Canonical Allele Identifier: CA473516023

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428333C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406786C>T , CM000673.2:g.17406786C>T	GRCh38
NC_000011.9:g.17428333C>T , CM000673.1:g.17428333C>T	GRCh37
NC_000011.8:g.17384909C>T	NCBI36
NG_008867.1:g.75117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2734G>A
ENST00000529967.6:n.1504G>A
ENST00000532220.2:n.897G>A
ENST00000642611.2:n.3234G>A
ENST00000645004.2:n.664G>A
ENST00000682051.1:n.3181G>A
ENST00000682110.1:n.3234G>A
ENST00000682140.1:c.3162G>A	ENSP00000507829.1:p.Glu1054=
ENST00000682185.1:n.4470G>A
ENST00000682204.1:c.*1303G>A	ENSP00000507094.1:n.*1303G>A
ENST00000682215.1:n.3231G>A
ENST00000682288.1:c.*1596G>A	ENSP00000507506.1:n.*1596G>A
ENST00000682442.1:n.3454G>A
ENST00000682528.1:n.3311G>A
ENST00000682673.1:n.3178G>A
ENST00000682805.1:n.3231G>A
ENST00000682965.1:c.3162G>A	ENSP00000508229.1:p.Glu1054=
ENST00000683093.1:n.3333G>A
ENST00000683136.1:c.3162G>A	ENSP00000507768.1:p.Glu1054=
ENST00000683153.1:n.3390G>A
ENST00000683365.1:n.3336G>A
ENST00000683377.1:n.3234G>A
ENST00000683456.1:c.*302G>A	ENSP00000508318.1:n.*302G>A
ENST00000683522.1:n.3234G>A
ENST00000683562.1:c.*1334G>A	ENSP00000508265.1:n.*1334G>A
ENST00000683693.1:n.3311G>A
ENST00000683725.1:c.3165G>A	ENSP00000507496.1:p.Glu1055=
ENST00000684010.1:n.3229G>A
ENST00000684157.1:n.3234G>A
ENST00000684253.1:n.3137G>A
ENST00000684288.1:c.*1337G>A	ENSP00000507143.1:n.*1337G>A
ENST00000684313.1:n.2666G>A
ENST00000684332.1:n.3307G>A
ENST00000684371.1:n.3340G>A
ENST00000684404.1:n.3277G>A
ENST00000684442.1:n.3234G>A
ENST00000684555.1:c.*1377G>A	ENSP00000507705.1:n.*1377G>A
ENST00000684571.1:c.3006G>A	ENSP00000506935.1:p.Glu1002=
ENST00000684593.1:c.*2870G>A	ENSP00000507005.1:n.*2870G>A
ENST00000684711.1:c.*1561G>A	ENSP00000506841.1:n.*1561G>A
ENST00000302539.9:c.3168G>A	ENSP00000303960.4:p.Glu1056=
ENST00000389817.8:c.3165G>A MANE Select	ENSP00000374467.4:p.Glu1055=
ENST00000642271.1:c.3162G>A	ENSP00000493749.1:p.Glu1054=
ENST00000642579.1:c.1249G>A
ENST00000642611.1:n.3119G>A
ENST00000642902.1:c.2947G>A
ENST00000643260.1:c.3165G>A	ENSP00000494450.1:p.Glu1055=
ENST00000643562.1:c.*1141G>A	ENSP00000496124.1:n.*1141G>A
ENST00000643925.1:c.1289G>A
ENST00000644447.1:c.1521G>A	ENSP00000496282.1:p.Glu507=
ENST00000644484.1:c.*1420G>A	ENSP00000493558.1:n.*1420G>A
ENST00000644542.1:c.*2969G>A	ENSP00000495532.1:n.*2969G>A
