Canonical Allele Identifier: CA379807593

Gene: ABCC8

Linked Data

• dbSNP Id: rs140068774
• MyVariant Identifiers: chr11:g.17434269G>T (hg19) ; chr11:g.17412722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412722G>T , CM000673.2:g.17412722G>T	GRCh38
NC_000011.9:g.17434269G>T , CM000673.1:g.17434269G>T	GRCh37
NC_000011.8:g.17390845G>T	NCBI36
NG_008867.1:g.69181C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2169C>A
ENST00000529967.6:n.759C>A
ENST00000642611.2:n.2569C>A
ENST00000682051.1:n.2516C>A
ENST00000682110.1:n.2569C>A
ENST00000682140.1:c.2497C>A	ENSP00000507829.1:p.Arg833Ser
ENST00000682185.1:n.3805C>A
ENST00000682204.1:c.*638C>A	ENSP00000507094.1:n.*638C>A
ENST00000682215.1:n.2566C>A
ENST00000682288.1:c.*931C>A	ENSP00000507506.1:n.*931C>A
ENST00000682442.1:n.2690C>A
ENST00000682528.1:n.2566C>A
ENST00000682673.1:n.2513C>A
ENST00000682805.1:n.2566C>A
ENST00000682965.1:c.2497C>A	ENSP00000508229.1:p.Arg833Ser
ENST00000683093.1:n.2668C>A
ENST00000683136.1:c.2497C>A	ENSP00000507768.1:p.Arg833Ser
ENST00000683153.1:n.2725C>A
ENST00000683365.1:n.2671C>A
ENST00000683377.1:n.2569C>A
ENST00000683456.1:c.2500C>A	ENSP00000508318.1:p.Arg834Ser
ENST00000683522.1:n.2569C>A
ENST00000683562.1:c.*669C>A	ENSP00000508265.1:n.*669C>A
ENST00000683693.1:n.2566C>A
ENST00000683725.1:c.2500C>A	ENSP00000507496.1:p.Arg834Ser
ENST00000684010.1:n.2484C>A
ENST00000684157.1:n.2569C>A
ENST00000684253.1:n.2472C>A
ENST00000684288.1:c.*672C>A	ENSP00000507143.1:n.*672C>A
ENST00000684313.1:n.2001C>A
ENST00000684332.1:n.2642C>A
ENST00000684371.1:n.2675C>A
ENST00000684404.1:n.2566C>A
ENST00000684442.1:n.2569C>A
ENST00000684555.1:c.*712C>A	ENSP00000507705.1:n.*712C>A
ENST00000684571.1:c.2341C>A	ENSP00000506935.1:p.Arg781Ser
ENST00000684593.1:c.*2205C>A	ENSP00000507005.1:n.*2205C>A
ENST00000684711.1:c.*896C>A	ENSP00000506841.1:n.*896C>A
ENST00000302539.9:c.2503C>A	ENSP00000303960.4:p.Arg835Ser
ENST00000389817.8:c.2500C>A MANE Select	ENSP00000374467.4:p.Arg834Ser
ENST00000642271.1:c.2497C>A	ENSP00000493749.1:p.Arg833Ser
ENST00000642579.1:c.584C>A
ENST00000642611.1:n.2454C>A
ENST00000642902.1:c.2335C>A
ENST00000643260.1:c.2500C>A	ENSP00000494450.1:p.Arg834Ser
ENST00000643562.1:c.*476C>A	ENSP00000496124.1:n.*476C>A
ENST00000643925.1:c.544C>A
ENST00000644447.1:c.856C>A	ENSP00000496282.1:p.Arg286Ser
ENST00000644472.1:c.*861C>A	ENSP00000495378.1:n.*861C>A
ENST00000644484.1:c.*709C>A	ENSP00000493558.1:n.*709C>A
ENST00000644542.1:c.*2205C>A	ENSP00000495532.1:n.*2205C>A
