonical Allele Identifier: CA379802804

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428266A>G (hg19) ; chr11:g.17406719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406719A>G , CM000673.2:g.17406719A>G	GRCh38
NC_000011.9:g.17428266A>G , CM000673.1:g.17428266A>G	GRCh37
NC_000011.8:g.17384842A>G	NCBI36
NG_008867.1:g.75184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2801T>C
ENST00000529967.6:n.1571T>C
ENST00000532220.2:n.964T>C
ENST00000642611.2:n.3301T>C
ENST00000645004.2:n.731T>C
ENST00000682051.1:n.3248T>C
ENST00000682110.1:n.3301T>C
ENST00000682140.1:c.3229T>C	ENSP00000507829.1:p.Cys1077Arg
ENST00000682185.1:n.4537T>C
ENST00000682204.1:c.*1370T>C	ENSP00000507094.1:n.*1370T>C
ENST00000682215.1:n.3298T>C
ENST00000682288.1:c.*1663T>C	ENSP00000507506.1:n.*1663T>C
ENST00000682442.1:n.3521T>C
ENST00000682528.1:n.3378T>C
ENST00000682673.1:n.3245T>C
ENST00000682805.1:n.3298T>C
ENST00000682965.1:c.3229T>C	ENSP00000508229.1:p.Cys1077Arg
ENST00000683093.1:n.3400T>C
ENST00000683136.1:c.3229T>C	ENSP00000507768.1:p.Cys1077Arg
ENST00000683153.1:n.3457T>C
ENST00000683365.1:n.3403T>C
ENST00000683377.1:n.3301T>C
ENST00000683456.1:c.*369T>C	ENSP00000508318.1:n.*369T>C
ENST00000683522.1:n.3301T>C
ENST00000683562.1:c.*1401T>C	ENSP00000508265.1:n.*1401T>C
ENST00000683693.1:n.3378T>C
ENST00000683725.1:c.3232T>C	ENSP00000507496.1:p.Cys1078Arg
ENST00000684010.1:n.3296T>C
ENST00000684157.1:n.3301T>C
ENST00000684253.1:n.3204T>C
ENST00000684288.1:c.*1404T>C	ENSP00000507143.1:n.*1404T>C
ENST00000684313.1:n.2733T>C
ENST00000684332.1:n.3374T>C
ENST00000684371.1:n.3407T>C
ENST00000684404.1:n.3344T>C
ENST00000684442.1:n.3301T>C
ENST00000684555.1:c.*1444T>C	ENSP00000507705.1:n.*1444T>C
ENST00000684571.1:c.3073T>C	ENSP00000506935.1:p.Cys1025Arg
ENST00000684593.1:c.*2937T>C	ENSP00000507005.1:n.*2937T>C
ENST00000684711.1:c.*1628T>C	ENSP00000506841.1:n.*1628T>C
ENST00000302539.9:c.3235T>C	ENSP00000303960.4:p.Cys1079Arg
ENST00000389817.8:c.3232T>C MANE Select	ENSP00000374467.4:p.Cys1078Arg
ENST00000642271.1:c.3229T>C	ENSP00000493749.1:p.Cys1077Arg
ENST00000642579.1:c.1316T>C
ENST00000642611.1:n.3186T>C
ENST00000642902.1:c.3014T>C
ENST00000643260.1:c.3232T>C	ENSP00000494450.1:p.Cys1078Arg
ENST00000643562.1:c.*1208T>C	ENSP00000496124.1:n.*1208T>C
ENST00000643925.1:c.1356T>C
ENST00000644447.1:c.1588T>C	ENSP00000496282.1:p.Cys530Arg
ENST00000644484.1:c.*1487T>C	ENSP00000493558.1:n.*1487T>C
ENST00000644542.1:c.*3036T>C	ENSP00000495532.1:n.*3036T>C
