Canonical Allele Identifier: CA379803360

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428502C>A (hg19) ; chr11:g.17406955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406955C>A , CM000673.2:g.17406955C>A	GRCh38
NC_000011.9:g.17428502C>A , CM000673.1:g.17428502C>A	GRCh37
NC_000011.8:g.17385078C>A	NCBI36
NG_008867.1:g.74948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2664G>T
ENST00000529967.6:n.1434G>T
ENST00000532220.2:n.827G>T
ENST00000642611.2:n.3164G>T
ENST00000645004.2:n.594G>T
ENST00000682051.1:n.3111G>T
ENST00000682110.1:n.3164G>T
ENST00000682140.1:c.3092G>T	ENSP00000507829.1:p.Trp1031Leu
ENST00000682185.1:n.4400G>T
ENST00000682204.1:c.*1233G>T	ENSP00000507094.1:n.*1233G>T
ENST00000682215.1:n.3161G>T
ENST00000682288.1:c.*1526G>T	ENSP00000507506.1:n.*1526G>T
ENST00000682442.1:n.3285G>T
ENST00000682528.1:n.3241G>T
ENST00000682673.1:n.3108G>T
ENST00000682805.1:n.3161G>T
ENST00000682965.1:c.3092G>T	ENSP00000508229.1:p.Trp1031Leu
ENST00000683093.1:n.3263G>T
ENST00000683136.1:c.3092G>T	ENSP00000507768.1:p.Trp1031Leu
ENST00000683153.1:n.3320G>T
ENST00000683365.1:n.3266G>T
ENST00000683377.1:n.3164G>T
ENST00000683456.1:c.*232G>T	ENSP00000508318.1:n.*232G>T
ENST00000683522.1:n.3164G>T
ENST00000683562.1:c.*1264G>T	ENSP00000508265.1:n.*1264G>T
ENST00000683693.1:n.3241G>T
ENST00000683725.1:c.3095G>T	ENSP00000507496.1:p.Trp1032Leu
ENST00000684010.1:n.3159G>T
ENST00000684157.1:n.3164G>T
ENST00000684253.1:n.3067G>T
ENST00000684288.1:c.*1267G>T	ENSP00000507143.1:n.*1267G>T
ENST00000684313.1:n.2596G>T
ENST00000684332.1:n.3237G>T
ENST00000684371.1:n.3270G>T
ENST00000684404.1:n.3207G>T
ENST00000684442.1:n.3164G>T
ENST00000684555.1:c.*1307G>T	ENSP00000507705.1:n.*1307G>T
ENST00000684571.1:c.2936G>T	ENSP00000506935.1:p.Trp979Leu
ENST00000684593.1:c.*2800G>T	ENSP00000507005.1:n.*2800G>T
ENST00000684711.1:c.*1491G>T	ENSP00000506841.1:n.*1491G>T
ENST00000302539.9:c.3098G>T	ENSP00000303960.4:p.Trp1033Leu
ENST00000389817.8:c.3095G>T MANE Select	ENSP00000374467.4:p.Trp1032Leu
ENST00000642271.1:c.3092G>T	ENSP00000493749.1:p.Trp1031Leu
ENST00000642579.1:c.1179G>T
ENST00000642611.1:n.3049G>T
ENST00000642902.1:c.2877G>T
ENST00000643260.1:c.3095G>T	ENSP00000494450.1:p.Trp1032Leu
ENST00000643562.1:c.*1071G>T	ENSP00000496124.1:n.*1071G>T
ENST00000643925.1:c.1219G>T
ENST00000644447.1:c.1451G>T	ENSP00000496282.1:p.Trp484Leu
ENST00000644484.1:c.*1350G>T	ENSP00000493558.1:n.*1350G>T
ENST00000644542.1:c.*2800G>T	ENSP00000495532.1:n.*2800G>T
