Canonical Allele Identifier: CA379791042

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418563T>A (hg19) ; chr11:g.17397016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397016T>A , CM000673.2:g.17397016T>A	GRCh38
NC_000011.9:g.17418563T>A , CM000673.1:g.17418563T>A	GRCh37
NC_000011.8:g.17375139T>A	NCBI36
NG_008867.1:g.84887A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3620A>T
ENST00000528374.2:c.610A>T
ENST00000529967.6:n.2358A>T
ENST00000532220.2:n.2267A>T
ENST00000642611.2:n.4234A>T
ENST00000644057.2:n.462A>T
ENST00000645004.2:n.1518A>T
ENST00000682051.1:n.4181A>T
ENST00000682110.1:n.4234A>T
ENST00000682140.1:c.3985+177A>T	ENSP00000507829.1:n.3985+177A>T
ENST00000682185.1:n.5324A>T
ENST00000682204.1:c.*2157A>T	ENSP00000507094.1:n.*2157A>T
ENST00000682215.1:n.4601A>T
ENST00000682288.1:c.*2450A>T	ENSP00000507506.1:n.*2450A>T
ENST00000682442.1:n.4454A>T
ENST00000682528.1:n.4311A>T
ENST00000682673.1:n.4178A>T
ENST00000682805.1:n.4601A>T
ENST00000682965.1:c.*441A>T	ENSP00000508229.1:n.*441A>T
ENST00000683093.1:n.4333A>T
ENST00000683136.1:c.3902A>T	ENSP00000507768.1:p.Asp1301Val
ENST00000683153.1:n.4276A>T
ENST00000683365.1:n.4336A>T
ENST00000683377.1:n.4234A>T
ENST00000683456.1:c.*1156A>T	ENSP00000508318.1:n.*1156A>T
ENST00000683522.1:n.4234A>T
ENST00000683562.1:c.*2188A>T	ENSP00000508265.1:n.*2188A>T
ENST00000683693.1:n.4681A>T
ENST00000683725.1:c.4019A>T	ENSP00000507496.1:p.Asp1340Val
ENST00000684010.1:n.4229A>T
ENST00000684157.1:n.4234A>T
ENST00000684253.1:n.4137A>T
ENST00000684288.1:c.*2191A>T	ENSP00000507143.1:n.*2191A>T
ENST00000684313.1:n.3666A>T
ENST00000684332.1:n.4307A>T
ENST00000684371.1:n.4340A>T
ENST00000684404.1:n.4277A>T
ENST00000684442.1:n.4458A>T
ENST00000684555.1:c.*2231A>T	ENSP00000507705.1:n.*2231A>T
ENST00000684571.1:c.3860A>T	ENSP00000506935.1:p.Asp1287Val
ENST00000684593.1:c.*3724A>T	ENSP00000507005.1:n.*3724A>T
ENST00000684711.1:c.*2415A>T	ENSP00000506841.1:n.*2415A>T
ENST00000302539.9:c.4022A>T	ENSP00000303960.4:p.Asp1341Val
ENST00000389817.8:c.4019A>T MANE Select	ENSP00000374467.4:p.Asp1340Val
ENST00000642271.1:c.4016A>T	ENSP00000493749.1:p.Asp1339Val
ENST00000642579.1:c.2073A>T
ENST00000642611.1:n.4119A>T
ENST00000642902.1:c.3801A>T
ENST00000643260.1:c.4019A>T	ENSP00000494450.1:p.Asp1340Val
ENST00000643562.1:c.*2141A>T	ENSP00000496124.1:n.*2141A>T
ENST00000643925.1:c.2659A>T
ENST00000644057.1:n.96A>T
ENST00000644484.1:c.*2420A>T	ENSP00000493558.1:n.*2420A>T
