Canonical Allele Identifier: CA379803424

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428508T>G (hg19) ; chr11:g.17406961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406961T>G , CM000673.2:g.17406961T>G	GRCh38
NC_000011.9:g.17428508T>G , CM000673.1:g.17428508T>G	GRCh37
NC_000011.8:g.17385084T>G	NCBI36
NG_008867.1:g.74942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2658A>C
ENST00000529967.6:n.1428A>C
ENST00000532220.2:n.821A>C
ENST00000642611.2:n.3158A>C
ENST00000645004.2:n.588A>C
ENST00000682051.1:n.3105A>C
ENST00000682110.1:n.3158A>C
ENST00000682140.1:c.3086A>C	ENSP00000507829.1:p.Asp1029Ala
ENST00000682185.1:n.4394A>C
ENST00000682204.1:c.*1227A>C	ENSP00000507094.1:n.*1227A>C
ENST00000682215.1:n.3155A>C
ENST00000682288.1:c.*1520A>C	ENSP00000507506.1:n.*1520A>C
ENST00000682442.1:n.3279A>C
ENST00000682528.1:n.3235A>C
ENST00000682673.1:n.3102A>C
ENST00000682805.1:n.3155A>C
ENST00000682965.1:c.3086A>C	ENSP00000508229.1:p.Asp1029Ala
ENST00000683093.1:n.3257A>C
ENST00000683136.1:c.3086A>C	ENSP00000507768.1:p.Asp1029Ala
ENST00000683153.1:n.3314A>C
ENST00000683365.1:n.3260A>C
ENST00000683377.1:n.3158A>C
ENST00000683456.1:c.*226A>C	ENSP00000508318.1:n.*226A>C
ENST00000683522.1:n.3158A>C
ENST00000683562.1:c.*1258A>C	ENSP00000508265.1:n.*1258A>C
ENST00000683693.1:n.3235A>C
ENST00000683725.1:c.3089A>C	ENSP00000507496.1:p.Asp1030Ala
ENST00000684010.1:n.3153A>C
ENST00000684157.1:n.3158A>C
ENST00000684253.1:n.3061A>C
ENST00000684288.1:c.*1261A>C	ENSP00000507143.1:n.*1261A>C
ENST00000684313.1:n.2590A>C
ENST00000684332.1:n.3231A>C
ENST00000684371.1:n.3264A>C
ENST00000684404.1:n.3201A>C
ENST00000684442.1:n.3158A>C
ENST00000684555.1:c.*1301A>C	ENSP00000507705.1:n.*1301A>C
ENST00000684571.1:c.2930A>C	ENSP00000506935.1:p.Asp977Ala
ENST00000684593.1:c.*2794A>C	ENSP00000507005.1:n.*2794A>C
ENST00000684711.1:c.*1485A>C	ENSP00000506841.1:n.*1485A>C
ENST00000302539.9:c.3092A>C	ENSP00000303960.4:p.Asp1031Ala
ENST00000389817.8:c.3089A>C MANE Select	ENSP00000374467.4:p.Asp1030Ala
ENST00000642271.1:c.3086A>C	ENSP00000493749.1:p.Asp1029Ala
ENST00000642579.1:c.1173A>C
ENST00000642611.1:n.3043A>C
ENST00000642902.1:c.2871A>C
ENST00000643260.1:c.3089A>C	ENSP00000494450.1:p.Asp1030Ala
ENST00000643562.1:c.*1065A>C	ENSP00000496124.1:n.*1065A>C
ENST00000643925.1:c.1213A>C
ENST00000644447.1:c.1445A>C	ENSP00000496282.1:p.Asp482Ala
ENST00000644484.1:c.*1344A>C	ENSP00000493558.1:n.*1344A>C
ENST00000644542.1:c.*2794A>C	ENSP00000495532.1:n.*2794A>C
