Canonical Allele Identifier: CA379805126

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429989A>C (hg19) ; chr11:g.17408442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408442A>C , CM000673.2:g.17408442A>C	GRCh38
NC_000011.9:g.17429989A>C , CM000673.1:g.17429989A>C	GRCh37
NC_000011.8:g.17386565A>C	NCBI36
NG_008867.1:g.73461T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2439T>G
ENST00000529967.6:n.1029T>G
ENST00000532220.2:n.502T>G
ENST00000642611.2:n.2839T>G
ENST00000682051.1:n.2786T>G
ENST00000682110.1:n.2839T>G
ENST00000682140.1:c.2767T>G	ENSP00000507829.1:p.Phe923Val
ENST00000682185.1:n.4075T>G
ENST00000682204.1:c.*908T>G	ENSP00000507094.1:n.*908T>G
ENST00000682215.1:n.2836T>G
ENST00000682288.1:c.*1201T>G	ENSP00000507506.1:n.*1201T>G
ENST00000682442.1:n.2960T>G
ENST00000682528.1:n.2836T>G
ENST00000682673.1:n.2783T>G
ENST00000682805.1:n.2836T>G
ENST00000682965.1:c.2767T>G	ENSP00000508229.1:p.Phe923Val
ENST00000683093.1:n.2938T>G
ENST00000683136.1:c.2767T>G	ENSP00000507768.1:p.Phe923Val
ENST00000683153.1:n.2995T>G
ENST00000683365.1:n.2941T>G
ENST00000683377.1:n.2839T>G
ENST00000683456.1:c.2770T>G	ENSP00000508318.1:p.Phe924Val
ENST00000683522.1:n.2839T>G
ENST00000683562.1:c.*939T>G	ENSP00000508265.1:n.*939T>G
ENST00000683693.1:n.2836T>G
ENST00000683725.1:c.2770T>G	ENSP00000507496.1:p.Phe924Val
ENST00000684010.1:n.2754T>G
ENST00000684157.1:n.2839T>G
ENST00000684253.1:n.2742T>G
ENST00000684288.1:c.*942T>G	ENSP00000507143.1:n.*942T>G
ENST00000684313.1:n.2271T>G
ENST00000684332.1:n.2912T>G
ENST00000684371.1:n.2945T>G
ENST00000684404.1:n.2836T>G
ENST00000684442.1:n.2839T>G
ENST00000684555.1:c.*982T>G	ENSP00000507705.1:n.*982T>G
ENST00000684571.1:c.2611T>G	ENSP00000506935.1:p.Phe871Val
ENST00000684593.1:c.*2475T>G	ENSP00000507005.1:n.*2475T>G
ENST00000684711.1:c.*1166T>G	ENSP00000506841.1:n.*1166T>G
ENST00000302539.9:c.2773T>G	ENSP00000303960.4:p.Phe925Val
ENST00000389817.8:c.2770T>G MANE Select	ENSP00000374467.4:p.Phe924Val
ENST00000642271.1:c.2767T>G	ENSP00000493749.1:p.Phe923Val
ENST00000642579.1:c.854T>G
ENST00000642611.1:n.2724T>G
ENST00000642902.1:c.2605T>G
ENST00000643260.1:c.2770T>G	ENSP00000494450.1:p.Phe924Val
ENST00000643562.1:c.*746T>G	ENSP00000496124.1:n.*746T>G
ENST00000643925.1:c.814T>G
ENST00000644447.1:c.1126T>G	ENSP00000496282.1:p.Phe376Val
ENST00000644472.1:c.*1131T>G	ENSP00000495378.1:n.*1131T>G
ENST00000644484.1:c.*979T>G	ENSP00000493558.1:n.*979T>G