ENST00000644675.1:c.*1404T>C	ENSP00000494567.1:n.*1404T>C
ENST00000644757.1:c.*1517T>C	ENSP00000495085.1:n.*1517T>C
ENST00000644772.1:c.3298T>C	ENSP00000494321.1:p.Cys1100Arg
ENST00000645004.1:n.371T>C
ENST00000645076.1:c.2431T>C
ENST00000645417.1:c.398T>C
ENST00000645744.1:c.*1496T>C	ENSP00000494564.1:n.*1496T>C
ENST00000645760.1:c.3507T>C
ENST00000645884.1:c.*369T>C	ENSP00000495516.1:n.*369T>C
ENST00000646003.1:c.*1188T>C	ENSP00000495259.1:n.*1188T>C
ENST00000646207.1:c.*1699T>C	ENSP00000495025.1:n.*1699T>C
ENST00000646276.1:c.*1505T>C	ENSP00000496070.1:n.*1505T>C
ENST00000646592.1:c.2538T>C
ENST00000646902.1:c.3229T>C	ENSP00000494101.1:p.Cys1077Arg
ENST00000646993.1:c.*1628T>C	ENSP00000493720.1:n.*1628T>C
ENST00000647013.1:c.3238T>C	ENSP00000496741.1:n.3238T>C
ENST00000647015.1:c.2983T>C	ENSP00000495389.1:p.Cys995Arg
ENST00000647086.1:c.*2962T>C	ENSP00000493677.1:n.*2962T>C
ENST00000647158.1:c.*1373T>C	ENSP00000495744.1:n.*1373T>C
ENST00000302539.8:c.3235T>C	ENSP00000303960.4:p.Cys1079Arg
ENST00000389817.7:c.3232T>C	ENSP00000374467.3:p.Cys1078Arg
ENST00000524561.1:n.364T>C
ENST00000526921.5:n.916T>C
ENST00000527905.5:c.*108T>C	ENSP00000431653.1:n.*108T>C
NM_000352.4:c.3232T>C	NP_000343.2:p.Cys1078Arg
NM_001287174.1:c.3235T>C	NP_001274103.1:p.Cys1079Arg
XM_011520331.1:c.3232T>C	XP_011518633.1:p.Cys1078Arg
XM_011520332.1:c.3235T>C	XP_011518634.1:p.Cys1079Arg
XM_011520333.1:c.1732T>C	XP_011518635.1:p.Cys578Arg
XR_930890.1:n.3298T>C
XR_930891.1:n.3298T>C
XR_930892.1:n.3198T>C
XR_930893.1:n.3195T>C
NM_001351295.1:c.3298T>C	NP_001338224.1:p.Cys1100Arg
NM_001351296.1:c.3232T>C	NP_001338225.1:p.Cys1078Arg
NM_001351297.1:c.3229T>C	NP_001338226.1:p.Cys1077Arg
NR_147094.1:n.3381T>C
XM_017018197.2:c.3301T>C	XP_016873686.1:p.Cys1101Arg
XM_017018199.1:c.3298T>C	XP_016873688.1:p.Cys1100Arg
XM_017018201.2:c.3301T>C	XP_016873690.1:p.Cys1101Arg
XM_017018202.1:c.1798T>C	XP_016873691.1:p.Cys600Arg
XM_017018204.1:c.1189T>C	XP_016873693.1:p.Cys397Arg
XM_024448668.1:c.1600T>C	XP_024304436.1:p.Cys534Arg
XR_001747945.2:n.3373T>C
XR_001747946.2:n.3304T>C
XR_002957189.1:n.3453T>C
NM_000352.6:c.3232T>C MANE Select	NP_000343.2:p.Cys1078Arg
NM_001287174.2:c.3235T>C	NP_001274103.1:p.Cys1079Arg
NM_001351295.2:c.3298T>C	NP_001338224.1:p.Cys1100Arg
NM_001351296.2:c.3232T>C	NP_001338225.1:p.Cys1078Arg
NM_001351297.2:c.3229T>C	NP_001338226.1:p.Cys1077Arg
NR_147094.2:n.3381T>C
NM_001287174.3:c.3235T>C	NP_001274103.1:p.Cys1079Arg