Canonical Allele Identifier: CA379804409

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428673T>A (hg19) ; chr11:g.17407126T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407126T>A , CM000673.2:g.17407126T>A	GRCh38
NC_000011.9:g.17428673T>A , CM000673.1:g.17428673T>A	GRCh37
NC_000011.8:g.17385249T>A	NCBI36
NG_008867.1:g.74777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2493A>T
ENST00000529967.6:n.1263A>T
ENST00000532220.2:n.656A>T
ENST00000642611.2:n.2993A>T
ENST00000645004.2:n.423A>T
ENST00000682051.1:n.2940A>T
ENST00000682110.1:n.2993A>T
ENST00000682140.1:c.2921A>T	ENSP00000507829.1:p.Glu974Val
ENST00000682185.1:n.4229A>T
ENST00000682204.1:c.*1062A>T	ENSP00000507094.1:n.*1062A>T
ENST00000682215.1:n.2990A>T
ENST00000682288.1:c.*1355A>T	ENSP00000507506.1:n.*1355A>T
ENST00000682442.1:n.3114A>T
ENST00000682528.1:n.3070A>T
ENST00000682673.1:n.2937A>T
ENST00000682805.1:n.2990A>T
ENST00000682965.1:c.2921A>T	ENSP00000508229.1:p.Glu974Val
ENST00000683093.1:n.3092A>T
ENST00000683136.1:c.2921A>T	ENSP00000507768.1:p.Glu974Val
ENST00000683153.1:n.3149A>T
ENST00000683365.1:n.3095A>T
ENST00000683377.1:n.2993A>T
ENST00000683456.1:c.*61A>T	ENSP00000508318.1:n.*61A>T
ENST00000683522.1:n.2993A>T
ENST00000683562.1:c.*1093A>T	ENSP00000508265.1:n.*1093A>T
ENST00000683693.1:n.3070A>T
ENST00000683725.1:c.2924A>T	ENSP00000507496.1:p.Glu975Val
ENST00000684010.1:n.2988A>T
ENST00000684157.1:n.2993A>T
ENST00000684253.1:n.2896A>T
ENST00000684288.1:c.*1096A>T	ENSP00000507143.1:n.*1096A>T
ENST00000684313.1:n.2425A>T
ENST00000684332.1:n.3066A>T
ENST00000684371.1:n.3099A>T
ENST00000684404.1:n.3036A>T
ENST00000684442.1:n.2993A>T
ENST00000684555.1:c.*1136A>T	ENSP00000507705.1:n.*1136A>T
ENST00000684571.1:c.2765A>T	ENSP00000506935.1:p.Glu922Val
ENST00000684593.1:c.*2629A>T	ENSP00000507005.1:n.*2629A>T
ENST00000684711.1:c.*1320A>T	ENSP00000506841.1:n.*1320A>T
ENST00000302539.9:c.2927A>T	ENSP00000303960.4:p.Glu976Val
ENST00000389817.8:c.2924A>T MANE Select	ENSP00000374467.4:p.Glu975Val
ENST00000642271.1:c.2921A>T	ENSP00000493749.1:p.Glu974Val
ENST00000642579.1:c.1008A>T
ENST00000642611.1:n.2878A>T
ENST00000642902.1:c.2756-50A>T
ENST00000643260.1:c.2924A>T	ENSP00000494450.1:p.Glu975Val
ENST00000643562.1:c.*900A>T	ENSP00000496124.1:n.*900A>T
ENST00000643925.1:c.1048A>T
ENST00000644447.1:c.1280A>T	ENSP00000496282.1:p.Glu427Val
ENST00000644484.1:c.*1179A>T	ENSP00000493558.1:n.*1179A>T
ENST00000644542.1:c.*2629A>T	ENSP00000495532.1:n.*2629A>T
