Canonical Allele Identifier: CA379807716

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434283A>T (hg19) ; chr11:g.17412736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412736A>T , CM000673.2:g.17412736A>T	GRCh38
NC_000011.9:g.17434283A>T , CM000673.1:g.17434283A>T	GRCh37
NC_000011.8:g.17390859A>T	NCBI36
NG_008867.1:g.69167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2155T>A
ENST00000529967.6:n.745T>A
ENST00000642611.2:n.2555T>A
ENST00000682051.1:n.2502T>A
ENST00000682110.1:n.2555T>A
ENST00000682140.1:c.2483T>A	ENSP00000507829.1:p.Leu828Gln
ENST00000682185.1:n.3791T>A
ENST00000682204.1:c.*624T>A	ENSP00000507094.1:n.*624T>A
ENST00000682215.1:n.2552T>A
ENST00000682288.1:c.*917T>A	ENSP00000507506.1:n.*917T>A
ENST00000682442.1:n.2676T>A
ENST00000682528.1:n.2552T>A
ENST00000682673.1:n.2499T>A
ENST00000682805.1:n.2552T>A
ENST00000682965.1:c.2483T>A	ENSP00000508229.1:p.Leu828Gln
ENST00000683093.1:n.2654T>A
ENST00000683136.1:c.2483T>A	ENSP00000507768.1:p.Leu828Gln
ENST00000683153.1:n.2711T>A
ENST00000683365.1:n.2657T>A
ENST00000683377.1:n.2555T>A
ENST00000683456.1:c.2486T>A	ENSP00000508318.1:p.Leu829Gln
ENST00000683522.1:n.2555T>A
ENST00000683562.1:c.*655T>A	ENSP00000508265.1:n.*655T>A
ENST00000683693.1:n.2552T>A
ENST00000683725.1:c.2486T>A	ENSP00000507496.1:p.Leu829Gln
ENST00000684010.1:n.2470T>A
ENST00000684157.1:n.2555T>A
ENST00000684253.1:n.2458T>A
ENST00000684288.1:c.*658T>A	ENSP00000507143.1:n.*658T>A
ENST00000684313.1:n.1987T>A
ENST00000684332.1:n.2628T>A
ENST00000684371.1:n.2661T>A
ENST00000684404.1:n.2552T>A
ENST00000684442.1:n.2555T>A
ENST00000684555.1:c.*698T>A	ENSP00000507705.1:n.*698T>A
ENST00000684571.1:c.2327T>A	ENSP00000506935.1:p.Leu776Gln
ENST00000684593.1:c.*2191T>A	ENSP00000507005.1:n.*2191T>A
ENST00000684711.1:c.*882T>A	ENSP00000506841.1:n.*882T>A
ENST00000302539.9:c.2489T>A	ENSP00000303960.4:p.Leu830Gln
ENST00000389817.8:c.2486T>A MANE Select	ENSP00000374467.4:p.Leu829Gln
ENST00000642271.1:c.2483T>A	ENSP00000493749.1:p.Leu828Gln
ENST00000642579.1:c.570T>A
ENST00000642611.1:n.2440T>A
ENST00000642902.1:c.2321T>A
ENST00000643260.1:c.2486T>A	ENSP00000494450.1:p.Leu829Gln
ENST00000643562.1:c.*462T>A	ENSP00000496124.1:n.*462T>A
ENST00000643925.1:c.530T>A
ENST00000644447.1:c.842T>A	ENSP00000496282.1:p.Leu281Gln
ENST00000644472.1:c.*847T>A	ENSP00000495378.1:n.*847T>A
ENST00000644484.1:c.*695T>A	ENSP00000493558.1:n.*695T>A
ENST00000644542.1:c.*2191T>A	ENSP00000495532.1:n.*2191T>A
