Canonical Allele Identifier: CA379803343

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428501C>A (hg19) ; chr11:g.17406954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406954C>A , CM000673.2:g.17406954C>A	GRCh38
NC_000011.9:g.17428501C>A , CM000673.1:g.17428501C>A	GRCh37
NC_000011.8:g.17385077C>A	NCBI36
NG_008867.1:g.74949G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2665G>T
ENST00000529967.6:n.1435G>T
ENST00000532220.2:n.828G>T
ENST00000642611.2:n.3165G>T
ENST00000645004.2:n.595G>T
ENST00000682051.1:n.3112G>T
ENST00000682110.1:n.3165G>T
ENST00000682140.1:c.3093G>T	ENSP00000507829.1:p.Trp1031Cys
ENST00000682185.1:n.4401G>T
ENST00000682204.1:c.*1234G>T	ENSP00000507094.1:n.*1234G>T
ENST00000682215.1:n.3162G>T
ENST00000682288.1:c.*1527G>T	ENSP00000507506.1:n.*1527G>T
ENST00000682442.1:n.3286G>T
ENST00000682528.1:n.3242G>T
ENST00000682673.1:n.3109G>T
ENST00000682805.1:n.3162G>T
ENST00000682965.1:c.3093G>T	ENSP00000508229.1:p.Trp1031Cys
ENST00000683093.1:n.3264G>T
ENST00000683136.1:c.3093G>T	ENSP00000507768.1:p.Trp1031Cys
ENST00000683153.1:n.3321G>T
ENST00000683365.1:n.3267G>T
ENST00000683377.1:n.3165G>T
ENST00000683456.1:c.*233G>T	ENSP00000508318.1:n.*233G>T
ENST00000683522.1:n.3165G>T
ENST00000683562.1:c.*1265G>T	ENSP00000508265.1:n.*1265G>T
ENST00000683693.1:n.3242G>T
ENST00000683725.1:c.3096G>T	ENSP00000507496.1:p.Trp1032Cys
ENST00000684010.1:n.3160G>T
ENST00000684157.1:n.3165G>T
ENST00000684253.1:n.3068G>T
ENST00000684288.1:c.*1268G>T	ENSP00000507143.1:n.*1268G>T
ENST00000684313.1:n.2597G>T
ENST00000684332.1:n.3238G>T
ENST00000684371.1:n.3271G>T
ENST00000684404.1:n.3208G>T
ENST00000684442.1:n.3165G>T
ENST00000684555.1:c.*1308G>T	ENSP00000507705.1:n.*1308G>T
ENST00000684571.1:c.2937G>T	ENSP00000506935.1:p.Trp979Cys
ENST00000684593.1:c.*2801G>T	ENSP00000507005.1:n.*2801G>T
ENST00000684711.1:c.*1492G>T	ENSP00000506841.1:n.*1492G>T
ENST00000302539.9:c.3099G>T	ENSP00000303960.4:p.Trp1033Cys
ENST00000389817.8:c.3096G>T MANE Select	ENSP00000374467.4:p.Trp1032Cys
ENST00000642271.1:c.3093G>T	ENSP00000493749.1:p.Trp1031Cys
ENST00000642579.1:c.1180G>T
ENST00000642611.1:n.3050G>T
ENST00000642902.1:c.2878G>T
ENST00000643260.1:c.3096G>T	ENSP00000494450.1:p.Trp1032Cys
ENST00000643562.1:c.*1072G>T	ENSP00000496124.1:n.*1072G>T
ENST00000643925.1:c.1220G>T
ENST00000644447.1:c.1452G>T	ENSP00000496282.1:p.Trp484Cys
ENST00000644484.1:c.*1351G>T	ENSP00000493558.1:n.*1351G>T
ENST00000644542.1:c.*2801G>T	ENSP00000495532.1:n.*2801G>T
