Canonical Allele Identifier: CA379807334

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434215A>T (hg19) ; chr11:g.17412668A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412668A>T , CM000673.2:g.17412668A>T	GRCh38
NC_000011.9:g.17434215A>T , CM000673.1:g.17434215A>T	GRCh37
NC_000011.8:g.17390791A>T	NCBI36
NG_008867.1:g.69235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2223T>A
ENST00000529967.6:n.813T>A
ENST00000642611.2:n.2623T>A
ENST00000682051.1:n.2570T>A
ENST00000682110.1:n.2623T>A
ENST00000682140.1:c.2551T>A	ENSP00000507829.1:p.Leu851Met
ENST00000682185.1:n.3859T>A
ENST00000682204.1:c.*692T>A	ENSP00000507094.1:n.*692T>A
ENST00000682215.1:n.2620T>A
ENST00000682288.1:c.*985T>A	ENSP00000507506.1:n.*985T>A
ENST00000682442.1:n.2744T>A
ENST00000682528.1:n.2620T>A
ENST00000682673.1:n.2567T>A
ENST00000682805.1:n.2620T>A
ENST00000682965.1:c.2551T>A	ENSP00000508229.1:p.Leu851Met
ENST00000683093.1:n.2722T>A
ENST00000683136.1:c.2551T>A	ENSP00000507768.1:p.Leu851Met
ENST00000683153.1:n.2779T>A
ENST00000683365.1:n.2725T>A
ENST00000683377.1:n.2623T>A
ENST00000683456.1:c.2554T>A	ENSP00000508318.1:p.Leu852Met
ENST00000683522.1:n.2623T>A
ENST00000683562.1:c.*723T>A	ENSP00000508265.1:n.*723T>A
ENST00000683693.1:n.2620T>A
ENST00000683725.1:c.2554T>A	ENSP00000507496.1:p.Leu852Met
ENST00000684010.1:n.2538T>A
ENST00000684157.1:n.2623T>A
ENST00000684253.1:n.2526T>A
ENST00000684288.1:c.*726T>A	ENSP00000507143.1:n.*726T>A
ENST00000684313.1:n.2055T>A
ENST00000684332.1:n.2696T>A
ENST00000684371.1:n.2729T>A
ENST00000684404.1:n.2620T>A
ENST00000684442.1:n.2623T>A
ENST00000684555.1:c.*766T>A	ENSP00000507705.1:n.*766T>A
ENST00000684571.1:c.2395T>A	ENSP00000506935.1:p.Leu799Met
ENST00000684593.1:c.*2259T>A	ENSP00000507005.1:n.*2259T>A
ENST00000684711.1:c.*950T>A	ENSP00000506841.1:n.*950T>A
ENST00000302539.9:c.2557T>A	ENSP00000303960.4:p.Leu853Met
ENST00000389817.8:c.2554T>A MANE Select	ENSP00000374467.4:p.Leu852Met
ENST00000642271.1:c.2551T>A	ENSP00000493749.1:p.Leu851Met
ENST00000642579.1:c.638T>A
ENST00000642611.1:n.2508T>A
ENST00000642902.1:c.2389T>A
ENST00000643260.1:c.2554T>A	ENSP00000494450.1:p.Leu852Met
ENST00000643562.1:c.*530T>A	ENSP00000496124.1:n.*530T>A
ENST00000643925.1:c.598T>A
ENST00000644447.1:c.910T>A	ENSP00000496282.1:p.Leu304Met
ENST00000644472.1:c.*915T>A	ENSP00000495378.1:n.*915T>A
ENST00000644484.1:c.*763T>A	ENSP00000493558.1:n.*763T>A
ENST00000644542.1:c.*2259T>A	ENSP00000495532.1:n.*2259T>A
