Canonical Allele Identifier: CA473300911

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432099C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410552C>G , CM000673.2:g.17410552C>G	GRCh38
NC_000011.9:g.17432099C>G , CM000673.1:g.17432099C>G	GRCh37
NC_000011.8:g.17388675C>G	NCBI36
NG_008867.1:g.71351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2327G>C
ENST00000529967.6:n.917G>C
ENST00000642611.2:n.2727G>C
ENST00000682051.1:n.2674G>C
ENST00000682110.1:n.2727G>C
ENST00000682140.1:c.2655G>C	ENSP00000507829.1:p.Val885=
ENST00000682185.1:n.3963G>C
ENST00000682204.1:c.*796G>C	ENSP00000507094.1:n.*796G>C
ENST00000682215.1:n.2724G>C
ENST00000682288.1:c.*1089G>C	ENSP00000507506.1:n.*1089G>C
ENST00000682442.1:n.2848G>C
ENST00000682528.1:n.2724G>C
ENST00000682673.1:n.2671G>C
ENST00000682805.1:n.2724G>C
ENST00000682965.1:c.2655G>C	ENSP00000508229.1:p.Val885=
ENST00000683093.1:n.2826G>C
ENST00000683136.1:c.2655G>C	ENSP00000507768.1:p.Val885=
ENST00000683153.1:n.2883G>C
ENST00000683365.1:n.2829G>C
ENST00000683377.1:n.2727G>C
ENST00000683456.1:c.2658G>C	ENSP00000508318.1:p.Val886=
ENST00000683522.1:n.2727G>C
ENST00000683562.1:c.*827G>C	ENSP00000508265.1:n.*827G>C
ENST00000683693.1:n.2724G>C
ENST00000683725.1:c.2658G>C	ENSP00000507496.1:p.Val886=
ENST00000684010.1:n.2642G>C
ENST00000684157.1:n.2727G>C
ENST00000684253.1:n.2630G>C
ENST00000684288.1:c.*830G>C	ENSP00000507143.1:n.*830G>C
ENST00000684313.1:n.2159G>C
ENST00000684332.1:n.2800G>C
ENST00000684371.1:n.2833G>C
ENST00000684404.1:n.2724G>C
ENST00000684442.1:n.2727G>C
ENST00000684555.1:c.*870G>C	ENSP00000507705.1:n.*870G>C
ENST00000684571.1:c.2499G>C	ENSP00000506935.1:p.Val833=
ENST00000684593.1:c.*2363G>C	ENSP00000507005.1:n.*2363G>C
ENST00000684711.1:c.*1054G>C	ENSP00000506841.1:n.*1054G>C
ENST00000302539.9:c.2661G>C	ENSP00000303960.4:p.Val887=
ENST00000389817.8:c.2658G>C MANE Select	ENSP00000374467.4:p.Val886=
ENST00000642271.1:c.2655G>C	ENSP00000493749.1:p.Val885=
ENST00000642579.1:c.742G>C
ENST00000642611.1:n.2612G>C
ENST00000642902.1:c.2493G>C
ENST00000643260.1:c.2658G>C	ENSP00000494450.1:p.Val886=
ENST00000643562.1:c.*634G>C	ENSP00000496124.1:n.*634G>C
ENST00000643925.1:c.702G>C
ENST00000644447.1:c.1014G>C	ENSP00000496282.1:p.Val338=
ENST00000644472.1:c.*1019G>C	ENSP00000495378.1:n.*1019G>C
ENST00000644484.1:c.*867G>C	ENSP00000493558.1:n.*867G>C
ENST00000644542.1:c.*2363G>C	ENSP00000495532.1:n.*2363G>C
ENST00000644675.1:c.*830G>C	ENSP00000494567.1:n.*830G>C
ENST00000644757.1:c.*963G>C	ENSP00000495085.1:n.*963G>C
ENST00000644772.1:c.2724G>C	ENSP00000494321.1:p.Val908=
ENST00000645076.1:c.1910G>C
ENST00000645744.1:c.*1022G>C	ENSP00000494564.1:n.*1022G>C
ENST00000645760.1:c.2933G>C
ENST00000645884.1:c.2658G>C	ENSP00000495516.1:p.Val886=
ENST00000646003.1:c.*714G>C	ENSP00000495259.1:n.*714G>C
ENST00000646207.1:c.*1022G>C	ENSP00000495025.1:n.*1022G>C
ENST00000646276.1:c.*931G>C	ENSP00000496070.1:n.*931G>C
ENST00000646592.1:c.1884G>C
ENST00000646902.1:c.2655G>C	ENSP00000494101.1:p.Val885=
ENST00000646993.1:c.*1054G>C	ENSP00000493720.1:n.*1054G>C
ENST00000647013.1:c.2664G>C	ENSP00000496741.1:n.2664G>C
ENST00000647015.1:c.2409G>C	ENSP00000495389.1:p.Val803=
ENST00000647086.1:c.*2388G>C	ENSP00000493677.1:n.*2388G>C
ENST00000647158.1:c.*799G>C	ENSP00000495744.1:n.*799G>C
ENST00000302539.8:c.2661G>C	ENSP00000303960.4:p.Val887=
ENST00000389817.7:c.2658G>C	ENSP00000374467.3:p.Val886=
ENST00000526921.5:n.342G>C
ENST00000527905.5:c.2628G>C	ENSP00000431653.1:p.Val876=
ENST00000529967.5:n.327G>C
ENST00000530147.5:n.241G>C
NM_000352.4:c.2658G>C	NP_000343.2:p.Val886=
NM_001287174.1:c.2661G>C	NP_001274103.1:p.Val887=
XM_011520331.1:c.2658G>C	XP_011518633.1:p.Val886=
XM_011520332.1:c.2661G>C	XP_011518634.1:p.Val887=
XM_011520333.1:c.1158G>C	XP_011518635.1:p.Val386=
XM_011520334.1:c.2661G>C	XP_011518636.1:p.Val887=
XR_930890.1:n.2724G>C
XR_930891.1:n.2724G>C
XR_930892.1:n.2724G>C
XR_930893.1:n.2721G>C
NM_001351295.1:c.2724G>C	NP_001338224.1:p.Val908=
NM_001351296.1:c.2658G>C	NP_001338225.1:p.Val886=
NM_001351297.1:c.2655G>C	NP_001338226.1:p.Val885=
NR_147094.1:n.2727G>C
XM_017018197.2:c.2727G>C	XP_016873686.1:p.Val909=
XM_017018199.1:c.2724G>C	XP_016873688.1:p.Val908=
XM_017018201.2:c.2727G>C	XP_016873690.1:p.Val909=
XM_017018202.1:c.1224G>C	XP_016873691.1:p.Val408=
XM_017018204.1:c.615G>C	XP_016873693.1:p.Val205=
XM_024448668.1:c.1026G>C	XP_024304436.1:p.Val342=
XR_001747945.2:n.2799G>C
XR_001747946.2:n.2730G>C
XR_002957189.1:n.2799G>C
NM_000352.6:c.2658G>C MANE Select	NP_000343.2:p.Val886=
NM_001287174.2:c.2661G>C	NP_001274103.1:p.Val887=
NM_001351295.2:c.2724G>C	NP_001338224.1:p.Val908=
NM_001351296.2:c.2658G>C	NP_001338225.1:p.Val886=
NM_001351297.2:c.2655G>C	NP_001338226.1:p.Val885=
NR_147094.2:n.2727G>C
NM_001287174.3:c.2661G>C	NP_001274103.1:p.Val887=