Canonical Allele Identifier: CA379807675

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434277C>G (hg19) ; chr11:g.17412730C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412730C>G , CM000673.2:g.17412730C>G	GRCh38
NC_000011.9:g.17434277C>G , CM000673.1:g.17434277C>G	GRCh37
NC_000011.8:g.17390853C>G	NCBI36
NG_008867.1:g.69173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2161G>C
ENST00000529967.6:n.751G>C
ENST00000642611.2:n.2561G>C
ENST00000682051.1:n.2508G>C
ENST00000682110.1:n.2561G>C
ENST00000682140.1:c.2489G>C	ENSP00000507829.1:p.Gly830Ala
ENST00000682185.1:n.3797G>C
ENST00000682204.1:c.*630G>C	ENSP00000507094.1:n.*630G>C
ENST00000682215.1:n.2558G>C
ENST00000682288.1:c.*923G>C	ENSP00000507506.1:n.*923G>C
ENST00000682442.1:n.2682G>C
ENST00000682528.1:n.2558G>C
ENST00000682673.1:n.2505G>C
ENST00000682805.1:n.2558G>C
ENST00000682965.1:c.2489G>C	ENSP00000508229.1:p.Gly830Ala
ENST00000683093.1:n.2660G>C
ENST00000683136.1:c.2489G>C	ENSP00000507768.1:p.Gly830Ala
ENST00000683153.1:n.2717G>C
ENST00000683365.1:n.2663G>C
ENST00000683377.1:n.2561G>C
ENST00000683456.1:c.2492G>C	ENSP00000508318.1:p.Gly831Ala
ENST00000683522.1:n.2561G>C
ENST00000683562.1:c.*661G>C	ENSP00000508265.1:n.*661G>C
ENST00000683693.1:n.2558G>C
ENST00000683725.1:c.2492G>C	ENSP00000507496.1:p.Gly831Ala
ENST00000684010.1:n.2476G>C
ENST00000684157.1:n.2561G>C
ENST00000684253.1:n.2464G>C
ENST00000684288.1:c.*664G>C	ENSP00000507143.1:n.*664G>C
ENST00000684313.1:n.1993G>C
ENST00000684332.1:n.2634G>C
ENST00000684371.1:n.2667G>C
ENST00000684404.1:n.2558G>C
ENST00000684442.1:n.2561G>C
ENST00000684555.1:c.*704G>C	ENSP00000507705.1:n.*704G>C
ENST00000684571.1:c.2333G>C	ENSP00000506935.1:p.Gly778Ala
ENST00000684593.1:c.*2197G>C	ENSP00000507005.1:n.*2197G>C
ENST00000684711.1:c.*888G>C	ENSP00000506841.1:n.*888G>C
ENST00000302539.9:c.2495G>C	ENSP00000303960.4:p.Gly832Ala
ENST00000389817.8:c.2492G>C MANE Select	ENSP00000374467.4:p.Gly831Ala
ENST00000642271.1:c.2489G>C	ENSP00000493749.1:p.Gly830Ala
ENST00000642579.1:c.576G>C
ENST00000642611.1:n.2446G>C
ENST00000642902.1:c.2327G>C
ENST00000643260.1:c.2492G>C	ENSP00000494450.1:p.Gly831Ala
ENST00000643562.1:c.*468G>C	ENSP00000496124.1:n.*468G>C
ENST00000643925.1:c.536G>C
ENST00000644447.1:c.848G>C	ENSP00000496282.1:p.Gly283Ala
ENST00000644472.1:c.*853G>C	ENSP00000495378.1:n.*853G>C
ENST00000644484.1:c.*701G>C	ENSP00000493558.1:n.*701G>C
ENST00000644542.1:c.*2197G>C	ENSP00000495532.1:n.*2197G>C