ENST00000644675.1:c.*726T>A	ENSP00000494567.1:n.*726T>A
ENST00000644757.1:c.*859T>A	ENSP00000495085.1:n.*859T>A
ENST00000644772.1:c.2620T>A	ENSP00000494321.1:p.Leu874Met
ENST00000645076.1:c.1806T>A
ENST00000645744.1:c.*918T>A	ENSP00000494564.1:n.*918T>A
ENST00000645760.1:c.2829T>A
ENST00000645884.1:c.2554T>A	ENSP00000495516.1:p.Leu852Met
ENST00000646003.1:c.*610T>A	ENSP00000495259.1:n.*610T>A
ENST00000646207.1:c.*918T>A	ENSP00000495025.1:n.*918T>A
ENST00000646276.1:c.*827T>A	ENSP00000496070.1:n.*827T>A
ENST00000646592.1:c.1780T>A
ENST00000646902.1:c.2551T>A	ENSP00000494101.1:p.Leu851Met
ENST00000646993.1:c.*950T>A	ENSP00000493720.1:n.*950T>A
ENST00000647013.1:c.2560T>A	ENSP00000496741.1:n.2560T>A
ENST00000647015.1:c.2305T>A	ENSP00000495389.1:p.Leu769Met
ENST00000647086.1:c.*2284T>A	ENSP00000493677.1:n.*2284T>A
ENST00000647158.1:c.*695T>A	ENSP00000495744.1:n.*695T>A
ENST00000302539.8:c.2557T>A	ENSP00000303960.4:p.Leu853Met
ENST00000389817.7:c.2554T>A	ENSP00000374467.3:p.Leu852Met
ENST00000526921.5:n.238T>A
ENST00000527905.5:c.2524T>A	ENSP00000431653.1:p.Leu842Met
ENST00000529967.5:n.223T>A
ENST00000530147.5:n.137T>A
ENST00000531911.1:n.668T>A
NM_000352.4:c.2554T>A	NP_000343.2:p.Leu852Met
NM_001287174.1:c.2557T>A	NP_001274103.1:p.Leu853Met
XM_011520331.1:c.2554T>A	XP_011518633.1:p.Leu852Met
XM_011520332.1:c.2557T>A	XP_011518634.1:p.Leu853Met
XM_011520333.1:c.1054T>A	XP_011518635.1:p.Leu352Met
XM_011520334.1:c.2557T>A	XP_011518636.1:p.Leu853Met
XR_930890.1:n.2620T>A
XR_930891.1:n.2620T>A
XR_930892.1:n.2620T>A
XR_930893.1:n.2617T>A
NM_001351295.1:c.2620T>A	NP_001338224.1:p.Leu874Met
NM_001351296.1:c.2554T>A	NP_001338225.1:p.Leu852Met
NM_001351297.1:c.2551T>A	NP_001338226.1:p.Leu851Met
NR_147094.1:n.2623T>A
XM_017018197.2:c.2623T>A	XP_016873686.1:p.Leu875Met
XM_017018199.1:c.2620T>A	XP_016873688.1:p.Leu874Met
XM_017018201.2:c.2623T>A	XP_016873690.1:p.Leu875Met
XM_017018202.1:c.1120T>A	XP_016873691.1:p.Leu374Met
XM_017018204.1:c.511T>A	XP_016873693.1:p.Leu171Met
XM_024448668.1:c.922T>A	XP_024304436.1:p.Leu308Met
XR_001747945.2:n.2695T>A
XR_001747946.2:n.2626T>A
XR_002957189.1:n.2695T>A
NM_000352.6:c.2554T>A MANE Select	NP_000343.2:p.Leu852Met
NM_001287174.2:c.2557T>A	NP_001274103.1:p.Leu853Met
NM_001351295.2:c.2620T>A	NP_001338224.1:p.Leu874Met
NM_001351296.2:c.2554T>A	NP_001338225.1:p.Leu852Met
NM_001351297.2:c.2551T>A	NP_001338226.1:p.Leu851Met
NR_147094.2:n.2623T>A
NM_001287174.3:c.2557T>A	NP_001274103.1:p.Leu853Met