ENST00000644542.1:c.*2475T>G	ENSP00000495532.1:n.*2475T>G
ENST00000644675.1:c.*942T>G	ENSP00000494567.1:n.*942T>G
ENST00000644757.1:c.*1075T>G	ENSP00000495085.1:n.*1075T>G
ENST00000644772.1:c.2836T>G	ENSP00000494321.1:p.Phe946Val
ENST00000645076.1:c.2022T>G
ENST00000645744.1:c.*1134T>G	ENSP00000494564.1:n.*1134T>G
ENST00000645760.1:c.3045T>G
ENST00000645884.1:c.2770T>G	ENSP00000495516.1:p.Phe924Val
ENST00000646003.1:c.*826T>G	ENSP00000495259.1:n.*826T>G
ENST00000646207.1:c.*1134T>G	ENSP00000495025.1:n.*1134T>G
ENST00000646276.1:c.*1043T>G	ENSP00000496070.1:n.*1043T>G
ENST00000646592.1:c.1996T>G
ENST00000646902.1:c.2767T>G	ENSP00000494101.1:p.Phe923Val
ENST00000646993.1:c.*1166T>G	ENSP00000493720.1:n.*1166T>G
ENST00000647013.1:c.2776T>G	ENSP00000496741.1:n.2776T>G
ENST00000647015.1:c.2521T>G	ENSP00000495389.1:p.Phe841Val
ENST00000647086.1:c.*2500T>G	ENSP00000493677.1:n.*2500T>G
ENST00000647158.1:c.*911T>G	ENSP00000495744.1:n.*911T>G
ENST00000302539.8:c.2773T>G	ENSP00000303960.4:p.Phe925Val
ENST00000389817.7:c.2770T>G	ENSP00000374467.3:p.Phe924Val
ENST00000526921.5:n.454T>G
ENST00000527905.5:c.2740T>G	ENSP00000431653.1:p.Phe914Val
ENST00000529967.5:n.439T>G
NM_000352.4:c.2770T>G	NP_000343.2:p.Phe924Val
NM_001287174.1:c.2773T>G	NP_001274103.1:p.Phe925Val
XM_011520331.1:c.2770T>G	XP_011518633.1:p.Phe924Val
XM_011520332.1:c.2773T>G	XP_011518634.1:p.Phe925Val
XM_011520333.1:c.1270T>G	XP_011518635.1:p.Phe424Val
XM_011520334.1:c.2773T>G	XP_011518636.1:p.Phe925Val
XR_930890.1:n.2836T>G
XR_930891.1:n.2836T>G
XR_930892.1:n.2836T>G
XR_930893.1:n.2833T>G
NM_001351295.1:c.2836T>G	NP_001338224.1:p.Phe946Val
NM_001351296.1:c.2770T>G	NP_001338225.1:p.Phe924Val
NM_001351297.1:c.2767T>G	NP_001338226.1:p.Phe923Val
NR_147094.1:n.2839T>G
XM_017018197.2:c.2839T>G	XP_016873686.1:p.Phe947Val
XM_017018199.1:c.2836T>G	XP_016873688.1:p.Phe946Val
XM_017018201.2:c.2839T>G	XP_016873690.1:p.Phe947Val
XM_017018202.1:c.1336T>G	XP_016873691.1:p.Phe446Val
XM_017018204.1:c.727T>G	XP_016873693.1:p.Phe243Val
XM_024448668.1:c.1138T>G	XP_024304436.1:p.Phe380Val
XR_001747945.2:n.2911T>G
XR_001747946.2:n.2842T>G
XR_002957189.1:n.2911T>G
NM_000352.6:c.2770T>G MANE Select	NP_000343.2:p.Phe924Val
NM_001287174.2:c.2773T>G	NP_001274103.1:p.Phe925Val
NM_001351295.2:c.2836T>G	NP_001338224.1:p.Phe946Val
NM_001351296.2:c.2770T>G	NP_001338225.1:p.Phe924Val
NM_001351297.2:c.2767T>G	NP_001338226.1:p.Phe923Val
NR_147094.2:n.2839T>G
NM_001287174.3:c.2773T>G	NP_001274103.1:p.Phe925Val