Canonical Allele Identifier: CA379807664

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434275C>T (hg19) ; chr11:g.17412728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412728C>T , CM000673.2:g.17412728C>T	GRCh38
NC_000011.9:g.17434275C>T , CM000673.1:g.17434275C>T	GRCh37
NC_000011.8:g.17390851C>T	NCBI36
NG_008867.1:g.69175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2163G>A
ENST00000529967.6:n.753G>A
ENST00000642611.2:n.2563G>A
ENST00000682051.1:n.2510G>A
ENST00000682110.1:n.2563G>A
ENST00000682140.1:c.2491G>A	ENSP00000507829.1:p.Gly831Ser
ENST00000682185.1:n.3799G>A
ENST00000682204.1:c.*632G>A	ENSP00000507094.1:n.*632G>A
ENST00000682215.1:n.2560G>A
ENST00000682288.1:c.*925G>A	ENSP00000507506.1:n.*925G>A
ENST00000682442.1:n.2684G>A
ENST00000682528.1:n.2560G>A
ENST00000682673.1:n.2507G>A
ENST00000682805.1:n.2560G>A
ENST00000682965.1:c.2491G>A	ENSP00000508229.1:p.Gly831Ser
ENST00000683093.1:n.2662G>A
ENST00000683136.1:c.2491G>A	ENSP00000507768.1:p.Gly831Ser
ENST00000683153.1:n.2719G>A
ENST00000683365.1:n.2665G>A
ENST00000683377.1:n.2563G>A
ENST00000683456.1:c.2494G>A	ENSP00000508318.1:p.Gly832Ser
ENST00000683522.1:n.2563G>A
ENST00000683562.1:c.*663G>A	ENSP00000508265.1:n.*663G>A
ENST00000683693.1:n.2560G>A
ENST00000683725.1:c.2494G>A	ENSP00000507496.1:p.Gly832Ser
ENST00000684010.1:n.2478G>A
ENST00000684157.1:n.2563G>A
ENST00000684253.1:n.2466G>A
ENST00000684288.1:c.*666G>A	ENSP00000507143.1:n.*666G>A
ENST00000684313.1:n.1995G>A
ENST00000684332.1:n.2636G>A
ENST00000684371.1:n.2669G>A
ENST00000684404.1:n.2560G>A
ENST00000684442.1:n.2563G>A
ENST00000684555.1:c.*706G>A	ENSP00000507705.1:n.*706G>A
ENST00000684571.1:c.2335G>A	ENSP00000506935.1:p.Gly779Ser
ENST00000684593.1:c.*2199G>A	ENSP00000507005.1:n.*2199G>A
ENST00000684711.1:c.*890G>A	ENSP00000506841.1:n.*890G>A
ENST00000302539.9:c.2497G>A	ENSP00000303960.4:p.Gly833Ser
ENST00000389817.8:c.2494G>A MANE Select	ENSP00000374467.4:p.Gly832Ser
ENST00000642271.1:c.2491G>A	ENSP00000493749.1:p.Gly831Ser
ENST00000642579.1:c.578G>A
ENST00000642611.1:n.2448G>A
ENST00000642902.1:c.2329G>A
ENST00000643260.1:c.2494G>A	ENSP00000494450.1:p.Gly832Ser
ENST00000643562.1:c.*470G>A	ENSP00000496124.1:n.*470G>A
ENST00000643925.1:c.538G>A
ENST00000644447.1:c.850G>A	ENSP00000496282.1:p.Gly284Ser
ENST00000644472.1:c.*855G>A	ENSP00000495378.1:n.*855G>A
ENST00000644484.1:c.*703G>A	ENSP00000493558.1:n.*703G>A
ENST00000644542.1:c.*2199G>A	ENSP00000495532.1:n.*2199G>A
