Canonical Allele Identifier: CA379803395

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428505T>A (hg19) ; chr11:g.17406958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406958T>A , CM000673.2:g.17406958T>A	GRCh38
NC_000011.9:g.17428505T>A , CM000673.1:g.17428505T>A	GRCh37
NC_000011.8:g.17385081T>A	NCBI36
NG_008867.1:g.74945A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2661A>T
ENST00000529967.6:n.1431A>T
ENST00000532220.2:n.824A>T
ENST00000642611.2:n.3161A>T
ENST00000645004.2:n.591A>T
ENST00000682051.1:n.3108A>T
ENST00000682110.1:n.3161A>T
ENST00000682140.1:c.3089A>T	ENSP00000507829.1:p.Tyr1030Phe
ENST00000682185.1:n.4397A>T
ENST00000682204.1:c.*1230A>T	ENSP00000507094.1:n.*1230A>T
ENST00000682215.1:n.3158A>T
ENST00000682288.1:c.*1523A>T	ENSP00000507506.1:n.*1523A>T
ENST00000682442.1:n.3282A>T
ENST00000682528.1:n.3238A>T
ENST00000682673.1:n.3105A>T
ENST00000682805.1:n.3158A>T
ENST00000682965.1:c.3089A>T	ENSP00000508229.1:p.Tyr1030Phe
ENST00000683093.1:n.3260A>T
ENST00000683136.1:c.3089A>T	ENSP00000507768.1:p.Tyr1030Phe
ENST00000683153.1:n.3317A>T
ENST00000683365.1:n.3263A>T
ENST00000683377.1:n.3161A>T
ENST00000683456.1:c.*229A>T	ENSP00000508318.1:n.*229A>T
ENST00000683522.1:n.3161A>T
ENST00000683562.1:c.*1261A>T	ENSP00000508265.1:n.*1261A>T
ENST00000683693.1:n.3238A>T
ENST00000683725.1:c.3092A>T	ENSP00000507496.1:p.Tyr1031Phe
ENST00000684010.1:n.3156A>T
ENST00000684157.1:n.3161A>T
ENST00000684253.1:n.3064A>T
ENST00000684288.1:c.*1264A>T	ENSP00000507143.1:n.*1264A>T
ENST00000684313.1:n.2593A>T
ENST00000684332.1:n.3234A>T
ENST00000684371.1:n.3267A>T
ENST00000684404.1:n.3204A>T
ENST00000684442.1:n.3161A>T
ENST00000684555.1:c.*1304A>T	ENSP00000507705.1:n.*1304A>T
ENST00000684571.1:c.2933A>T	ENSP00000506935.1:p.Tyr978Phe
ENST00000684593.1:c.*2797A>T	ENSP00000507005.1:n.*2797A>T
ENST00000684711.1:c.*1488A>T	ENSP00000506841.1:n.*1488A>T
ENST00000302539.9:c.3095A>T	ENSP00000303960.4:p.Tyr1032Phe
ENST00000389817.8:c.3092A>T MANE Select	ENSP00000374467.4:p.Tyr1031Phe
ENST00000642271.1:c.3089A>T	ENSP00000493749.1:p.Tyr1030Phe
ENST00000642579.1:c.1176A>T
ENST00000642611.1:n.3046A>T
ENST00000642902.1:c.2874A>T
ENST00000643260.1:c.3092A>T	ENSP00000494450.1:p.Tyr1031Phe
ENST00000643562.1:c.*1068A>T	ENSP00000496124.1:n.*1068A>T
ENST00000643925.1:c.1216A>T
ENST00000644447.1:c.1448A>T	ENSP00000496282.1:p.Tyr483Phe
ENST00000644484.1:c.*1347A>T	ENSP00000493558.1:n.*1347A>T
ENST00000644542.1:c.*2797A>T	ENSP00000495532.1:n.*2797A>T
