Canonical Allele Identifier: CA379798626

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426194C>A (hg19) ; chr11:g.17404647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404647C>A , CM000673.2:g.17404647C>A	GRCh38
NC_000011.9:g.17426194C>A , CM000673.1:g.17426194C>A	GRCh37
NC_000011.8:g.17382770C>A	NCBI36
NG_008867.1:g.77256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2991G>T
ENST00000528374.2:c.1G>T
ENST00000529967.6:n.1761G>T
ENST00000532220.2:n.1154G>T
ENST00000642611.2:n.3491G>T
ENST00000645004.2:n.921G>T
ENST00000682051.1:n.3438G>T
ENST00000682110.1:n.3491G>T
ENST00000682140.1:c.3419G>T	ENSP00000507829.1:p.Cys1140Phe
ENST00000682185.1:n.4727G>T
ENST00000682204.1:c.*1560G>T	ENSP00000507094.1:n.*1560G>T
ENST00000682215.1:n.3488G>T
ENST00000682288.1:c.*1853G>T	ENSP00000507506.1:n.*1853G>T
ENST00000682442.1:n.3711G>T
ENST00000682528.1:n.3568G>T
ENST00000682673.1:n.3435G>T
ENST00000682805.1:n.3488G>T
ENST00000682965.1:c.3396+847G>T	ENSP00000508229.1:n.3396+847G>T
ENST00000683093.1:n.3590G>T
ENST00000683136.1:c.3419G>T	ENSP00000507768.1:p.Cys1140Phe
ENST00000683153.1:n.3647G>T
ENST00000683365.1:n.3593G>T
ENST00000683377.1:n.3491G>T
ENST00000683456.1:c.*559G>T	ENSP00000508318.1:n.*559G>T
ENST00000683522.1:n.3491G>T
ENST00000683562.1:c.*1591G>T	ENSP00000508265.1:n.*1591G>T
ENST00000683693.1:n.3568G>T
ENST00000683725.1:c.3422G>T	ENSP00000507496.1:p.Cys1141Phe
ENST00000684010.1:n.3486G>T
ENST00000684157.1:n.3491G>T
ENST00000684253.1:n.3394G>T
ENST00000684288.1:c.*1594G>T	ENSP00000507143.1:n.*1594G>T
ENST00000684313.1:n.2923G>T
ENST00000684332.1:n.3564G>T
ENST00000684371.1:n.3597G>T
ENST00000684404.1:n.3534G>T
ENST00000684442.1:n.3491G>T
ENST00000684555.1:c.*1634G>T	ENSP00000507705.1:n.*1634G>T
ENST00000684571.1:c.3263G>T	ENSP00000506935.1:p.Cys1088Phe
ENST00000684593.1:c.*3127G>T	ENSP00000507005.1:n.*3127G>T
ENST00000684711.1:c.*1818G>T	ENSP00000506841.1:n.*1818G>T
ENST00000302539.9:c.3425G>T	ENSP00000303960.4:p.Cys1142Phe
ENST00000389817.8:c.3422G>T MANE Select	ENSP00000374467.4:p.Cys1141Phe
ENST00000642271.1:c.3419G>T	ENSP00000493749.1:p.Cys1140Phe
ENST00000642579.1:c.1506G>T
ENST00000642611.1:n.3376G>T
ENST00000642902.1:c.3204G>T
ENST00000643260.1:c.3422G>T	ENSP00000494450.1:p.Cys1141Phe
ENST00000643562.1:c.*1398G>T	ENSP00000496124.1:n.*1398G>T
ENST00000643925.1:c.1546G>T
ENST00000644447.1:c.1778G>T	ENSP00000496282.1:p.Cys593Phe
