Canonical Allele Identifier: CA5903108

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1101124
• ClinVar RCV Id: RCV001423967
• dbSNP Id: rs550307286
• ExAC: 11:17434282 C / T
• gnomAD v2: 11-17434282-C-T
• gnomAD v3: 11-17412735-C-T
• gnomAD v4: 11-17412735-C-T
• MyVariant Identifiers: chr11:g.17434282C>T (hg19) ; chr11:g.17412735C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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