Canonical Allele Identifier: CA379786502

Gene: ABCC8

Linked Data

• dbSNP Id: rs1591709652
• MyVariant Identifiers: chr11:g.17417184T>G (hg19) ; chr11:g.17395637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395637T>G , CM000673.2:g.17395637T>G	GRCh38
NC_000011.9:g.17417184T>G , CM000673.1:g.17417184T>G	GRCh37
NC_000011.8:g.17373760T>G	NCBI36
NG_008867.1:g.86266A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3881A>C
ENST00000528374.2:c.871A>C
ENST00000529967.6:n.2619A>C
ENST00000532220.2:n.3513A>C
ENST00000642611.2:n.5613A>C
ENST00000644057.2:n.856A>C
ENST00000645004.2:n.1779A>C
ENST00000682051.1:n.4442A>C
ENST00000682110.1:n.4495A>C
ENST00000682140.1:c.*66A>C	ENSP00000507829.1:n.*66A>C
ENST00000682185.1:n.5585A>C
ENST00000682204.1:c.*2418A>C	ENSP00000507094.1:n.*2418A>C
ENST00000682215.1:n.4862A>C
ENST00000682288.1:c.*2711A>C	ENSP00000507506.1:n.*2711A>C
ENST00000682442.1:n.4715A>C
ENST00000682528.1:n.4572A>C
ENST00000682673.1:n.4439A>C
ENST00000682805.1:n.4900A>C
ENST00000682965.1:c.*702A>C	ENSP00000508229.1:n.*702A>C
ENST00000683093.1:n.5579A>C
ENST00000683136.1:c.4163A>C	ENSP00000507768.1:p.Asp1388Ala
ENST00000683153.1:n.4537A>C
ENST00000683365.1:n.4597A>C
ENST00000683377.1:n.4495A>C
ENST00000683456.1:c.*1417A>C	ENSP00000508318.1:n.*1417A>C
ENST00000683522.1:n.4495A>C
ENST00000683562.1:c.*2449A>C	ENSP00000508265.1:n.*2449A>C
ENST00000683693.1:n.6060A>C
ENST00000683725.1:c.4280A>C	ENSP00000507496.1:p.Asp1427Ala
ENST00000684010.1:n.4490A>C
ENST00000684157.1:n.5480A>C
ENST00000684253.1:n.4398A>C
ENST00000684288.1:c.*2452A>C	ENSP00000507143.1:n.*2452A>C
ENST00000684313.1:n.3927A>C
ENST00000684332.1:n.4568A>C
ENST00000684371.1:n.4601A>C
ENST00000684404.1:n.5523A>C
ENST00000684442.1:n.4719A>C
ENST00000684555.1:c.*2492A>C	ENSP00000507705.1:n.*2492A>C
ENST00000684571.1:c.4121A>C	ENSP00000506935.1:p.Asp1374Ala
ENST00000684593.1:c.*3985A>C	ENSP00000507005.1:n.*3985A>C
ENST00000684711.1:c.*2676A>C	ENSP00000506841.1:n.*2676A>C
ENST00000302539.9:c.4283A>C	ENSP00000303960.4:p.Asp1428Ala
ENST00000389817.8:c.4280A>C MANE Select	ENSP00000374467.4:p.Asp1427Ala
ENST00000642271.1:c.4277A>C	ENSP00000493749.1:p.Asp1426Ala
ENST00000642579.1:c.2334A>C
ENST00000642611.1:n.5498A>C
ENST00000642902.1:c.4062A>C
ENST00000643260.1:c.4280A>C	ENSP00000494450.1:p.Asp1427Ala
ENST00000643562.1:c.*2402A>C	ENSP00000496124.1:n.*2402A>C
ENST00000643925.1:c.2920A>C
ENST00000644057.1:n.357A>C