ENST00000644675.1:c.*664G>C	ENSP00000494567.1:n.*664G>C
ENST00000644757.1:c.*797G>C	ENSP00000495085.1:n.*797G>C
ENST00000644772.1:c.2558G>C	ENSP00000494321.1:p.Gly853Ala
ENST00000645076.1:c.1744G>C
ENST00000645744.1:c.*856G>C	ENSP00000494564.1:n.*856G>C
ENST00000645760.1:c.2767G>C
ENST00000645884.1:c.2492G>C	ENSP00000495516.1:p.Gly831Ala
ENST00000646003.1:c.*548G>C	ENSP00000495259.1:n.*548G>C
ENST00000646207.1:c.*856G>C	ENSP00000495025.1:n.*856G>C
ENST00000646276.1:c.*765G>C	ENSP00000496070.1:n.*765G>C
ENST00000646592.1:c.1718G>C
ENST00000646902.1:c.2489G>C	ENSP00000494101.1:p.Gly830Ala
ENST00000646993.1:c.*888G>C	ENSP00000493720.1:n.*888G>C
ENST00000647013.1:c.2498G>C	ENSP00000496741.1:n.2498G>C
ENST00000647015.1:c.2243G>C	ENSP00000495389.1:p.Gly748Ala
ENST00000647086.1:c.*2222G>C	ENSP00000493677.1:n.*2222G>C
ENST00000647158.1:c.*633G>C	ENSP00000495744.1:n.*633G>C
ENST00000302539.8:c.2495G>C	ENSP00000303960.4:p.Gly832Ala
ENST00000389817.7:c.2492G>C	ENSP00000374467.3:p.Gly831Ala
ENST00000526921.5:n.176G>C
ENST00000527905.5:c.2462G>C	ENSP00000431653.1:p.Gly821Ala
ENST00000529967.5:n.161G>C
ENST00000530147.5:n.75G>C
ENST00000531911.1:n.606G>C
NM_000352.4:c.2492G>C	NP_000343.2:p.Gly831Ala
NM_001287174.1:c.2495G>C	NP_001274103.1:p.Gly832Ala
XM_011520331.1:c.2492G>C	XP_011518633.1:p.Gly831Ala
XM_011520332.1:c.2495G>C	XP_011518634.1:p.Gly832Ala
XM_011520333.1:c.992G>C	XP_011518635.1:p.Gly331Ala
XM_011520334.1:c.2495G>C	XP_011518636.1:p.Gly832Ala
XR_930890.1:n.2558G>C
XR_930891.1:n.2558G>C
XR_930892.1:n.2558G>C
XR_930893.1:n.2555G>C
NM_001351295.1:c.2558G>C	NP_001338224.1:p.Gly853Ala
NM_001351296.1:c.2492G>C	NP_001338225.1:p.Gly831Ala
NM_001351297.1:c.2489G>C	NP_001338226.1:p.Gly830Ala
NR_147094.1:n.2561G>C
XM_017018197.2:c.2561G>C	XP_016873686.1:p.Gly854Ala
XM_017018199.1:c.2558G>C	XP_016873688.1:p.Gly853Ala
XM_017018201.2:c.2561G>C	XP_016873690.1:p.Gly854Ala
XM_017018202.1:c.1058G>C	XP_016873691.1:p.Gly353Ala
XM_017018204.1:c.449G>C	XP_016873693.1:p.Gly150Ala
XM_024448668.1:c.860G>C	XP_024304436.1:p.Gly287Ala
XR_001747945.2:n.2633G>C
XR_001747946.2:n.2564G>C
XR_002957189.1:n.2633G>C
NM_000352.6:c.2492G>C MANE Select	NP_000343.2:p.Gly831Ala
NM_001287174.2:c.2495G>C	NP_001274103.1:p.Gly832Ala
NM_001351295.2:c.2558G>C	NP_001338224.1:p.Gly853Ala
NM_001351296.2:c.2492G>C	NP_001338225.1:p.Gly831Ala
NM_001351297.2:c.2489G>C	NP_001338226.1:p.Gly830Ala
NR_147094.2:n.2561G>C
NM_001287174.3:c.2495G>C	NP_001274103.1:p.Gly832Ala