Canonical Allele Identifier: CA379807589

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434268C>G (hg19) ; chr11:g.17412721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412721C>G , CM000673.2:g.17412721C>G	GRCh38
NC_000011.9:g.17434268C>G , CM000673.1:g.17434268C>G	GRCh37
NC_000011.8:g.17390844C>G	NCBI36
NG_008867.1:g.69182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2170G>C
ENST00000529967.6:n.760G>C
ENST00000642611.2:n.2570G>C
ENST00000682051.1:n.2517G>C
ENST00000682110.1:n.2570G>C
ENST00000682140.1:c.2498G>C	ENSP00000507829.1:p.Arg833Pro
ENST00000682185.1:n.3806G>C
ENST00000682204.1:c.*639G>C	ENSP00000507094.1:n.*639G>C
ENST00000682215.1:n.2567G>C
ENST00000682288.1:c.*932G>C	ENSP00000507506.1:n.*932G>C
ENST00000682442.1:n.2691G>C
ENST00000682528.1:n.2567G>C
ENST00000682673.1:n.2514G>C
ENST00000682805.1:n.2567G>C
ENST00000682965.1:c.2498G>C	ENSP00000508229.1:p.Arg833Pro
ENST00000683093.1:n.2669G>C
ENST00000683136.1:c.2498G>C	ENSP00000507768.1:p.Arg833Pro
ENST00000683153.1:n.2726G>C
ENST00000683365.1:n.2672G>C
ENST00000683377.1:n.2570G>C
ENST00000683456.1:c.2501G>C	ENSP00000508318.1:p.Arg834Pro
ENST00000683522.1:n.2570G>C
ENST00000683562.1:c.*670G>C	ENSP00000508265.1:n.*670G>C
ENST00000683693.1:n.2567G>C
ENST00000683725.1:c.2501G>C	ENSP00000507496.1:p.Arg834Pro
ENST00000684010.1:n.2485G>C
ENST00000684157.1:n.2570G>C
ENST00000684253.1:n.2473G>C
ENST00000684288.1:c.*673G>C	ENSP00000507143.1:n.*673G>C
ENST00000684313.1:n.2002G>C
ENST00000684332.1:n.2643G>C
ENST00000684371.1:n.2676G>C
ENST00000684404.1:n.2567G>C
ENST00000684442.1:n.2570G>C
ENST00000684555.1:c.*713G>C	ENSP00000507705.1:n.*713G>C
ENST00000684571.1:c.2342G>C	ENSP00000506935.1:p.Arg781Pro
ENST00000684593.1:c.*2206G>C	ENSP00000507005.1:n.*2206G>C
ENST00000684711.1:c.*897G>C	ENSP00000506841.1:n.*897G>C
ENST00000302539.9:c.2504G>C	ENSP00000303960.4:p.Arg835Pro
ENST00000389817.8:c.2501G>C MANE Select	ENSP00000374467.4:p.Arg834Pro
ENST00000642271.1:c.2498G>C	ENSP00000493749.1:p.Arg833Pro
ENST00000642579.1:c.585G>C
ENST00000642611.1:n.2455G>C
ENST00000642902.1:c.2336G>C
ENST00000643260.1:c.2501G>C	ENSP00000494450.1:p.Arg834Pro
ENST00000643562.1:c.*477G>C	ENSP00000496124.1:n.*477G>C
ENST00000643925.1:c.545G>C
ENST00000644447.1:c.857G>C	ENSP00000496282.1:p.Arg286Pro
ENST00000644472.1:c.*862G>C	ENSP00000495378.1:n.*862G>C
ENST00000644484.1:c.*710G>C	ENSP00000493558.1:n.*710G>C
ENST00000644542.1:c.*2206G>C	ENSP00000495532.1:n.*2206G>C
