Canonical Allele Identifier: CA379807728

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412738-G-T
• MyVariant Identifiers: chr11:g.17434285G>T (hg19) ; chr11:g.17412738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412738G>T , CM000673.2:g.17412738G>T	GRCh38
NC_000011.9:g.17434285G>T , CM000673.1:g.17434285G>T	GRCh37
NC_000011.8:g.17390861G>T	NCBI36
NG_008867.1:g.69165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2153C>A
ENST00000529967.6:n.743C>A
ENST00000642611.2:n.2553C>A
ENST00000682051.1:n.2500C>A
ENST00000682110.1:n.2553C>A
ENST00000682140.1:c.2481C>A	ENSP00000507829.1:p.Asn827Lys
ENST00000682185.1:n.3789C>A
ENST00000682204.1:c.*622C>A	ENSP00000507094.1:n.*622C>A
ENST00000682215.1:n.2550C>A
ENST00000682288.1:c.*915C>A	ENSP00000507506.1:n.*915C>A
ENST00000682442.1:n.2674C>A
ENST00000682528.1:n.2550C>A
ENST00000682673.1:n.2497C>A
ENST00000682805.1:n.2550C>A
ENST00000682965.1:c.2481C>A	ENSP00000508229.1:p.Asn827Lys
ENST00000683093.1:n.2652C>A
ENST00000683136.1:c.2481C>A	ENSP00000507768.1:p.Asn827Lys
ENST00000683153.1:n.2709C>A
ENST00000683365.1:n.2655C>A
ENST00000683377.1:n.2553C>A
ENST00000683456.1:c.2484C>A	ENSP00000508318.1:p.Asn828Lys
ENST00000683522.1:n.2553C>A
ENST00000683562.1:c.*653C>A	ENSP00000508265.1:n.*653C>A
ENST00000683693.1:n.2550C>A
ENST00000683725.1:c.2484C>A	ENSP00000507496.1:p.Asn828Lys
ENST00000684010.1:n.2468C>A
ENST00000684157.1:n.2553C>A
ENST00000684253.1:n.2456C>A
ENST00000684288.1:c.*656C>A	ENSP00000507143.1:n.*656C>A
ENST00000684313.1:n.1985C>A
ENST00000684332.1:n.2626C>A
ENST00000684371.1:n.2659C>A
ENST00000684404.1:n.2550C>A
ENST00000684442.1:n.2553C>A
ENST00000684555.1:c.*696C>A	ENSP00000507705.1:n.*696C>A
ENST00000684571.1:c.2325C>A	ENSP00000506935.1:p.Asn775Lys
ENST00000684593.1:c.*2189C>A	ENSP00000507005.1:n.*2189C>A
ENST00000684711.1:c.*880C>A	ENSP00000506841.1:n.*880C>A
ENST00000302539.9:c.2487C>A	ENSP00000303960.4:p.Asn829Lys
ENST00000389817.8:c.2484C>A MANE Select	ENSP00000374467.4:p.Asn828Lys
ENST00000642271.1:c.2481C>A	ENSP00000493749.1:p.Asn827Lys
ENST00000642579.1:c.568C>A
ENST00000642611.1:n.2438C>A
ENST00000642902.1:c.2319C>A
ENST00000643260.1:c.2484C>A	ENSP00000494450.1:p.Asn828Lys
ENST00000643562.1:c.*460C>A	ENSP00000496124.1:n.*460C>A
ENST00000643925.1:c.528C>A
ENST00000644447.1:c.840C>A	ENSP00000496282.1:p.Asn280Lys
ENST00000644472.1:c.*845C>A	ENSP00000495378.1:n.*845C>A
ENST00000644484.1:c.*693C>A	ENSP00000493558.1:n.*693C>A
ENST00000644542.1:c.*2189C>A	ENSP00000495532.1:n.*2189C>A