ENST00000644675.1:c.*658T>A	ENSP00000494567.1:n.*658T>A
ENST00000644757.1:c.*791T>A	ENSP00000495085.1:n.*791T>A
ENST00000644772.1:c.2552T>A	ENSP00000494321.1:p.Leu851Gln
ENST00000645076.1:c.1738T>A
ENST00000645744.1:c.*850T>A	ENSP00000494564.1:n.*850T>A
ENST00000645760.1:c.2761T>A
ENST00000645884.1:c.2486T>A	ENSP00000495516.1:p.Leu829Gln
ENST00000646003.1:c.*542T>A	ENSP00000495259.1:n.*542T>A
ENST00000646207.1:c.*850T>A	ENSP00000495025.1:n.*850T>A
ENST00000646276.1:c.*759T>A	ENSP00000496070.1:n.*759T>A
ENST00000646592.1:c.1712T>A
ENST00000646902.1:c.2483T>A	ENSP00000494101.1:p.Leu828Gln
ENST00000646993.1:c.*882T>A	ENSP00000493720.1:n.*882T>A
ENST00000647013.1:c.2492T>A	ENSP00000496741.1:n.2492T>A
ENST00000647015.1:c.2237T>A	ENSP00000495389.1:p.Leu746Gln
ENST00000647086.1:c.*2216T>A	ENSP00000493677.1:n.*2216T>A
ENST00000647158.1:c.*627T>A	ENSP00000495744.1:n.*627T>A
ENST00000302539.8:c.2489T>A	ENSP00000303960.4:p.Leu830Gln
ENST00000389817.7:c.2486T>A	ENSP00000374467.3:p.Leu829Gln
ENST00000526921.5:n.170T>A
ENST00000527905.5:c.2456T>A	ENSP00000431653.1:p.Leu819Gln
ENST00000529967.5:n.155T>A
ENST00000530147.5:n.69T>A
ENST00000531911.1:n.600T>A
NM_000352.4:c.2486T>A	NP_000343.2:p.Leu829Gln
NM_001287174.1:c.2489T>A	NP_001274103.1:p.Leu830Gln
XM_011520331.1:c.2486T>A	XP_011518633.1:p.Leu829Gln
XM_011520332.1:c.2489T>A	XP_011518634.1:p.Leu830Gln
XM_011520333.1:c.986T>A	XP_011518635.1:p.Leu329Gln
XM_011520334.1:c.2489T>A	XP_011518636.1:p.Leu830Gln
XR_930890.1:n.2552T>A
XR_930891.1:n.2552T>A
XR_930892.1:n.2552T>A
XR_930893.1:n.2549T>A
NM_001351295.1:c.2552T>A	NP_001338224.1:p.Leu851Gln
NM_001351296.1:c.2486T>A	NP_001338225.1:p.Leu829Gln
NM_001351297.1:c.2483T>A	NP_001338226.1:p.Leu828Gln
NR_147094.1:n.2555T>A
XM_017018197.2:c.2555T>A	XP_016873686.1:p.Leu852Gln
XM_017018199.1:c.2552T>A	XP_016873688.1:p.Leu851Gln
XM_017018201.2:c.2555T>A	XP_016873690.1:p.Leu852Gln
XM_017018202.1:c.1052T>A	XP_016873691.1:p.Leu351Gln
XM_017018204.1:c.443T>A	XP_016873693.1:p.Leu148Gln
XM_024448668.1:c.854T>A	XP_024304436.1:p.Leu285Gln
XR_001747945.2:n.2627T>A
XR_001747946.2:n.2558T>A
XR_002957189.1:n.2627T>A
NM_000352.6:c.2486T>A MANE Select	NP_000343.2:p.Leu829Gln
NM_001287174.2:c.2489T>A	NP_001274103.1:p.Leu830Gln
NM_001351295.2:c.2552T>A	NP_001338224.1:p.Leu851Gln
NM_001351296.2:c.2486T>A	NP_001338225.1:p.Leu829Gln
NM_001351297.2:c.2483T>A	NP_001338226.1:p.Leu828Gln
NR_147094.2:n.2555T>A
NM_001287174.3:c.2489T>A	NP_001274103.1:p.Leu830Gln