ENST00000644675.1:c.*1268G>T	ENSP00000494567.1:n.*1268G>T
ENST00000644757.1:c.*1381G>T	ENSP00000495085.1:n.*1381G>T
ENST00000644772.1:c.3162G>T	ENSP00000494321.1:p.Trp1054Cys
ENST00000645004.1:n.235G>T
ENST00000645076.1:c.2295G>T
ENST00000645417.1:c.262G>T
ENST00000645744.1:c.*1360G>T	ENSP00000494564.1:n.*1360G>T
ENST00000645760.1:c.3371G>T
ENST00000645884.1:c.*233G>T	ENSP00000495516.1:n.*233G>T
ENST00000646003.1:c.*1052G>T	ENSP00000495259.1:n.*1052G>T
ENST00000646207.1:c.*1563G>T	ENSP00000495025.1:n.*1563G>T
ENST00000646276.1:c.*1369G>T	ENSP00000496070.1:n.*1369G>T
ENST00000646592.1:c.2402G>T
ENST00000646902.1:c.3093G>T	ENSP00000494101.1:p.Trp1031Cys
ENST00000646993.1:c.*1492G>T	ENSP00000493720.1:n.*1492G>T
ENST00000647013.1:c.3102G>T	ENSP00000496741.1:n.3102G>T
ENST00000647015.1:c.2847G>T	ENSP00000495389.1:p.Trp949Cys
ENST00000647086.1:c.*2826G>T	ENSP00000493677.1:n.*2826G>T
ENST00000647158.1:c.*1237G>T	ENSP00000495744.1:n.*1237G>T
ENST00000302539.8:c.3099G>T	ENSP00000303960.4:p.Trp1033Cys
ENST00000389817.7:c.3096G>T	ENSP00000374467.3:p.Trp1032Cys
ENST00000524561.1:n.228G>T
ENST00000526921.5:n.780G>T
ENST00000527905.5:c.2966G>T	ENSP00000431653.1:p.Gly989Val
ENST00000529967.5:n.765G>T
NM_000352.4:c.3096G>T	NP_000343.2:p.Trp1032Cys
NM_001287174.1:c.3099G>T	NP_001274103.1:p.Trp1033Cys
XM_011520331.1:c.3096G>T	XP_011518633.1:p.Trp1032Cys
XM_011520332.1:c.3099G>T	XP_011518634.1:p.Trp1033Cys
XM_011520333.1:c.1596G>T	XP_011518635.1:p.Trp532Cys
XR_930890.1:n.3162G>T
XR_930891.1:n.3162G>T
XR_930892.1:n.3062G>T
XR_930893.1:n.3059G>T
NM_001351295.1:c.3162G>T	NP_001338224.1:p.Trp1054Cys
NM_001351296.1:c.3096G>T	NP_001338225.1:p.Trp1032Cys
NM_001351297.1:c.3093G>T	NP_001338226.1:p.Trp1031Cys
NR_147094.1:n.3245G>T
XM_017018197.2:c.3165G>T	XP_016873686.1:p.Trp1055Cys
XM_017018199.1:c.3162G>T	XP_016873688.1:p.Trp1054Cys
XM_017018201.2:c.3165G>T	XP_016873690.1:p.Trp1055Cys
XM_017018202.1:c.1662G>T	XP_016873691.1:p.Trp554Cys
XM_017018204.1:c.1053G>T	XP_016873693.1:p.Trp351Cys
XM_024448668.1:c.1464G>T	XP_024304436.1:p.Trp488Cys
XR_001747945.2:n.3237G>T
XR_001747946.2:n.3168G>T
XR_002957189.1:n.3317G>T
NM_000352.6:c.3096G>T MANE Select	NP_000343.2:p.Trp1032Cys
NM_001287174.2:c.3099G>T	NP_001274103.1:p.Trp1033Cys
NM_001351295.2:c.3162G>T	NP_001338224.1:p.Trp1054Cys
NM_001351296.2:c.3096G>T	NP_001338225.1:p.Trp1032Cys
NM_001351297.2:c.3093G>T	NP_001338226.1:p.Trp1031Cys
NR_147094.2:n.3245G>T
NM_001287174.3:c.3099G>T	NP_001274103.1:p.Trp1033Cys