ENST00000644675.1:c.*656C>A	ENSP00000494567.1:n.*656C>A
ENST00000644757.1:c.*789C>A	ENSP00000495085.1:n.*789C>A
ENST00000644772.1:c.2550C>A	ENSP00000494321.1:p.Asn850Lys
ENST00000645076.1:c.1736C>A
ENST00000645744.1:c.*848C>A	ENSP00000494564.1:n.*848C>A
ENST00000645760.1:c.2759C>A
ENST00000645884.1:c.2484C>A	ENSP00000495516.1:p.Asn828Lys
ENST00000646003.1:c.*540C>A	ENSP00000495259.1:n.*540C>A
ENST00000646207.1:c.*848C>A	ENSP00000495025.1:n.*848C>A
ENST00000646276.1:c.*757C>A	ENSP00000496070.1:n.*757C>A
ENST00000646592.1:c.1710C>A
ENST00000646902.1:c.2481C>A	ENSP00000494101.1:p.Asn827Lys
ENST00000646993.1:c.*880C>A	ENSP00000493720.1:n.*880C>A
ENST00000647013.1:c.2490C>A	ENSP00000496741.1:n.2490C>A
ENST00000647015.1:c.2235C>A	ENSP00000495389.1:p.Asn745Lys
ENST00000647086.1:c.*2214C>A	ENSP00000493677.1:n.*2214C>A
ENST00000647158.1:c.*625C>A	ENSP00000495744.1:n.*625C>A
ENST00000302539.8:c.2487C>A	ENSP00000303960.4:p.Asn829Lys
ENST00000389817.7:c.2484C>A	ENSP00000374467.3:p.Asn828Lys
ENST00000526921.5:n.168C>A
ENST00000527905.5:c.2454C>A	ENSP00000431653.1:p.Asn818Lys
ENST00000529967.5:n.153C>A
ENST00000530147.5:n.67C>A
ENST00000531911.1:n.598C>A
NM_000352.4:c.2484C>A	NP_000343.2:p.Asn828Lys
NM_001287174.1:c.2487C>A	NP_001274103.1:p.Asn829Lys
XM_011520331.1:c.2484C>A	XP_011518633.1:p.Asn828Lys
XM_011520332.1:c.2487C>A	XP_011518634.1:p.Asn829Lys
XM_011520333.1:c.984C>A	XP_011518635.1:p.Asn328Lys
XM_011520334.1:c.2487C>A	XP_011518636.1:p.Asn829Lys
XR_930890.1:n.2550C>A
XR_930891.1:n.2550C>A
XR_930892.1:n.2550C>A
XR_930893.1:n.2547C>A
NM_001351295.1:c.2550C>A	NP_001338224.1:p.Asn850Lys
NM_001351296.1:c.2484C>A	NP_001338225.1:p.Asn828Lys
NM_001351297.1:c.2481C>A	NP_001338226.1:p.Asn827Lys
NR_147094.1:n.2553C>A
XM_017018197.2:c.2553C>A	XP_016873686.1:p.Asn851Lys
XM_017018199.1:c.2550C>A	XP_016873688.1:p.Asn850Lys
XM_017018201.2:c.2553C>A	XP_016873690.1:p.Asn851Lys
XM_017018202.1:c.1050C>A	XP_016873691.1:p.Asn350Lys
XM_017018204.1:c.441C>A	XP_016873693.1:p.Asn147Lys
XM_024448668.1:c.852C>A	XP_024304436.1:p.Asn284Lys
XR_001747945.2:n.2625C>A
XR_001747946.2:n.2556C>A
XR_002957189.1:n.2625C>A
NM_000352.6:c.2484C>A MANE Select	NP_000343.2:p.Asn828Lys
NM_001287174.2:c.2487C>A	NP_001274103.1:p.Asn829Lys
NM_001351295.2:c.2550C>A	NP_001338224.1:p.Asn850Lys
NM_001351296.2:c.2484C>A	NP_001338225.1:p.Asn828Lys
NM_001351297.2:c.2481C>A	NP_001338226.1:p.Asn827Lys
NR_147094.2:n.2553C>A
NM_001287174.3:c.2487C>A	NP_001274103.1:p.Asn829Lys