ENST00000644675.1:c.*666G>A	ENSP00000494567.1:n.*666G>A
ENST00000644757.1:c.*799G>A	ENSP00000495085.1:n.*799G>A
ENST00000644772.1:c.2560G>A	ENSP00000494321.1:p.Gly854Ser
ENST00000645076.1:c.1746G>A
ENST00000645744.1:c.*858G>A	ENSP00000494564.1:n.*858G>A
ENST00000645760.1:c.2769G>A
ENST00000645884.1:c.2494G>A	ENSP00000495516.1:p.Gly832Ser
ENST00000646003.1:c.*550G>A	ENSP00000495259.1:n.*550G>A
ENST00000646207.1:c.*858G>A	ENSP00000495025.1:n.*858G>A
ENST00000646276.1:c.*767G>A	ENSP00000496070.1:n.*767G>A
ENST00000646592.1:c.1720G>A
ENST00000646902.1:c.2491G>A	ENSP00000494101.1:p.Gly831Ser
ENST00000646993.1:c.*890G>A	ENSP00000493720.1:n.*890G>A
ENST00000647013.1:c.2500G>A	ENSP00000496741.1:n.2500G>A
ENST00000647015.1:c.2245G>A	ENSP00000495389.1:p.Gly749Ser
ENST00000647086.1:c.*2224G>A	ENSP00000493677.1:n.*2224G>A
ENST00000647158.1:c.*635G>A	ENSP00000495744.1:n.*635G>A
ENST00000302539.8:c.2497G>A	ENSP00000303960.4:p.Gly833Ser
ENST00000389817.7:c.2494G>A	ENSP00000374467.3:p.Gly832Ser
ENST00000526921.5:n.178G>A
ENST00000527905.5:c.2464G>A	ENSP00000431653.1:p.Gly822Ser
ENST00000529967.5:n.163G>A
ENST00000530147.5:n.77G>A
ENST00000531911.1:n.608G>A
NM_000352.4:c.2494G>A	NP_000343.2:p.Gly832Ser
NM_001287174.1:c.2497G>A	NP_001274103.1:p.Gly833Ser
XM_011520331.1:c.2494G>A	XP_011518633.1:p.Gly832Ser
XM_011520332.1:c.2497G>A	XP_011518634.1:p.Gly833Ser
XM_011520333.1:c.994G>A	XP_011518635.1:p.Gly332Ser
XM_011520334.1:c.2497G>A	XP_011518636.1:p.Gly833Ser
XR_930890.1:n.2560G>A
XR_930891.1:n.2560G>A
XR_930892.1:n.2560G>A
XR_930893.1:n.2557G>A
NM_001351295.1:c.2560G>A	NP_001338224.1:p.Gly854Ser
NM_001351296.1:c.2494G>A	NP_001338225.1:p.Gly832Ser
NM_001351297.1:c.2491G>A	NP_001338226.1:p.Gly831Ser
NR_147094.1:n.2563G>A
XM_017018197.2:c.2563G>A	XP_016873686.1:p.Gly855Ser
XM_017018199.1:c.2560G>A	XP_016873688.1:p.Gly854Ser
XM_017018201.2:c.2563G>A	XP_016873690.1:p.Gly855Ser
XM_017018202.1:c.1060G>A	XP_016873691.1:p.Gly354Ser
XM_017018204.1:c.451G>A	XP_016873693.1:p.Gly151Ser
XM_024448668.1:c.862G>A	XP_024304436.1:p.Gly288Ser
XR_001747945.2:n.2635G>A
XR_001747946.2:n.2566G>A
XR_002957189.1:n.2635G>A
NM_000352.6:c.2494G>A MANE Select	NP_000343.2:p.Gly832Ser
NM_001287174.2:c.2497G>A	NP_001274103.1:p.Gly833Ser
NM_001351295.2:c.2560G>A	NP_001338224.1:p.Gly854Ser
NM_001351296.2:c.2494G>A	NP_001338225.1:p.Gly832Ser
NM_001351297.2:c.2491G>A	NP_001338226.1:p.Gly831Ser
NR_147094.2:n.2563G>A
NM_001287174.3:c.2497G>A	NP_001274103.1:p.Gly833Ser