Canonical Allele Identifier: CA379798110

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426140A>C (hg19) ; chr11:g.17404593A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404593A>C , CM000673.2:g.17404593A>C	GRCh38
NC_000011.9:g.17426140A>C , CM000673.1:g.17426140A>C	GRCh37
NC_000011.8:g.17382716A>C	NCBI36
NG_008867.1:g.77310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3045T>G
ENST00000528374.2:c.55T>G
ENST00000529967.6:n.1815T>G
ENST00000532220.2:n.1208T>G
ENST00000642611.2:n.3545T>G
ENST00000645004.2:n.975T>G
ENST00000682051.1:n.3492T>G
ENST00000682110.1:n.3545T>G
ENST00000682140.1:c.3473T>G	ENSP00000507829.1:p.Val1158Gly
ENST00000682185.1:n.4781T>G
ENST00000682204.1:c.*1614T>G	ENSP00000507094.1:n.*1614T>G
ENST00000682215.1:n.3542T>G
ENST00000682288.1:c.*1907T>G	ENSP00000507506.1:n.*1907T>G
ENST00000682442.1:n.3765T>G
ENST00000682528.1:n.3622T>G
ENST00000682673.1:n.3489T>G
ENST00000682805.1:n.3542T>G
ENST00000682965.1:c.3396+901T>G	ENSP00000508229.1:n.3396+901T>G
ENST00000683093.1:n.3644T>G
ENST00000683136.1:c.3473T>G	ENSP00000507768.1:p.Val1158Gly
ENST00000683153.1:n.3701T>G
ENST00000683365.1:n.3647T>G
ENST00000683377.1:n.3545T>G
ENST00000683456.1:c.*613T>G	ENSP00000508318.1:n.*613T>G
ENST00000683522.1:n.3545T>G
ENST00000683562.1:c.*1645T>G	ENSP00000508265.1:n.*1645T>G
ENST00000683693.1:n.3622T>G
ENST00000683725.1:c.3476T>G	ENSP00000507496.1:p.Val1159Gly
ENST00000684010.1:n.3540T>G
ENST00000684157.1:n.3545T>G
ENST00000684253.1:n.3448T>G
ENST00000684288.1:c.*1648T>G	ENSP00000507143.1:n.*1648T>G
ENST00000684313.1:n.2977T>G
ENST00000684332.1:n.3618T>G
ENST00000684371.1:n.3651T>G
ENST00000684404.1:n.3588T>G
ENST00000684442.1:n.3545T>G
ENST00000684555.1:c.*1688T>G	ENSP00000507705.1:n.*1688T>G
ENST00000684571.1:c.3317T>G	ENSP00000506935.1:p.Val1106Gly
ENST00000684593.1:c.*3181T>G	ENSP00000507005.1:n.*3181T>G
ENST00000684711.1:c.*1872T>G	ENSP00000506841.1:n.*1872T>G
ENST00000302539.9:c.3479T>G	ENSP00000303960.4:p.Val1160Gly
ENST00000389817.8:c.3476T>G MANE Select	ENSP00000374467.4:p.Val1159Gly
ENST00000642271.1:c.3473T>G	ENSP00000493749.1:p.Val1158Gly
ENST00000642579.1:c.1560T>G
ENST00000642611.1:n.3430T>G
ENST00000642902.1:c.3258T>G
ENST00000643260.1:c.3476T>G	ENSP00000494450.1:p.Val1159Gly
ENST00000643562.1:c.*1452T>G	ENSP00000496124.1:n.*1452T>G
ENST00000643925.1:c.1600T>G
ENST00000644447.1:c.1832T>G	ENSP00000496282.1:p.Val611Gly
