Canonical Allele Identifier: CA5902460

Gene: ABCC8

Linked Data

• dbSNP Id: rs369681363
• ExAC: 11:17415847 A / G
• gnomAD v2: 11-17415847-A-G
• gnomAD v3: 11-17394300-A-G
• gnomAD v4: 11-17394300-A-G
• MyVariant Identifiers: chr11:g.17415847A>G (hg19) ; chr11:g.17394300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394300A>G , CM000673.2:g.17394300A>G	GRCh38
NC_000011.9:g.17415847A>G , CM000673.1:g.17415847A>G	GRCh37
NC_000011.8:g.17372423A>G	NCBI36
NG_008867.1:g.87603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4112T>C
ENST00000526037.6:n.446T>C
ENST00000528374.2:c.1102T>C
ENST00000529967.6:n.2850T>C
ENST00000532220.2:n.3744T>C
ENST00000642611.2:n.5844T>C
ENST00000644057.2:n.1087T>C
ENST00000645004.2:n.2010T>C
ENST00000682051.1:n.4673T>C
ENST00000682110.1:n.4726T>C
ENST00000682140.1:c.*297T>C	ENSP00000507829.1:n.*297T>C
ENST00000682185.1:n.5816T>C
ENST00000682204.1:c.*2649T>C	ENSP00000507094.1:n.*2649T>C
ENST00000682215.1:n.5093T>C
ENST00000682288.1:c.*2942T>C	ENSP00000507506.1:n.*2942T>C
ENST00000682442.1:n.4946T>C
ENST00000682528.1:n.4803T>C
ENST00000682673.1:n.4670T>C
ENST00000682805.1:n.5131T>C
ENST00000682965.1:c.*933T>C	ENSP00000508229.1:n.*933T>C
ENST00000683093.1:n.5706T>C
ENST00000683136.1:c.4394T>C	ENSP00000507768.1:p.Met1465Thr
ENST00000683153.1:n.4768T>C
ENST00000683365.1:n.4828T>C
ENST00000683377.1:n.4622T>C
ENST00000683456.1:c.*1648T>C	ENSP00000508318.1:n.*1648T>C
ENST00000683522.1:n.4808T>C
ENST00000683562.1:c.*2576T>C	ENSP00000508265.1:n.*2576T>C
ENST00000683693.1:n.6187T>C
ENST00000683725.1:c.4407T>C	ENSP00000507496.1:p.His1469=
ENST00000684010.1:n.4721T>C
ENST00000684014.1:n.698T>C
ENST00000684157.1:n.5711T>C
ENST00000684253.1:n.4629T>C
ENST00000684288.1:c.*2683T>C	ENSP00000507143.1:n.*2683T>C
ENST00000684313.1:n.4158T>C
ENST00000684332.1:n.4799T>C
ENST00000684371.1:n.4832T>C
ENST00000684404.1:n.5754T>C
ENST00000684442.1:n.4950T>C
ENST00000684555.1:c.*2723T>C	ENSP00000507705.1:n.*2723T>C
ENST00000684571.1:c.4352T>C	ENSP00000506935.1:p.Met1451Thr
ENST00000684593.1:c.*4216T>C	ENSP00000507005.1:n.*4216T>C
ENST00000684711.1:c.*2907T>C	ENSP00000506841.1:n.*2907T>C
ENST00000302539.9:c.4514T>C	ENSP00000303960.4:p.Met1505Thr
ENST00000389817.8:c.4511T>C MANE Select	ENSP00000374467.4:p.Met1504Thr
ENST00000642271.1:c.4508T>C	ENSP00000493749.1:p.Met1503Thr
ENST00000642579.1:c.2565T>C
ENST00000642611.1:n.5729T>C
ENST00000642902.1:c.4293T>C
ENST00000643260.1:c.4511T>C	ENSP00000494450.1:p.Met1504Thr
ENST00000643562.1:c.*2633T>C	ENSP00000496124.1:n.*2633T>C
