Canonical Allele Identifier: CA379802787

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428259A>C (hg19) ; chr11:g.17406712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406712A>C , CM000673.2:g.17406712A>C	GRCh38
NC_000011.9:g.17428259A>C , CM000673.1:g.17428259A>C	GRCh37
NC_000011.8:g.17384835A>C	NCBI36
NG_008867.1:g.75191T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2808T>G
ENST00000529967.6:n.1578T>G
ENST00000532220.2:n.971T>G
ENST00000642611.2:n.3308T>G
ENST00000645004.2:n.738T>G
ENST00000682051.1:n.3255T>G
ENST00000682110.1:n.3308T>G
ENST00000682140.1:c.3236T>G	ENSP00000507829.1:p.Val1079Gly
ENST00000682185.1:n.4544T>G
ENST00000682204.1:c.*1377T>G	ENSP00000507094.1:n.*1377T>G
ENST00000682215.1:n.3305T>G
ENST00000682288.1:c.*1670T>G	ENSP00000507506.1:n.*1670T>G
ENST00000682442.1:n.3528T>G
ENST00000682528.1:n.3385T>G
ENST00000682673.1:n.3252T>G
ENST00000682805.1:n.3305T>G
ENST00000682965.1:c.3236T>G	ENSP00000508229.1:p.Val1079Gly
ENST00000683093.1:n.3407T>G
ENST00000683136.1:c.3236T>G	ENSP00000507768.1:p.Val1079Gly
ENST00000683153.1:n.3464T>G
ENST00000683365.1:n.3410T>G
ENST00000683377.1:n.3308T>G
ENST00000683456.1:c.*376T>G	ENSP00000508318.1:n.*376T>G
ENST00000683522.1:n.3308T>G
ENST00000683562.1:c.*1408T>G	ENSP00000508265.1:n.*1408T>G
ENST00000683693.1:n.3385T>G
ENST00000683725.1:c.3239T>G	ENSP00000507496.1:p.Val1080Gly
ENST00000684010.1:n.3303T>G
ENST00000684157.1:n.3308T>G
ENST00000684253.1:n.3211T>G
ENST00000684288.1:c.*1411T>G	ENSP00000507143.1:n.*1411T>G
ENST00000684313.1:n.2740T>G
ENST00000684332.1:n.3381T>G
ENST00000684371.1:n.3414T>G
ENST00000684404.1:n.3351T>G
ENST00000684442.1:n.3308T>G
ENST00000684555.1:c.*1451T>G	ENSP00000507705.1:n.*1451T>G
ENST00000684571.1:c.3080T>G	ENSP00000506935.1:p.Val1027Gly
ENST00000684593.1:c.*2944T>G	ENSP00000507005.1:n.*2944T>G
ENST00000684711.1:c.*1635T>G	ENSP00000506841.1:n.*1635T>G
ENST00000302539.9:c.3242T>G	ENSP00000303960.4:p.Val1081Gly
ENST00000389817.8:c.3239T>G MANE Select	ENSP00000374467.4:p.Val1080Gly
ENST00000642271.1:c.3236T>G	ENSP00000493749.1:p.Val1079Gly
ENST00000642579.1:c.1323T>G
ENST00000642611.1:n.3193T>G
ENST00000642902.1:c.3021T>G
ENST00000643260.1:c.3239T>G	ENSP00000494450.1:p.Val1080Gly
ENST00000643562.1:c.*1215T>G	ENSP00000496124.1:n.*1215T>G
ENST00000643925.1:c.1363T>G
ENST00000644447.1:c.1595T>G	ENSP00000496282.1:p.Val532Gly
ENST00000644484.1:c.*1494T>G	ENSP00000493558.1:n.*1494T>G
ENST00000644542.1:c.*3043T>G	ENSP00000495532.1:n.*3043T>G
