Canonical Allele Identifier: CA171062

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 157692
• ClinVar RCV Id: RCV000144987 ; RCV000279197 ; RCV000338883 ; RCV000396687 ; RCV000865324 ; RCV002243798 ; RCV002243799
• dbSNP Id: rs73423037
• ExAC: 11:17434231 G / A
• gnomAD v2: 11-17434231-G-A
• gnomAD v3: 11-17412684-G-A
• gnomAD v4: 11-17412684-G-A
• MyVariant Identifiers: chr11:g.17434231G>A (hg19) ; chr11:g.17412684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412684G>A , CM000673.2:g.17412684G>A	GRCh38
NC_000011.9:g.17434231G>A , CM000673.1:g.17434231G>A	GRCh37
NC_000011.8:g.17390807G>A	NCBI36
NG_008867.1:g.69219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2207C>T
ENST00000529967.6:n.797C>T
ENST00000642611.2:n.2607C>T
ENST00000682051.1:n.2554C>T
ENST00000682110.1:n.2607C>T
ENST00000682140.1:c.2535C>T	ENSP00000507829.1:p.His845=
ENST00000682185.1:n.3843C>T
ENST00000682204.1:c.*676C>T	ENSP00000507094.1:n.*676C>T
ENST00000682215.1:n.2604C>T
ENST00000682288.1:c.*969C>T	ENSP00000507506.1:n.*969C>T
ENST00000682442.1:n.2728C>T
ENST00000682528.1:n.2604C>T
ENST00000682673.1:n.2551C>T
ENST00000682805.1:n.2604C>T
ENST00000682965.1:c.2535C>T	ENSP00000508229.1:p.His845=
ENST00000683093.1:n.2706C>T
ENST00000683136.1:c.2535C>T	ENSP00000507768.1:p.His845=
ENST00000683153.1:n.2763C>T
ENST00000683365.1:n.2709C>T
ENST00000683377.1:n.2607C>T
ENST00000683456.1:c.2538C>T	ENSP00000508318.1:p.His846=
ENST00000683522.1:n.2607C>T
ENST00000683562.1:c.*707C>T	ENSP00000508265.1:n.*707C>T
ENST00000683693.1:n.2604C>T
ENST00000683725.1:c.2538C>T	ENSP00000507496.1:p.His846=
ENST00000684010.1:n.2522C>T
ENST00000684157.1:n.2607C>T
ENST00000684253.1:n.2510C>T
ENST00000684288.1:c.*710C>T	ENSP00000507143.1:n.*710C>T
ENST00000684313.1:n.2039C>T
ENST00000684332.1:n.2680C>T
ENST00000684371.1:n.2713C>T
ENST00000684404.1:n.2604C>T
ENST00000684442.1:n.2607C>T
ENST00000684555.1:c.*750C>T	ENSP00000507705.1:n.*750C>T
ENST00000684571.1:c.2379C>T	ENSP00000506935.1:p.His793=
ENST00000684593.1:c.*2243C>T	ENSP00000507005.1:n.*2243C>T
ENST00000684711.1:c.*934C>T	ENSP00000506841.1:n.*934C>T
ENST00000302539.9:c.2541C>T	ENSP00000303960.4:p.His847=
ENST00000389817.8:c.2538C>T MANE Select	ENSP00000374467.4:p.His846=
ENST00000642271.1:c.2535C>T	ENSP00000493749.1:p.His845=
ENST00000642579.1:c.622C>T
ENST00000642611.1:n.2492C>T
ENST00000642902.1:c.2373C>T
ENST00000643260.1:c.2538C>T	ENSP00000494450.1:p.His846=
ENST00000643562.1:c.*514C>T	ENSP00000496124.1:n.*514C>T
ENST00000643925.1:c.582C>T
ENST00000644447.1:c.894C>T	ENSP00000496282.1:p.His298=