ENST00000644675.1:c.*673G>C	ENSP00000494567.1:n.*673G>C
ENST00000644757.1:c.*806G>C	ENSP00000495085.1:n.*806G>C
ENST00000644772.1:c.2567G>C	ENSP00000494321.1:p.Arg856Pro
ENST00000645076.1:c.1753G>C
ENST00000645744.1:c.*865G>C	ENSP00000494564.1:n.*865G>C
ENST00000645760.1:c.2776G>C
ENST00000645884.1:c.2501G>C	ENSP00000495516.1:p.Arg834Pro
ENST00000646003.1:c.*557G>C	ENSP00000495259.1:n.*557G>C
ENST00000646207.1:c.*865G>C	ENSP00000495025.1:n.*865G>C
ENST00000646276.1:c.*774G>C	ENSP00000496070.1:n.*774G>C
ENST00000646592.1:c.1727G>C
ENST00000646902.1:c.2498G>C	ENSP00000494101.1:p.Arg833Pro
ENST00000646993.1:c.*897G>C	ENSP00000493720.1:n.*897G>C
ENST00000647013.1:c.2507G>C	ENSP00000496741.1:n.2507G>C
ENST00000647015.1:c.2252G>C	ENSP00000495389.1:p.Arg751Pro
ENST00000647086.1:c.*2231G>C	ENSP00000493677.1:n.*2231G>C
ENST00000647158.1:c.*642G>C	ENSP00000495744.1:n.*642G>C
ENST00000302539.8:c.2504G>C	ENSP00000303960.4:p.Arg835Pro
ENST00000389817.7:c.2501G>C	ENSP00000374467.3:p.Arg834Pro
ENST00000526921.5:n.185G>C
ENST00000527905.5:c.2471G>C	ENSP00000431653.1:p.Arg824Pro
ENST00000529967.5:n.170G>C
ENST00000530147.5:n.84G>C
ENST00000531911.1:n.615G>C
NM_000352.4:c.2501G>C	NP_000343.2:p.Arg834Pro
NM_001287174.1:c.2504G>C	NP_001274103.1:p.Arg835Pro
XM_011520331.1:c.2501G>C	XP_011518633.1:p.Arg834Pro
XM_011520332.1:c.2504G>C	XP_011518634.1:p.Arg835Pro
XM_011520333.1:c.1001G>C	XP_011518635.1:p.Arg334Pro
XM_011520334.1:c.2504G>C	XP_011518636.1:p.Arg835Pro
XR_930890.1:n.2567G>C
XR_930891.1:n.2567G>C
XR_930892.1:n.2567G>C
XR_930893.1:n.2564G>C
NM_001351295.1:c.2567G>C	NP_001338224.1:p.Arg856Pro
NM_001351296.1:c.2501G>C	NP_001338225.1:p.Arg834Pro
NM_001351297.1:c.2498G>C	NP_001338226.1:p.Arg833Pro
NR_147094.1:n.2570G>C
XM_017018197.2:c.2570G>C	XP_016873686.1:p.Arg857Pro
XM_017018199.1:c.2567G>C	XP_016873688.1:p.Arg856Pro
XM_017018201.2:c.2570G>C	XP_016873690.1:p.Arg857Pro
XM_017018202.1:c.1067G>C	XP_016873691.1:p.Arg356Pro
XM_017018204.1:c.458G>C	XP_016873693.1:p.Arg153Pro
XM_024448668.1:c.869G>C	XP_024304436.1:p.Arg290Pro
XR_001747945.2:n.2642G>C
XR_001747946.2:n.2573G>C
XR_002957189.1:n.2642G>C
NM_000352.6:c.2501G>C MANE Select	NP_000343.2:p.Arg834Pro
NM_001287174.2:c.2504G>C	NP_001274103.1:p.Arg835Pro
NM_001351295.2:c.2567G>C	NP_001338224.1:p.Arg856Pro
NM_001351296.2:c.2501G>C	NP_001338225.1:p.Arg834Pro
NM_001351297.2:c.2498G>C	NP_001338226.1:p.Arg833Pro
NR_147094.2:n.2570G>C
NM_001287174.3:c.2504G>C	NP_001274103.1:p.Arg835Pro