ENST00000644484.1:c.*1677G>T	ENSP00000493558.1:n.*1677G>T
ENST00000644675.1:c.*1594G>T	ENSP00000494567.1:n.*1594G>T
ENST00000644757.1:c.*1707G>T	ENSP00000495085.1:n.*1707G>T
ENST00000644772.1:c.3488G>T	ENSP00000494321.1:p.Cys1163Phe
ENST00000645004.1:n.561G>T
ENST00000645076.1:c.2621G>T
ENST00000645417.1:c.588G>T
ENST00000645744.1:c.*1686G>T	ENSP00000494564.1:n.*1686G>T
ENST00000645760.1:c.3697G>T
ENST00000645884.1:c.*559G>T	ENSP00000495516.1:n.*559G>T
ENST00000646003.1:c.*1378G>T	ENSP00000495259.1:n.*1378G>T
ENST00000646207.1:c.*1889G>T	ENSP00000495025.1:n.*1889G>T
ENST00000646276.1:c.*1695G>T	ENSP00000496070.1:n.*1695G>T
ENST00000646592.1:c.2728G>T
ENST00000646902.1:c.3419G>T	ENSP00000494101.1:p.Cys1140Phe
ENST00000646993.1:c.*1818G>T	ENSP00000493720.1:n.*1818G>T
ENST00000647013.1:c.3428G>T	ENSP00000496741.1:n.3428G>T
ENST00000647015.1:c.3173G>T	ENSP00000495389.1:p.Cys1058Phe
ENST00000647086.1:c.*3152G>T	ENSP00000493677.1:n.*3152G>T
ENST00000647158.1:c.*1563G>T	ENSP00000495744.1:n.*1563G>T
ENST00000302539.8:c.3425G>T	ENSP00000303960.4:p.Cys1142Phe
ENST00000389817.7:c.3422G>T	ENSP00000374467.3:p.Cys1141Phe
ENST00000524561.1:n.554G>T
ENST00000527905.5:c.*298G>T	ENSP00000431653.1:n.*298G>T
NM_000352.4:c.3422G>T	NP_000343.2:p.Cys1141Phe
NM_001287174.1:c.3425G>T	NP_001274103.1:p.Cys1142Phe
XM_011520331.1:c.3422G>T	XP_011518633.1:p.Cys1141Phe
XM_011520332.1:c.3425G>T	XP_011518634.1:p.Cys1142Phe
XM_011520333.1:c.1922G>T	XP_011518635.1:p.Cys641Phe
XR_930890.1:n.3488G>T
XR_930892.1:n.3388G>T
XR_930893.1:n.3385G>T
NM_001351295.1:c.3488G>T	NP_001338224.1:p.Cys1163Phe
NM_001351296.1:c.3422G>T	NP_001338225.1:p.Cys1141Phe
NM_001351297.1:c.3419G>T	NP_001338226.1:p.Cys1140Phe
NR_147094.1:n.3571G>T
XM_017018197.2:c.3491G>T	XP_016873686.1:p.Cys1164Phe
XM_017018199.1:c.3488G>T	XP_016873688.1:p.Cys1163Phe
XM_017018201.2:c.3491G>T	XP_016873690.1:p.Cys1164Phe
XM_017018202.1:c.1988G>T	XP_016873691.1:p.Cys663Phe
XM_017018204.1:c.1379G>T	XP_016873693.1:p.Cys460Phe
XM_024448668.1:c.1790G>T	XP_024304436.1:p.Cys597Phe
XR_001747945.2:n.3563G>T
XR_001747946.2:n.3494G>T
XR_002957189.1:n.3643G>T
NM_000352.6:c.3422G>T MANE Select	NP_000343.2:p.Cys1141Phe
NM_001287174.2:c.3425G>T	NP_001274103.1:p.Cys1142Phe
NM_001351295.2:c.3488G>T	NP_001338224.1:p.Cys1163Phe
NM_001351296.2:c.3422G>T	NP_001338225.1:p.Cys1141Phe
NM_001351297.2:c.3419G>T	NP_001338226.1:p.Cys1140Phe
NR_147094.2:n.3571G>T
NM_001287174.3:c.3425G>T	NP_001274103.1:p.Cys1142Phe