ENST00000644675.1:c.*672C>A	ENSP00000494567.1:n.*672C>A
ENST00000644757.1:c.*805C>A	ENSP00000495085.1:n.*805C>A
ENST00000644772.1:c.2566C>A	ENSP00000494321.1:p.Arg856Ser
ENST00000645076.1:c.1752C>A
ENST00000645744.1:c.*864C>A	ENSP00000494564.1:n.*864C>A
ENST00000645760.1:c.2775C>A
ENST00000645884.1:c.2500C>A	ENSP00000495516.1:p.Arg834Ser
ENST00000646003.1:c.*556C>A	ENSP00000495259.1:n.*556C>A
ENST00000646207.1:c.*864C>A	ENSP00000495025.1:n.*864C>A
ENST00000646276.1:c.*773C>A	ENSP00000496070.1:n.*773C>A
ENST00000646592.1:c.1726C>A
ENST00000646902.1:c.2497C>A	ENSP00000494101.1:p.Arg833Ser
ENST00000646993.1:c.*896C>A	ENSP00000493720.1:n.*896C>A
ENST00000647013.1:c.2506C>A	ENSP00000496741.1:n.2506C>A
ENST00000647015.1:c.2251C>A	ENSP00000495389.1:p.Arg751Ser
ENST00000647086.1:c.*2230C>A	ENSP00000493677.1:n.*2230C>A
ENST00000647158.1:c.*641C>A	ENSP00000495744.1:n.*641C>A
ENST00000302539.8:c.2503C>A	ENSP00000303960.4:p.Arg835Ser
ENST00000389817.7:c.2500C>A	ENSP00000374467.3:p.Arg834Ser
ENST00000526921.5:n.184C>A
ENST00000527905.5:c.2470C>A	ENSP00000431653.1:p.Arg824Ser
ENST00000529967.5:n.169C>A
ENST00000530147.5:n.83C>A
ENST00000531911.1:n.614C>A
NM_000352.4:c.2500C>A	NP_000343.2:p.Arg834Ser
NM_001287174.1:c.2503C>A	NP_001274103.1:p.Arg835Ser
XM_011520331.1:c.2500C>A	XP_011518633.1:p.Arg834Ser
XM_011520332.1:c.2503C>A	XP_011518634.1:p.Arg835Ser
XM_011520333.1:c.1000C>A	XP_011518635.1:p.Arg334Ser
XM_011520334.1:c.2503C>A	XP_011518636.1:p.Arg835Ser
XR_930890.1:n.2566C>A
XR_930891.1:n.2566C>A
XR_930892.1:n.2566C>A
XR_930893.1:n.2563C>A
NM_001351295.1:c.2566C>A	NP_001338224.1:p.Arg856Ser
NM_001351296.1:c.2500C>A	NP_001338225.1:p.Arg834Ser
NM_001351297.1:c.2497C>A	NP_001338226.1:p.Arg833Ser
NR_147094.1:n.2569C>A
XM_017018197.2:c.2569C>A	XP_016873686.1:p.Arg857Ser
XM_017018199.1:c.2566C>A	XP_016873688.1:p.Arg856Ser
XM_017018201.2:c.2569C>A	XP_016873690.1:p.Arg857Ser
XM_017018202.1:c.1066C>A	XP_016873691.1:p.Arg356Ser
XM_017018204.1:c.457C>A	XP_016873693.1:p.Arg153Ser
XM_024448668.1:c.868C>A	XP_024304436.1:p.Arg290Ser
XR_001747945.2:n.2641C>A
XR_001747946.2:n.2572C>A
XR_002957189.1:n.2641C>A
NM_000352.6:c.2500C>A MANE Select	NP_000343.2:p.Arg834Ser
NM_001287174.2:c.2503C>A	NP_001274103.1:p.Arg835Ser
NM_001351295.2:c.2566C>A	NP_001338224.1:p.Arg856Ser
NM_001351296.2:c.2500C>A	NP_001338225.1:p.Arg834Ser
NM_001351297.2:c.2497C>A	NP_001338226.1:p.Arg833Ser
NR_147094.2:n.2569C>A
NM_001287174.3:c.2503C>A	NP_001274103.1:p.Arg835Ser