ENST00000644472.1:c.*899C>T	ENSP00000495378.1:n.*899C>T
ENST00000644484.1:c.*747C>T	ENSP00000493558.1:n.*747C>T
ENST00000644542.1:c.*2243C>T	ENSP00000495532.1:n.*2243C>T
ENST00000644675.1:c.*710C>T	ENSP00000494567.1:n.*710C>T
ENST00000644757.1:c.*843C>T	ENSP00000495085.1:n.*843C>T
ENST00000644772.1:c.2604C>T	ENSP00000494321.1:p.His868=
ENST00000645076.1:c.1790C>T
ENST00000645744.1:c.*902C>T	ENSP00000494564.1:n.*902C>T
ENST00000645760.1:c.2813C>T
ENST00000645884.1:c.2538C>T	ENSP00000495516.1:p.His846=
ENST00000646003.1:c.*594C>T	ENSP00000495259.1:n.*594C>T
ENST00000646207.1:c.*902C>T	ENSP00000495025.1:n.*902C>T
ENST00000646276.1:c.*811C>T	ENSP00000496070.1:n.*811C>T
ENST00000646592.1:c.1764C>T
ENST00000646902.1:c.2535C>T	ENSP00000494101.1:p.His845=
ENST00000646993.1:c.*934C>T	ENSP00000493720.1:n.*934C>T
ENST00000647013.1:c.2544C>T	ENSP00000496741.1:n.2544C>T
ENST00000647015.1:c.2289C>T	ENSP00000495389.1:p.His763=
ENST00000647086.1:c.*2268C>T	ENSP00000493677.1:n.*2268C>T
ENST00000647158.1:c.*679C>T	ENSP00000495744.1:n.*679C>T
ENST00000302539.8:c.2541C>T	ENSP00000303960.4:p.His847=
ENST00000389817.7:c.2538C>T	ENSP00000374467.3:p.His846=
ENST00000526921.5:n.222C>T
ENST00000527905.5:c.2508C>T	ENSP00000431653.1:p.His836=
ENST00000529967.5:n.207C>T
ENST00000530147.5:n.121C>T
ENST00000531911.1:n.652C>T
NM_000352.4:c.2538C>T	NP_000343.2:p.His846=
NM_001287174.1:c.2541C>T	NP_001274103.1:p.His847=
XM_011520331.1:c.2538C>T	XP_011518633.1:p.His846=
XM_011520332.1:c.2541C>T	XP_011518634.1:p.His847=
XM_011520333.1:c.1038C>T	XP_011518635.1:p.His346=
XM_011520334.1:c.2541C>T	XP_011518636.1:p.His847=
XR_930890.1:n.2604C>T
XR_930891.1:n.2604C>T
XR_930892.1:n.2604C>T
XR_930893.1:n.2601C>T
NM_001351295.1:c.2604C>T	NP_001338224.1:p.His868=
NM_001351296.1:c.2538C>T	NP_001338225.1:p.His846=
NM_001351297.1:c.2535C>T	NP_001338226.1:p.His845=
NR_147094.1:n.2607C>T
XM_017018197.2:c.2607C>T	XP_016873686.1:p.His869=
XM_017018199.1:c.2604C>T	XP_016873688.1:p.His868=
XM_017018201.2:c.2607C>T	XP_016873690.1:p.His869=
XM_017018202.1:c.1104C>T	XP_016873691.1:p.His368=
XM_017018204.1:c.495C>T	XP_016873693.1:p.His165=
XM_024448668.1:c.906C>T	XP_024304436.1:p.His302=
XR_001747945.2:n.2679C>T
XR_001747946.2:n.2610C>T
XR_002957189.1:n.2679C>T
NM_000352.6:c.2538C>T MANE Select	NP_000343.2:p.His846=
NM_001287174.2:c.2541C>T	NP_001274103.1:p.His847=
NM_001351295.2:c.2604C>T	NP_001338224.1:p.His868=
NM_001351296.2:c.2538C>T	NP_001338225.1:p.His846=
NM_001351297.2:c.2535C>T	NP_001338226.1:p.His845=
NR_147094.2:n.2607C>T
NM_001287174.3:c.2541C>T	NP_001274103.1:p.His847=