ENST00000644675.1:c.*1096A>T	ENSP00000494567.1:n.*1096A>T
ENST00000644757.1:c.*1209A>T	ENSP00000495085.1:n.*1209A>T
ENST00000644772.1:c.2990A>T	ENSP00000494321.1:p.Glu997Val
ENST00000645004.1:n.63A>T
ENST00000645076.1:c.2173-50A>T
ENST00000645417.1:c.90A>T
ENST00000645744.1:c.*1188A>T	ENSP00000494564.1:n.*1188A>T
ENST00000645760.1:c.3199A>T
ENST00000645884.1:c.*61A>T	ENSP00000495516.1:n.*61A>T
ENST00000646003.1:c.*880A>T	ENSP00000495259.1:n.*880A>T
ENST00000646207.1:c.*1391A>T	ENSP00000495025.1:n.*1391A>T
ENST00000646276.1:c.*1197A>T	ENSP00000496070.1:n.*1197A>T
ENST00000646592.1:c.2230A>T
ENST00000646902.1:c.2921A>T	ENSP00000494101.1:p.Glu974Val
ENST00000646993.1:c.*1320A>T	ENSP00000493720.1:n.*1320A>T
ENST00000647013.1:c.2930A>T	ENSP00000496741.1:n.2930A>T
ENST00000647015.1:c.2675A>T	ENSP00000495389.1:p.Glu892Val
ENST00000647086.1:c.*2654A>T	ENSP00000493677.1:n.*2654A>T
ENST00000647158.1:c.*1065A>T	ENSP00000495744.1:n.*1065A>T
ENST00000302539.8:c.2927A>T	ENSP00000303960.4:p.Glu976Val
ENST00000389817.7:c.2924A>T	ENSP00000374467.3:p.Glu975Val
ENST00000524561.1:n.56A>T
ENST00000526921.5:n.608A>T
ENST00000527905.5:c.2794A>T	ENSP00000431653.1:p.Arg932Trp
ENST00000529967.5:n.593A>T
NM_000352.4:c.2924A>T	NP_000343.2:p.Glu975Val
NM_001287174.1:c.2927A>T	NP_001274103.1:p.Glu976Val
XM_011520331.1:c.2924A>T	XP_011518633.1:p.Glu975Val
XM_011520332.1:c.2927A>T	XP_011518634.1:p.Glu976Val
XM_011520333.1:c.1424A>T	XP_011518635.1:p.Glu475Val
XR_930890.1:n.2990A>T
XR_930891.1:n.2990A>T
XR_930892.1:n.2890A>T
XR_930893.1:n.2887A>T
NM_001351295.1:c.2990A>T	NP_001338224.1:p.Glu997Val
NM_001351296.1:c.2924A>T	NP_001338225.1:p.Glu975Val
NM_001351297.1:c.2921A>T	NP_001338226.1:p.Glu974Val
NR_147094.1:n.3073A>T
XM_017018197.2:c.2993A>T	XP_016873686.1:p.Glu998Val
XM_017018199.1:c.2990A>T	XP_016873688.1:p.Glu997Val
XM_017018201.2:c.2993A>T	XP_016873690.1:p.Glu998Val
XM_017018202.1:c.1490A>T	XP_016873691.1:p.Glu497Val
XM_017018204.1:c.881A>T	XP_016873693.1:p.Glu294Val
XM_024448668.1:c.1292A>T	XP_024304436.1:p.Glu431Val
XR_001747945.2:n.3065A>T
XR_001747946.2:n.2996A>T
XR_002957189.1:n.3145A>T
NM_000352.6:c.2924A>T MANE Select	NP_000343.2:p.Glu975Val
NM_001287174.2:c.2927A>T	NP_001274103.1:p.Glu976Val
NM_001351295.2:c.2990A>T	NP_001338224.1:p.Glu997Val
NM_001351296.2:c.2924A>T	NP_001338225.1:p.Glu975Val
NM_001351297.2:c.2921A>T	NP_001338226.1:p.Glu974Val
NR_147094.2:n.3073A>T
NM_001287174.3:c.2927A>T	NP_001274103.1:p.Glu976Val