Canonical Allele Identifier: CA379803031

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428335C>G (hg19) ; chr11:g.17406788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406788C>G , CM000673.2:g.17406788C>G	GRCh38
NC_000011.9:g.17428335C>G , CM000673.1:g.17428335C>G	GRCh37
NC_000011.8:g.17384911C>G	NCBI36
NG_008867.1:g.75115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2732G>C
ENST00000529967.6:n.1502G>C
ENST00000532220.2:n.895G>C
ENST00000642611.2:n.3232G>C
ENST00000645004.2:n.662G>C
ENST00000682051.1:n.3179G>C
ENST00000682110.1:n.3232G>C
ENST00000682140.1:c.3160G>C	ENSP00000507829.1:p.Glu1054Gln
ENST00000682185.1:n.4468G>C
ENST00000682204.1:c.*1301G>C	ENSP00000507094.1:n.*1301G>C
ENST00000682215.1:n.3229G>C
ENST00000682288.1:c.*1594G>C	ENSP00000507506.1:n.*1594G>C
ENST00000682442.1:n.3452G>C
ENST00000682528.1:n.3309G>C
ENST00000682673.1:n.3176G>C
ENST00000682805.1:n.3229G>C
ENST00000682965.1:c.3160G>C	ENSP00000508229.1:p.Glu1054Gln
ENST00000683093.1:n.3331G>C
ENST00000683136.1:c.3160G>C	ENSP00000507768.1:p.Glu1054Gln
ENST00000683153.1:n.3388G>C
ENST00000683365.1:n.3334G>C
ENST00000683377.1:n.3232G>C
ENST00000683456.1:c.*300G>C	ENSP00000508318.1:n.*300G>C
ENST00000683522.1:n.3232G>C
ENST00000683562.1:c.*1332G>C	ENSP00000508265.1:n.*1332G>C
ENST00000683693.1:n.3309G>C
ENST00000683725.1:c.3163G>C	ENSP00000507496.1:p.Glu1055Gln
ENST00000684010.1:n.3227G>C
ENST00000684157.1:n.3232G>C
ENST00000684253.1:n.3135G>C
ENST00000684288.1:c.*1335G>C	ENSP00000507143.1:n.*1335G>C
ENST00000684313.1:n.2664G>C
ENST00000684332.1:n.3305G>C
ENST00000684371.1:n.3338G>C
ENST00000684404.1:n.3275G>C
ENST00000684442.1:n.3232G>C
ENST00000684555.1:c.*1375G>C	ENSP00000507705.1:n.*1375G>C
ENST00000684571.1:c.3004G>C	ENSP00000506935.1:p.Glu1002Gln
ENST00000684593.1:c.*2868G>C	ENSP00000507005.1:n.*2868G>C
ENST00000684711.1:c.*1559G>C	ENSP00000506841.1:n.*1559G>C
ENST00000302539.9:c.3166G>C	ENSP00000303960.4:p.Glu1056Gln
ENST00000389817.8:c.3163G>C MANE Select	ENSP00000374467.4:p.Glu1055Gln
ENST00000642271.1:c.3160G>C	ENSP00000493749.1:p.Glu1054Gln
ENST00000642579.1:c.1247G>C
ENST00000642611.1:n.3117G>C
ENST00000642902.1:c.2945G>C
ENST00000643260.1:c.3163G>C	ENSP00000494450.1:p.Glu1055Gln
ENST00000643562.1:c.*1139G>C	ENSP00000496124.1:n.*1139G>C
ENST00000643925.1:c.1287G>C
ENST00000644447.1:c.1519G>C	ENSP00000496282.1:p.Glu507Gln
ENST00000644484.1:c.*1418G>C	ENSP00000493558.1:n.*1418G>C
ENST00000644542.1:c.*2967G>C	ENSP00000495532.1:n.*2967G>C