ENST00000644675.1:c.*1261A>C	ENSP00000494567.1:n.*1261A>C
ENST00000644757.1:c.*1374A>C	ENSP00000495085.1:n.*1374A>C
ENST00000644772.1:c.3155A>C	ENSP00000494321.1:p.Asp1052Ala
ENST00000645004.1:n.228A>C
ENST00000645076.1:c.2288A>C
ENST00000645417.1:c.255A>C
ENST00000645744.1:c.*1353A>C	ENSP00000494564.1:n.*1353A>C
ENST00000645760.1:c.3364A>C
ENST00000645884.1:c.*226A>C	ENSP00000495516.1:n.*226A>C
ENST00000646003.1:c.*1045A>C	ENSP00000495259.1:n.*1045A>C
ENST00000646207.1:c.*1556A>C	ENSP00000495025.1:n.*1556A>C
ENST00000646276.1:c.*1362A>C	ENSP00000496070.1:n.*1362A>C
ENST00000646592.1:c.2395A>C
ENST00000646902.1:c.3086A>C	ENSP00000494101.1:p.Asp1029Ala
ENST00000646993.1:c.*1485A>C	ENSP00000493720.1:n.*1485A>C
ENST00000647013.1:c.3095A>C	ENSP00000496741.1:n.3095A>C
ENST00000647015.1:c.2840A>C	ENSP00000495389.1:p.Asp947Ala
ENST00000647086.1:c.*2819A>C	ENSP00000493677.1:n.*2819A>C
ENST00000647158.1:c.*1230A>C	ENSP00000495744.1:n.*1230A>C
ENST00000302539.8:c.3092A>C	ENSP00000303960.4:p.Asp1031Ala
ENST00000389817.7:c.3089A>C	ENSP00000374467.3:p.Asp1030Ala
ENST00000524561.1:n.221A>C
ENST00000526921.5:n.773A>C
ENST00000527905.5:c.2959A>C	ENSP00000431653.1:p.Thr987Pro
ENST00000529967.5:n.758A>C
NM_000352.4:c.3089A>C	NP_000343.2:p.Asp1030Ala
NM_001287174.1:c.3092A>C	NP_001274103.1:p.Asp1031Ala
XM_011520331.1:c.3089A>C	XP_011518633.1:p.Asp1030Ala
XM_011520332.1:c.3092A>C	XP_011518634.1:p.Asp1031Ala
XM_011520333.1:c.1589A>C	XP_011518635.1:p.Asp530Ala
XR_930890.1:n.3155A>C
XR_930891.1:n.3155A>C
XR_930892.1:n.3055A>C
XR_930893.1:n.3052A>C
NM_001351295.1:c.3155A>C	NP_001338224.1:p.Asp1052Ala
NM_001351296.1:c.3089A>C	NP_001338225.1:p.Asp1030Ala
NM_001351297.1:c.3086A>C	NP_001338226.1:p.Asp1029Ala
NR_147094.1:n.3238A>C
XM_017018197.2:c.3158A>C	XP_016873686.1:p.Asp1053Ala
XM_017018199.1:c.3155A>C	XP_016873688.1:p.Asp1052Ala
XM_017018201.2:c.3158A>C	XP_016873690.1:p.Asp1053Ala
XM_017018202.1:c.1655A>C	XP_016873691.1:p.Asp552Ala
XM_017018204.1:c.1046A>C	XP_016873693.1:p.Asp349Ala
XM_024448668.1:c.1457A>C	XP_024304436.1:p.Asp486Ala
XR_001747945.2:n.3230A>C
XR_001747946.2:n.3161A>C
XR_002957189.1:n.3310A>C
NM_000352.6:c.3089A>C MANE Select	NP_000343.2:p.Asp1030Ala
NM_001287174.2:c.3092A>C	NP_001274103.1:p.Asp1031Ala
NM_001351295.2:c.3155A>C	NP_001338224.1:p.Asp1052Ala
NM_001351296.2:c.3089A>C	NP_001338225.1:p.Asp1030Ala
NM_001351297.2:c.3086A>C	NP_001338226.1:p.Asp1029Ala
NR_147094.2:n.3238A>C
NM_001287174.3:c.3092A>C	NP_001274103.1:p.Asp1031Ala