ENST00000644484.1:c.*3666A>C	ENSP00000493558.1:n.*3666A>C
ENST00000644675.1:c.*2452A>C	ENSP00000494567.1:n.*2452A>C
ENST00000644757.1:c.*3202+627A>C	ENSP00000495085.1:n.*3202+627A>C
ENST00000644772.1:c.4346A>C	ENSP00000494321.1:p.Asp1449Ala
ENST00000645004.1:n.1973A>C
ENST00000645076.1:c.3479A>C
ENST00000645417.1:c.1468A>C
ENST00000645744.1:c.*3965A>C	ENSP00000494564.1:n.*3965A>C
ENST00000645760.1:c.4701A>C
ENST00000645884.1:c.*1563A>C	ENSP00000495516.1:n.*1563A>C
ENST00000646003.1:c.*2302A>C	ENSP00000495259.1:n.*2302A>C
ENST00000646207.1:c.*3117A>C	ENSP00000495025.1:n.*3117A>C
ENST00000646276.1:c.*3684A>C	ENSP00000496070.1:n.*3684A>C
ENST00000646592.1:c.3586A>C
ENST00000646902.1:c.4247A>C	ENSP00000494101.1:p.Asp1416Ala
ENST00000646993.1:c.*2822A>C	ENSP00000493720.1:n.*2822A>C
ENST00000647013.1:c.4286A>C	ENSP00000496741.1:n.4286A>C
ENST00000647015.1:c.4031A>C	ENSP00000495389.1:p.Asp1344Ala
ENST00000647086.1:c.*3866A>C	ENSP00000493677.1:n.*3866A>C
ENST00000647158.1:c.*2567A>C	ENSP00000495744.1:n.*2567A>C
ENST00000302539.8:c.4283A>C	ENSP00000303960.4:p.Asp1428Ala
ENST00000389817.7:c.4280A>C	ENSP00000374467.3:p.Asp1427Ala
ENST00000525022.1:n.279A>C
ENST00000526037.5:n.144A>C
ENST00000526168.5:c.68A>C
ENST00000531642.5:c.116A>C
NM_000352.4:c.4280A>C	NP_000343.2:p.Asp1427Ala
NM_001287174.1:c.4283A>C	NP_001274103.1:p.Asp1428Ala
XM_011520331.1:c.4280A>C	XP_011518633.1:p.Asp1427Ala
XM_011520332.1:c.4283A>C	XP_011518634.1:p.Asp1428Ala
XM_011520333.1:c.2780A>C	XP_011518635.1:p.Asp927Ala
XR_930890.1:n.4346A>C
NM_001351295.1:c.4346A>C	NP_001338224.1:p.Asp1449Ala
NM_001351296.1:c.4280A>C	NP_001338225.1:p.Asp1427Ala
NM_001351297.1:c.4277A>C	NP_001338226.1:p.Asp1426Ala
NR_147094.1:n.4575A>C
XM_017018197.2:c.4349A>C	XP_016873686.1:p.Asp1450Ala
XM_017018199.1:c.4346A>C	XP_016873688.1:p.Asp1449Ala
XM_017018201.2:c.4349A>C	XP_016873690.1:p.Asp1450Ala
XM_017018202.1:c.2846A>C	XP_016873691.1:p.Asp949Ala
XM_017018204.1:c.2237A>C	XP_016873693.1:p.Asp746Ala
XM_024448668.1:c.2648A>C	XP_024304436.1:p.Asp883Ala
XR_001747945.2:n.4421A>C
XR_001747946.2:n.4352A>C
XR_002957189.1:n.6135A>C
NM_000352.6:c.4280A>C MANE Select	NP_000343.2:p.Asp1427Ala
NM_001287174.2:c.4283A>C	NP_001274103.1:p.Asp1428Ala
NM_001351295.2:c.4346A>C	NP_001338224.1:p.Asp1449Ala
NM_001351296.2:c.4280A>C	NP_001338225.1:p.Asp1427Ala
NM_001351297.2:c.4277A>C	NP_001338226.1:p.Asp1426Ala
NR_147094.2:n.4575A>C
NM_001287174.3:c.4283A>C	NP_001274103.1:p.Asp1428Ala