ENST00000644675.1:c.*1267G>T	ENSP00000494567.1:n.*1267G>T
ENST00000644757.1:c.*1380G>T	ENSP00000495085.1:n.*1380G>T
ENST00000644772.1:c.3161G>T	ENSP00000494321.1:p.Trp1054Leu
ENST00000645004.1:n.234G>T
ENST00000645076.1:c.2294G>T
ENST00000645417.1:c.261G>T
ENST00000645744.1:c.*1359G>T	ENSP00000494564.1:n.*1359G>T
ENST00000645760.1:c.3370G>T
ENST00000645884.1:c.*232G>T	ENSP00000495516.1:n.*232G>T
ENST00000646003.1:c.*1051G>T	ENSP00000495259.1:n.*1051G>T
ENST00000646207.1:c.*1562G>T	ENSP00000495025.1:n.*1562G>T
ENST00000646276.1:c.*1368G>T	ENSP00000496070.1:n.*1368G>T
ENST00000646592.1:c.2401G>T
ENST00000646902.1:c.3092G>T	ENSP00000494101.1:p.Trp1031Leu
ENST00000646993.1:c.*1491G>T	ENSP00000493720.1:n.*1491G>T
ENST00000647013.1:c.3101G>T	ENSP00000496741.1:n.3101G>T
ENST00000647015.1:c.2846G>T	ENSP00000495389.1:p.Trp949Leu
ENST00000647086.1:c.*2825G>T	ENSP00000493677.1:n.*2825G>T
ENST00000647158.1:c.*1236G>T	ENSP00000495744.1:n.*1236G>T
ENST00000302539.8:c.3098G>T	ENSP00000303960.4:p.Trp1033Leu
ENST00000389817.7:c.3095G>T	ENSP00000374467.3:p.Trp1032Leu
ENST00000524561.1:n.227G>T
ENST00000526921.5:n.779G>T
ENST00000527905.5:c.2965G>T	ENSP00000431653.1:p.Gly989Cys
ENST00000529967.5:n.764G>T
NM_000352.4:c.3095G>T	NP_000343.2:p.Trp1032Leu
NM_001287174.1:c.3098G>T	NP_001274103.1:p.Trp1033Leu
XM_011520331.1:c.3095G>T	XP_011518633.1:p.Trp1032Leu
XM_011520332.1:c.3098G>T	XP_011518634.1:p.Trp1033Leu
XM_011520333.1:c.1595G>T	XP_011518635.1:p.Trp532Leu
XR_930890.1:n.3161G>T
XR_930891.1:n.3161G>T
XR_930892.1:n.3061G>T
XR_930893.1:n.3058G>T
NM_001351295.1:c.3161G>T	NP_001338224.1:p.Trp1054Leu
NM_001351296.1:c.3095G>T	NP_001338225.1:p.Trp1032Leu
NM_001351297.1:c.3092G>T	NP_001338226.1:p.Trp1031Leu
NR_147094.1:n.3244G>T
XM_017018197.2:c.3164G>T	XP_016873686.1:p.Trp1055Leu
XM_017018199.1:c.3161G>T	XP_016873688.1:p.Trp1054Leu
XM_017018201.2:c.3164G>T	XP_016873690.1:p.Trp1055Leu
XM_017018202.1:c.1661G>T	XP_016873691.1:p.Trp554Leu
XM_017018204.1:c.1052G>T	XP_016873693.1:p.Trp351Leu
XM_024448668.1:c.1463G>T	XP_024304436.1:p.Trp488Leu
XR_001747945.2:n.3236G>T
XR_001747946.2:n.3167G>T
XR_002957189.1:n.3316G>T
NM_000352.6:c.3095G>T MANE Select	NP_000343.2:p.Trp1032Leu
NM_001287174.2:c.3098G>T	NP_001274103.1:p.Trp1033Leu
NM_001351295.2:c.3161G>T	NP_001338224.1:p.Trp1054Leu
NM_001351296.2:c.3095G>T	NP_001338225.1:p.Trp1032Leu
NM_001351297.2:c.3092G>T	NP_001338226.1:p.Trp1031Leu
NR_147094.2:n.3244G>T
NM_001287174.3:c.3098G>T	NP_001274103.1:p.Trp1033Leu