ENST00000644675.1:c.*1411T>G	ENSP00000494567.1:n.*1411T>G
ENST00000644757.1:c.*1524T>G	ENSP00000495085.1:n.*1524T>G
ENST00000644772.1:c.3305T>G	ENSP00000494321.1:p.Val1102Gly
ENST00000645004.1:n.378T>G
ENST00000645076.1:c.2438T>G
ENST00000645417.1:c.405T>G
ENST00000645744.1:c.*1503T>G	ENSP00000494564.1:n.*1503T>G
ENST00000645760.1:c.3514T>G
ENST00000645884.1:c.*376T>G	ENSP00000495516.1:n.*376T>G
ENST00000646003.1:c.*1195T>G	ENSP00000495259.1:n.*1195T>G
ENST00000646207.1:c.*1706T>G	ENSP00000495025.1:n.*1706T>G
ENST00000646276.1:c.*1512T>G	ENSP00000496070.1:n.*1512T>G
ENST00000646592.1:c.2545T>G
ENST00000646902.1:c.3236T>G	ENSP00000494101.1:p.Val1079Gly
ENST00000646993.1:c.*1635T>G	ENSP00000493720.1:n.*1635T>G
ENST00000647013.1:c.3245T>G	ENSP00000496741.1:n.3245T>G
ENST00000647015.1:c.2990T>G	ENSP00000495389.1:p.Val997Gly
ENST00000647086.1:c.*2969T>G	ENSP00000493677.1:n.*2969T>G
ENST00000647158.1:c.*1380T>G	ENSP00000495744.1:n.*1380T>G
ENST00000302539.8:c.3242T>G	ENSP00000303960.4:p.Val1081Gly
ENST00000389817.7:c.3239T>G	ENSP00000374467.3:p.Val1080Gly
ENST00000524561.1:n.371T>G
ENST00000526921.5:n.923T>G
ENST00000527905.5:c.*115T>G	ENSP00000431653.1:n.*115T>G
NM_000352.4:c.3239T>G	NP_000343.2:p.Val1080Gly
NM_001287174.1:c.3242T>G	NP_001274103.1:p.Val1081Gly
XM_011520331.1:c.3239T>G	XP_011518633.1:p.Val1080Gly
XM_011520332.1:c.3242T>G	XP_011518634.1:p.Val1081Gly
XM_011520333.1:c.1739T>G	XP_011518635.1:p.Val580Gly
XR_930890.1:n.3305T>G
XR_930891.1:n.3305T>G
XR_930892.1:n.3205T>G
XR_930893.1:n.3202T>G
NM_001351295.1:c.3305T>G	NP_001338224.1:p.Val1102Gly
NM_001351296.1:c.3239T>G	NP_001338225.1:p.Val1080Gly
NM_001351297.1:c.3236T>G	NP_001338226.1:p.Val1079Gly
NR_147094.1:n.3388T>G
XM_017018197.2:c.3308T>G	XP_016873686.1:p.Val1103Gly
XM_017018199.1:c.3305T>G	XP_016873688.1:p.Val1102Gly
XM_017018201.2:c.3308T>G	XP_016873690.1:p.Val1103Gly
XM_017018202.1:c.1805T>G	XP_016873691.1:p.Val602Gly
XM_017018204.1:c.1196T>G	XP_016873693.1:p.Val399Gly
XM_024448668.1:c.1607T>G	XP_024304436.1:p.Val536Gly
XR_001747945.2:n.3380T>G
XR_001747946.2:n.3311T>G
XR_002957189.1:n.3460T>G
NM_000352.6:c.3239T>G MANE Select	NP_000343.2:p.Val1080Gly
NM_001287174.2:c.3242T>G	NP_001274103.1:p.Val1081Gly
NM_001351295.2:c.3305T>G	NP_001338224.1:p.Val1102Gly
NM_001351296.2:c.3239T>G	NP_001338225.1:p.Val1080Gly
NM_001351297.2:c.3236T>G	NP_001338226.1:p.Val1079Gly
NR_147094.2:n.3388T>G
NM_001287174.3:c.3242T>G	NP_001274103.1:p.Val1081Gly