ENST00000644484.1:c.*1731T>G	ENSP00000493558.1:n.*1731T>G
ENST00000644675.1:c.*1648T>G	ENSP00000494567.1:n.*1648T>G
ENST00000644757.1:c.*1761T>G	ENSP00000495085.1:n.*1761T>G
ENST00000644772.1:c.3542T>G	ENSP00000494321.1:p.Val1181Gly
ENST00000645004.1:n.615T>G
ENST00000645076.1:c.2675T>G
ENST00000645417.1:c.642T>G
ENST00000645744.1:c.*1740T>G	ENSP00000494564.1:n.*1740T>G
ENST00000645760.1:c.3751T>G
ENST00000645884.1:c.*613T>G	ENSP00000495516.1:n.*613T>G
ENST00000646003.1:c.*1432T>G	ENSP00000495259.1:n.*1432T>G
ENST00000646207.1:c.*1943T>G	ENSP00000495025.1:n.*1943T>G
ENST00000646276.1:c.*1749T>G	ENSP00000496070.1:n.*1749T>G
ENST00000646592.1:c.2782T>G
ENST00000646902.1:c.3473T>G	ENSP00000494101.1:p.Val1158Gly
ENST00000646993.1:c.*1872T>G	ENSP00000493720.1:n.*1872T>G
ENST00000647013.1:c.3482T>G	ENSP00000496741.1:n.3482T>G
ENST00000647015.1:c.3227T>G	ENSP00000495389.1:p.Val1076Gly
ENST00000647086.1:c.*3206T>G	ENSP00000493677.1:n.*3206T>G
ENST00000647158.1:c.*1617T>G	ENSP00000495744.1:n.*1617T>G
ENST00000302539.8:c.3479T>G	ENSP00000303960.4:p.Val1160Gly
ENST00000389817.7:c.3476T>G	ENSP00000374467.3:p.Val1159Gly
ENST00000524561.1:n.608T>G
ENST00000527905.5:c.*352T>G	ENSP00000431653.1:n.*352T>G
NM_000352.4:c.3476T>G	NP_000343.2:p.Val1159Gly
NM_001287174.1:c.3479T>G	NP_001274103.1:p.Val1160Gly
XM_011520331.1:c.3476T>G	XP_011518633.1:p.Val1159Gly
XM_011520332.1:c.3479T>G	XP_011518634.1:p.Val1160Gly
XM_011520333.1:c.1976T>G	XP_011518635.1:p.Val659Gly
XR_930890.1:n.3542T>G
XR_930892.1:n.3442T>G
XR_930893.1:n.3439T>G
NM_001351295.1:c.3542T>G	NP_001338224.1:p.Val1181Gly
NM_001351296.1:c.3476T>G	NP_001338225.1:p.Val1159Gly
NM_001351297.1:c.3473T>G	NP_001338226.1:p.Val1158Gly
NR_147094.1:n.3625T>G
XM_017018197.2:c.3545T>G	XP_016873686.1:p.Val1182Gly
XM_017018199.1:c.3542T>G	XP_016873688.1:p.Val1181Gly
XM_017018201.2:c.3545T>G	XP_016873690.1:p.Val1182Gly
XM_017018202.1:c.2042T>G	XP_016873691.1:p.Val681Gly
XM_017018204.1:c.1433T>G	XP_016873693.1:p.Val478Gly
XM_024448668.1:c.1844T>G	XP_024304436.1:p.Val615Gly
XR_001747945.2:n.3617T>G
XR_001747946.2:n.3548T>G
XR_002957189.1:n.3697T>G
NM_000352.6:c.3476T>G MANE Select	NP_000343.2:p.Val1159Gly
NM_001287174.2:c.3479T>G	NP_001274103.1:p.Val1160Gly
NM_001351295.2:c.3542T>G	NP_001338224.1:p.Val1181Gly
NM_001351296.2:c.3476T>G	NP_001338225.1:p.Val1159Gly
NM_001351297.2:c.3473T>G	NP_001338226.1:p.Val1158Gly
NR_147094.2:n.3625T>G
NM_001287174.3:c.3479T>G	NP_001274103.1:p.Val1160Gly