ENST00000644675.1:c.*2191A>T	ENSP00000494567.1:n.*2191A>T
ENST00000644757.1:c.*2450A>T	ENSP00000495085.1:n.*2450A>T
ENST00000644772.1:c.4085A>T	ENSP00000494321.1:p.Asp1362Val
ENST00000645004.1:n.1674A>T
ENST00000645076.1:c.3218A>T
ENST00000645417.1:c.1207A>T
ENST00000645744.1:c.*2799A>T	ENSP00000494564.1:n.*2799A>T
ENST00000645760.1:c.4440A>T
ENST00000645884.1:c.*1302A>T	ENSP00000495516.1:n.*1302A>T
ENST00000646003.1:c.*2121A>T	ENSP00000495259.1:n.*2121A>T
ENST00000646207.1:c.*2856A>T	ENSP00000495025.1:n.*2856A>T
ENST00000646276.1:c.*2438A>T	ENSP00000496070.1:n.*2438A>T
ENST00000646592.1:c.3325A>T
ENST00000646902.1:c.3986A>T	ENSP00000494101.1:p.Asp1329Val
ENST00000646993.1:c.*2561A>T	ENSP00000493720.1:n.*2561A>T
ENST00000647013.1:c.4025A>T	ENSP00000496741.1:n.4025A>T
ENST00000647015.1:c.3770A>T	ENSP00000495389.1:p.Asp1257Val
ENST00000647086.1:c.*3605A>T	ENSP00000493677.1:n.*3605A>T
ENST00000647158.1:c.*2306A>T	ENSP00000495744.1:n.*2306A>T
ENST00000302539.8:c.4022A>T	ENSP00000303960.4:p.Asp1341Val
ENST00000389817.7:c.4019A>T	ENSP00000374467.3:p.Asp1340Val
ENST00000527905.5:c.*1041A>T	ENSP00000431653.1:n.*1041A>T
ENST00000528374.1:c.501A>T
ENST00000531137.1:n.584A>T
ENST00000531891.1:c.357A>T
ENST00000532220.1:n.493A>T
NM_000352.4:c.4019A>T	NP_000343.2:p.Asp1340Val
NM_001287174.1:c.4022A>T	NP_001274103.1:p.Asp1341Val
XM_011520331.1:c.4019A>T	XP_011518633.1:p.Asp1340Val
XM_011520332.1:c.4022A>T	XP_011518634.1:p.Asp1341Val
XM_011520333.1:c.2519A>T	XP_011518635.1:p.Asp840Val
XR_930890.1:n.4085A>T
NM_001351295.1:c.4085A>T	NP_001338224.1:p.Asp1362Val
NM_001351296.1:c.4019A>T	NP_001338225.1:p.Asp1340Val
NM_001351297.1:c.4016A>T	NP_001338226.1:p.Asp1339Val
NR_147094.1:n.4314A>T
XM_017018197.2:c.4088A>T	XP_016873686.1:p.Asp1363Val
XM_017018199.1:c.4085A>T	XP_016873688.1:p.Asp1362Val
XM_017018201.2:c.4088A>T	XP_016873690.1:p.Asp1363Val
XM_017018202.1:c.2585A>T	XP_016873691.1:p.Asp862Val
XM_017018204.1:c.1976A>T	XP_016873693.1:p.Asp659Val
XM_024448668.1:c.2387A>T	XP_024304436.1:p.Asp796Val
XR_001747945.2:n.4160A>T
XR_001747946.2:n.4091A>T
XR_002957189.1:n.4756A>T
NM_000352.6:c.4019A>T MANE Select	NP_000343.2:p.Asp1340Val
NM_001287174.2:c.4022A>T	NP_001274103.1:p.Asp1341Val
NM_001351295.2:c.4085A>T	NP_001338224.1:p.Asp1362Val
NM_001351296.2:c.4019A>T	NP_001338225.1:p.Asp1340Val
NM_001351297.2:c.4016A>T	NP_001338226.1:p.Asp1339Val
NR_147094.2:n.4314A>T
NM_001287174.3:c.4022A>T	NP_001274103.1:p.Asp1341Val