ENST00000644675.1:c.*1335G>C	ENSP00000494567.1:n.*1335G>C
ENST00000644757.1:c.*1448G>C	ENSP00000495085.1:n.*1448G>C
ENST00000644772.1:c.3229G>C	ENSP00000494321.1:p.Glu1077Gln
ENST00000645004.1:n.302G>C
ENST00000645076.1:c.2362G>C
ENST00000645417.1:c.329G>C
ENST00000645744.1:c.*1427G>C	ENSP00000494564.1:n.*1427G>C
ENST00000645760.1:c.3438G>C
ENST00000645884.1:c.*300G>C	ENSP00000495516.1:n.*300G>C
ENST00000646003.1:c.*1119G>C	ENSP00000495259.1:n.*1119G>C
ENST00000646207.1:c.*1630G>C	ENSP00000495025.1:n.*1630G>C
ENST00000646276.1:c.*1436G>C	ENSP00000496070.1:n.*1436G>C
ENST00000646592.1:c.2469G>C
ENST00000646902.1:c.3160G>C	ENSP00000494101.1:p.Glu1054Gln
ENST00000646993.1:c.*1559G>C	ENSP00000493720.1:n.*1559G>C
ENST00000647013.1:c.3169G>C	ENSP00000496741.1:n.3169G>C
ENST00000647015.1:c.2914G>C	ENSP00000495389.1:p.Glu972Gln
ENST00000647086.1:c.*2893G>C	ENSP00000493677.1:n.*2893G>C
ENST00000647158.1:c.*1304G>C	ENSP00000495744.1:n.*1304G>C
ENST00000302539.8:c.3166G>C	ENSP00000303960.4:p.Glu1056Gln
ENST00000389817.7:c.3163G>C	ENSP00000374467.3:p.Glu1055Gln
ENST00000524561.1:n.295G>C
ENST00000526921.5:n.847G>C
ENST00000527905.5:c.*39G>C	ENSP00000431653.1:n.*39G>C
NM_000352.4:c.3163G>C	NP_000343.2:p.Glu1055Gln
NM_001287174.1:c.3166G>C	NP_001274103.1:p.Glu1056Gln
XM_011520331.1:c.3163G>C	XP_011518633.1:p.Glu1055Gln
XM_011520332.1:c.3166G>C	XP_011518634.1:p.Glu1056Gln
XM_011520333.1:c.1663G>C	XP_011518635.1:p.Glu555Gln
XR_930890.1:n.3229G>C
XR_930891.1:n.3229G>C
XR_930892.1:n.3129G>C
XR_930893.1:n.3126G>C
NM_001351295.1:c.3229G>C	NP_001338224.1:p.Glu1077Gln
NM_001351296.1:c.3163G>C	NP_001338225.1:p.Glu1055Gln
NM_001351297.1:c.3160G>C	NP_001338226.1:p.Glu1054Gln
NR_147094.1:n.3312G>C
XM_017018197.2:c.3232G>C	XP_016873686.1:p.Glu1078Gln
XM_017018199.1:c.3229G>C	XP_016873688.1:p.Glu1077Gln
XM_017018201.2:c.3232G>C	XP_016873690.1:p.Glu1078Gln
XM_017018202.1:c.1729G>C	XP_016873691.1:p.Glu577Gln
XM_017018204.1:c.1120G>C	XP_016873693.1:p.Glu374Gln
XM_024448668.1:c.1531G>C	XP_024304436.1:p.Glu511Gln
XR_001747945.2:n.3304G>C
XR_001747946.2:n.3235G>C
XR_002957189.1:n.3384G>C
NM_000352.6:c.3163G>C MANE Select	NP_000343.2:p.Glu1055Gln
NM_001287174.2:c.3166G>C	NP_001274103.1:p.Glu1056Gln
NM_001351295.2:c.3229G>C	NP_001338224.1:p.Glu1077Gln
NM_001351296.2:c.3163G>C	NP_001338225.1:p.Glu1055Gln
NM_001351297.2:c.3160G>C	NP_001338226.1:p.Glu1054Gln
NR_147094.2:n.3312G>C
NM_001287174.3:c.3166G>C	NP_001274103.1:p.Glu1056Gln