ENST00000644675.1:c.*1264A>T	ENSP00000494567.1:n.*1264A>T
ENST00000644757.1:c.*1377A>T	ENSP00000495085.1:n.*1377A>T
ENST00000644772.1:c.3158A>T	ENSP00000494321.1:p.Tyr1053Phe
ENST00000645004.1:n.231A>T
ENST00000645076.1:c.2291A>T
ENST00000645417.1:c.258A>T
ENST00000645744.1:c.*1356A>T	ENSP00000494564.1:n.*1356A>T
ENST00000645760.1:c.3367A>T
ENST00000645884.1:c.*229A>T	ENSP00000495516.1:n.*229A>T
ENST00000646003.1:c.*1048A>T	ENSP00000495259.1:n.*1048A>T
ENST00000646207.1:c.*1559A>T	ENSP00000495025.1:n.*1559A>T
ENST00000646276.1:c.*1365A>T	ENSP00000496070.1:n.*1365A>T
ENST00000646592.1:c.2398A>T
ENST00000646902.1:c.3089A>T	ENSP00000494101.1:p.Tyr1030Phe
ENST00000646993.1:c.*1488A>T	ENSP00000493720.1:n.*1488A>T
ENST00000647013.1:c.3098A>T	ENSP00000496741.1:n.3098A>T
ENST00000647015.1:c.2843A>T	ENSP00000495389.1:p.Tyr948Phe
ENST00000647086.1:c.*2822A>T	ENSP00000493677.1:n.*2822A>T
ENST00000647158.1:c.*1233A>T	ENSP00000495744.1:n.*1233A>T
ENST00000302539.8:c.3095A>T	ENSP00000303960.4:p.Tyr1032Phe
ENST00000389817.7:c.3092A>T	ENSP00000374467.3:p.Tyr1031Phe
ENST00000524561.1:n.224A>T
ENST00000526921.5:n.776A>T
ENST00000527905.5:c.2962A>T	ENSP00000431653.1:p.Thr988Ser
ENST00000529967.5:n.761A>T
NM_000352.4:c.3092A>T	NP_000343.2:p.Tyr1031Phe
NM_001287174.1:c.3095A>T	NP_001274103.1:p.Tyr1032Phe
XM_011520331.1:c.3092A>T	XP_011518633.1:p.Tyr1031Phe
XM_011520332.1:c.3095A>T	XP_011518634.1:p.Tyr1032Phe
XM_011520333.1:c.1592A>T	XP_011518635.1:p.Tyr531Phe
XR_930890.1:n.3158A>T
XR_930891.1:n.3158A>T
XR_930892.1:n.3058A>T
XR_930893.1:n.3055A>T
NM_001351295.1:c.3158A>T	NP_001338224.1:p.Tyr1053Phe
NM_001351296.1:c.3092A>T	NP_001338225.1:p.Tyr1031Phe
NM_001351297.1:c.3089A>T	NP_001338226.1:p.Tyr1030Phe
NR_147094.1:n.3241A>T
XM_017018197.2:c.3161A>T	XP_016873686.1:p.Tyr1054Phe
XM_017018199.1:c.3158A>T	XP_016873688.1:p.Tyr1053Phe
XM_017018201.2:c.3161A>T	XP_016873690.1:p.Tyr1054Phe
XM_017018202.1:c.1658A>T	XP_016873691.1:p.Tyr553Phe
XM_017018204.1:c.1049A>T	XP_016873693.1:p.Tyr350Phe
XM_024448668.1:c.1460A>T	XP_024304436.1:p.Tyr487Phe
XR_001747945.2:n.3233A>T
XR_001747946.2:n.3164A>T
XR_002957189.1:n.3313A>T
NM_000352.6:c.3092A>T MANE Select	NP_000343.2:p.Tyr1031Phe
NM_001287174.2:c.3095A>T	NP_001274103.1:p.Tyr1032Phe
NM_001351295.2:c.3158A>T	NP_001338224.1:p.Tyr1053Phe
NM_001351296.2:c.3092A>T	NP_001338225.1:p.Tyr1031Phe
NM_001351297.2:c.3089A>T	NP_001338226.1:p.Tyr1030Phe
NR_147094.2:n.3241A>T
NM_001287174.3:c.3095A>T	NP_001274103.1:p.Tyr1032Phe