Canonical Allele Identifier: CA473301297

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412735-C-A
• MyVariant Identifiers: chr11:g.17434282C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412735C>A , CM000673.2:g.17412735C>A	GRCh38
NC_000011.9:g.17434282C>A , CM000673.1:g.17434282C>A	GRCh37
NC_000011.8:g.17390858C>A	NCBI36
NG_008867.1:g.69168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2156G>T
ENST00000529967.6:n.746G>T
ENST00000642611.2:n.2556G>T
ENST00000682051.1:n.2503G>T
ENST00000682110.1:n.2556G>T
ENST00000682140.1:c.2484G>T	ENSP00000507829.1:p.Leu828=
ENST00000682185.1:n.3792G>T
ENST00000682204.1:c.*625G>T	ENSP00000507094.1:n.*625G>T
ENST00000682215.1:n.2553G>T
ENST00000682288.1:c.*918G>T	ENSP00000507506.1:n.*918G>T
ENST00000682442.1:n.2677G>T
ENST00000682528.1:n.2553G>T
ENST00000682673.1:n.2500G>T
ENST00000682805.1:n.2553G>T
ENST00000682965.1:c.2484G>T	ENSP00000508229.1:p.Leu828=
ENST00000683093.1:n.2655G>T
ENST00000683136.1:c.2484G>T	ENSP00000507768.1:p.Leu828=
ENST00000683153.1:n.2712G>T
ENST00000683365.1:n.2658G>T
ENST00000683377.1:n.2556G>T
ENST00000683456.1:c.2487G>T	ENSP00000508318.1:p.Leu829=
ENST00000683522.1:n.2556G>T
ENST00000683562.1:c.*656G>T	ENSP00000508265.1:n.*656G>T
ENST00000683693.1:n.2553G>T
ENST00000683725.1:c.2487G>T	ENSP00000507496.1:p.Leu829=
ENST00000684010.1:n.2471G>T
ENST00000684157.1:n.2556G>T
ENST00000684253.1:n.2459G>T
ENST00000684288.1:c.*659G>T	ENSP00000507143.1:n.*659G>T
ENST00000684313.1:n.1988G>T
ENST00000684332.1:n.2629G>T
ENST00000684371.1:n.2662G>T
ENST00000684404.1:n.2553G>T
ENST00000684442.1:n.2556G>T
ENST00000684555.1:c.*699G>T	ENSP00000507705.1:n.*699G>T
ENST00000684571.1:c.2328G>T	ENSP00000506935.1:p.Leu776=
ENST00000684593.1:c.*2192G>T	ENSP00000507005.1:n.*2192G>T
ENST00000684711.1:c.*883G>T	ENSP00000506841.1:n.*883G>T
ENST00000302539.9:c.2490G>T	ENSP00000303960.4:p.Leu830=
ENST00000389817.8:c.2487G>T MANE Select	ENSP00000374467.4:p.Leu829=
ENST00000642271.1:c.2484G>T	ENSP00000493749.1:p.Leu828=
ENST00000642579.1:c.571G>T
ENST00000642611.1:n.2441G>T
ENST00000642902.1:c.2322G>T
ENST00000643260.1:c.2487G>T	ENSP00000494450.1:p.Leu829=
ENST00000643562.1:c.*463G>T	ENSP00000496124.1:n.*463G>T
ENST00000643925.1:c.531G>T
ENST00000644447.1:c.843G>T	ENSP00000496282.1:p.Leu281=
ENST00000644472.1:c.*848G>T	ENSP00000495378.1:n.*848G>T
ENST00000644484.1:c.*696G>T	ENSP00000493558.1:n.*696G>T
ENST00000644542.1:c.*2192G>T	ENSP00000495532.1:n.*2192G>T