ENST00000643925.1:c.3151T>C
ENST00000644057.1:n.670T>C
ENST00000644484.1:c.*3897T>C	ENSP00000493558.1:n.*3897T>C
ENST00000644675.1:c.*2683T>C	ENSP00000494567.1:n.*2683T>C
ENST00000644757.1:c.*3203-1320T>C	ENSP00000495085.1:n.*3203-1320T>C
ENST00000644772.1:c.4577T>C	ENSP00000494321.1:p.Met1526Thr
ENST00000645004.1:n.2204T>C
ENST00000645076.1:c.3606T>C
ENST00000645417.1:c.1699T>C
ENST00000645744.1:c.*4196T>C	ENSP00000494564.1:n.*4196T>C
ENST00000645760.1:c.4932T>C
ENST00000645884.1:c.*1794T>C	ENSP00000495516.1:n.*1794T>C
ENST00000646003.1:c.*2533T>C	ENSP00000495259.1:n.*2533T>C
ENST00000646207.1:c.*3348T>C	ENSP00000495025.1:n.*3348T>C
ENST00000646276.1:c.*3915T>C	ENSP00000496070.1:n.*3915T>C
ENST00000646592.1:c.3817T>C
ENST00000646902.1:c.4478T>C	ENSP00000494101.1:p.Met1493Thr
ENST00000646993.1:c.*2949T>C	ENSP00000493720.1:n.*2949T>C
ENST00000647013.1:c.4517T>C	ENSP00000496741.1:n.4517T>C
ENST00000647015.1:c.4262T>C	ENSP00000495389.1:p.Met1421Thr
ENST00000647086.1:c.*4097T>C	ENSP00000493677.1:n.*4097T>C
ENST00000647158.1:c.*2798T>C	ENSP00000495744.1:n.*2798T>C
ENST00000302539.8:c.4514T>C	ENSP00000303960.4:p.Met1505Thr
ENST00000389817.7:c.4511T>C	ENSP00000374467.3:p.Met1504Thr
ENST00000525022.1:n.406T>C
ENST00000526037.5:n.271T>C
ENST00000526168.5:c.299T>C
ENST00000531642.5:c.542T>C
NM_000352.4:c.4511T>C	NP_000343.2:p.Met1504Thr
NM_001287174.1:c.4514T>C	NP_001274103.1:p.Met1505Thr
XM_011520331.1:c.4511T>C	XP_011518633.1:p.Met1504Thr
XM_011520332.1:c.4410T>C	XP_011518634.1:p.His1470=
XM_011520333.1:c.3011T>C	XP_011518635.1:p.Met1004Thr
XR_930890.1:n.4473T>C
NM_001351295.1:c.4577T>C	NP_001338224.1:p.Met1526Thr
NM_001351296.1:c.4511T>C	NP_001338225.1:p.Met1504Thr
NM_001351297.1:c.4508T>C	NP_001338226.1:p.Met1503Thr
NR_147094.1:n.4806T>C
XM_017018197.2:c.4580T>C	XP_016873686.1:p.Met1527Thr
XM_017018199.1:c.4577T>C	XP_016873688.1:p.Met1526Thr
XM_017018201.2:c.4476T>C	XP_016873690.1:p.His1492=
XM_017018202.1:c.3077T>C	XP_016873691.1:p.Met1026Thr
XM_017018204.1:c.2468T>C	XP_016873693.1:p.Met823Thr
XM_024448668.1:c.2879T>C	XP_024304436.1:p.Met960Thr
XR_001747945.2:n.4548T>C
XR_001747946.2:n.4479T>C
XR_002957189.1:n.6262T>C
NM_000352.6:c.4511T>C MANE Select	NP_000343.2:p.Met1504Thr
NM_001287174.2:c.4514T>C	NP_001274103.1:p.Met1505Thr
NM_001351295.2:c.4577T>C	NP_001338224.1:p.Met1526Thr
NM_001351296.2:c.4511T>C	NP_001338225.1:p.Met1504Thr
NM_001351297.2:c.4508T>C	NP_001338226.1:p.Met1503Thr
NR_147094.2:n.4806T>C
NM_001287174.3:c.4514T>C	NP_001274103.1:p.Met1505Thr