ENST00000644675.1:c.*1337G>A	ENSP00000494567.1:n.*1337G>A
ENST00000644757.1:c.*1450G>A	ENSP00000495085.1:n.*1450G>A
ENST00000644772.1:c.3231G>A	ENSP00000494321.1:p.Glu1077=
ENST00000645004.1:n.304G>A
ENST00000645076.1:c.2364G>A
ENST00000645417.1:c.331G>A
ENST00000645744.1:c.*1429G>A	ENSP00000494564.1:n.*1429G>A
ENST00000645760.1:c.3440G>A
ENST00000645884.1:c.*302G>A	ENSP00000495516.1:n.*302G>A
ENST00000646003.1:c.*1121G>A	ENSP00000495259.1:n.*1121G>A
ENST00000646207.1:c.*1632G>A	ENSP00000495025.1:n.*1632G>A
ENST00000646276.1:c.*1438G>A	ENSP00000496070.1:n.*1438G>A
ENST00000646592.1:c.2471G>A
ENST00000646902.1:c.3162G>A	ENSP00000494101.1:p.Glu1054=
ENST00000646993.1:c.*1561G>A	ENSP00000493720.1:n.*1561G>A
ENST00000647013.1:c.3171G>A	ENSP00000496741.1:n.3171G>A
ENST00000647015.1:c.2916G>A	ENSP00000495389.1:p.Glu972=
ENST00000647086.1:c.*2895G>A	ENSP00000493677.1:n.*2895G>A
ENST00000647158.1:c.*1306G>A	ENSP00000495744.1:n.*1306G>A
ENST00000302539.8:c.3168G>A	ENSP00000303960.4:p.Glu1056=
ENST00000389817.7:c.3165G>A	ENSP00000374467.3:p.Glu1055=
ENST00000524561.1:n.297G>A
ENST00000526921.5:n.849G>A
ENST00000527905.5:c.*41G>A	ENSP00000431653.1:n.*41G>A
NM_000352.4:c.3165G>A	NP_000343.2:p.Glu1055=
NM_001287174.1:c.3168G>A	NP_001274103.1:p.Glu1056=
XM_011520331.1:c.3165G>A	XP_011518633.1:p.Glu1055=
XM_011520332.1:c.3168G>A	XP_011518634.1:p.Glu1056=
XM_011520333.1:c.1665G>A	XP_011518635.1:p.Glu555=
XR_930890.1:n.3231G>A
XR_930891.1:n.3231G>A
XR_930892.1:n.3131G>A
XR_930893.1:n.3128G>A
NM_001351295.1:c.3231G>A	NP_001338224.1:p.Glu1077=
NM_001351296.1:c.3165G>A	NP_001338225.1:p.Glu1055=
NM_001351297.1:c.3162G>A	NP_001338226.1:p.Glu1054=
NR_147094.1:n.3314G>A
XM_017018197.2:c.3234G>A	XP_016873686.1:p.Glu1078=
XM_017018199.1:c.3231G>A	XP_016873688.1:p.Glu1077=
XM_017018201.2:c.3234G>A	XP_016873690.1:p.Glu1078=
XM_017018202.1:c.1731G>A	XP_016873691.1:p.Glu577=
XM_017018204.1:c.1122G>A	XP_016873693.1:p.Glu374=
XM_024448668.1:c.1533G>A	XP_024304436.1:p.Glu511=
XR_001747945.2:n.3306G>A
XR_001747946.2:n.3237G>A
XR_002957189.1:n.3386G>A
NM_000352.6:c.3165G>A MANE Select	NP_000343.2:p.Glu1055=
NM_001287174.2:c.3168G>A	NP_001274103.1:p.Glu1056=
NM_001351295.2:c.3231G>A	NP_001338224.1:p.Glu1077=
NM_001351296.2:c.3165G>A	NP_001338225.1:p.Glu1055=
NM_001351297.2:c.3162G>A	NP_001338226.1:p.Glu1054=
NR_147094.2:n.3314G>A
NM_001287174.3:c.3168G>A	NP_001274103.1:p.Glu1056=