ENST00000644675.1:c.*659G>T	ENSP00000494567.1:n.*659G>T
ENST00000644757.1:c.*792G>T	ENSP00000495085.1:n.*792G>T
ENST00000644772.1:c.2553G>T	ENSP00000494321.1:p.Leu851=
ENST00000645076.1:c.1739G>T
ENST00000645744.1:c.*851G>T	ENSP00000494564.1:n.*851G>T
ENST00000645760.1:c.2762G>T
ENST00000645884.1:c.2487G>T	ENSP00000495516.1:p.Leu829=
ENST00000646003.1:c.*543G>T	ENSP00000495259.1:n.*543G>T
ENST00000646207.1:c.*851G>T	ENSP00000495025.1:n.*851G>T
ENST00000646276.1:c.*760G>T	ENSP00000496070.1:n.*760G>T
ENST00000646592.1:c.1713G>T
ENST00000646902.1:c.2484G>T	ENSP00000494101.1:p.Leu828=
ENST00000646993.1:c.*883G>T	ENSP00000493720.1:n.*883G>T
ENST00000647013.1:c.2493G>T	ENSP00000496741.1:n.2493G>T
ENST00000647015.1:c.2238G>T	ENSP00000495389.1:p.Leu746=
ENST00000647086.1:c.*2217G>T	ENSP00000493677.1:n.*2217G>T
ENST00000647158.1:c.*628G>T	ENSP00000495744.1:n.*628G>T
ENST00000302539.8:c.2490G>T	ENSP00000303960.4:p.Leu830=
ENST00000389817.7:c.2487G>T	ENSP00000374467.3:p.Leu829=
ENST00000526921.5:n.171G>T
ENST00000527905.5:c.2457G>T	ENSP00000431653.1:p.Leu819=
ENST00000529967.5:n.156G>T
ENST00000530147.5:n.70G>T
ENST00000531911.1:n.601G>T
NM_000352.4:c.2487G>T	NP_000343.2:p.Leu829=
NM_001287174.1:c.2490G>T	NP_001274103.1:p.Leu830=
XM_011520331.1:c.2487G>T	XP_011518633.1:p.Leu829=
XM_011520332.1:c.2490G>T	XP_011518634.1:p.Leu830=
XM_011520333.1:c.987G>T	XP_011518635.1:p.Leu329=
XM_011520334.1:c.2490G>T	XP_011518636.1:p.Leu830=
XR_930890.1:n.2553G>T
XR_930891.1:n.2553G>T
XR_930892.1:n.2553G>T
XR_930893.1:n.2550G>T
NM_001351295.1:c.2553G>T	NP_001338224.1:p.Leu851=
NM_001351296.1:c.2487G>T	NP_001338225.1:p.Leu829=
NM_001351297.1:c.2484G>T	NP_001338226.1:p.Leu828=
NR_147094.1:n.2556G>T
XM_017018197.2:c.2556G>T	XP_016873686.1:p.Leu852=
XM_017018199.1:c.2553G>T	XP_016873688.1:p.Leu851=
XM_017018201.2:c.2556G>T	XP_016873690.1:p.Leu852=
XM_017018202.1:c.1053G>T	XP_016873691.1:p.Leu351=
XM_017018204.1:c.444G>T	XP_016873693.1:p.Leu148=
XM_024448668.1:c.855G>T	XP_024304436.1:p.Leu285=
XR_001747945.2:n.2628G>T
XR_001747946.2:n.2559G>T
XR_002957189.1:n.2628G>T
NM_000352.6:c.2487G>T MANE Select	NP_000343.2:p.Leu829=
NM_001287174.2:c.2490G>T	NP_001274103.1:p.Leu830=
NM_001351295.2:c.2553G>T	NP_001338224.1:p.Leu851=
NM_001351296.2:c.2487G>T	NP_001338225.1:p.Leu829=
NM_001351297.2:c.2484G>T	NP_001338226.1:p.Leu828=
NR_147094.2:n.2556G>T
NM_001287174.3:c.2490G>T	NP_001274103.1:p.Leu830=