Canonical Allele Identifier: CA379807441

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412692-A-C
• MyVariant Identifiers: chr11:g.17434239A>C (hg19) ; chr11:g.17412692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412692A>C , CM000673.2:g.17412692A>C	GRCh38
NC_000011.9:g.17434239A>C , CM000673.1:g.17434239A>C	GRCh37
NC_000011.8:g.17390815A>C	NCBI36
NG_008867.1:g.69211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2199T>G
ENST00000529967.6:n.789T>G
ENST00000642611.2:n.2599T>G
ENST00000682051.1:n.2546T>G
ENST00000682110.1:n.2599T>G
ENST00000682140.1:c.2527T>G	ENSP00000507829.1:p.Tyr843Asp
ENST00000682185.1:n.3835T>G
ENST00000682204.1:c.*668T>G	ENSP00000507094.1:n.*668T>G
ENST00000682215.1:n.2596T>G
ENST00000682288.1:c.*961T>G	ENSP00000507506.1:n.*961T>G
ENST00000682442.1:n.2720T>G
ENST00000682528.1:n.2596T>G
ENST00000682673.1:n.2543T>G
ENST00000682805.1:n.2596T>G
ENST00000682965.1:c.2527T>G	ENSP00000508229.1:p.Tyr843Asp
ENST00000683093.1:n.2698T>G
ENST00000683136.1:c.2527T>G	ENSP00000507768.1:p.Tyr843Asp
ENST00000683153.1:n.2755T>G
ENST00000683365.1:n.2701T>G
ENST00000683377.1:n.2599T>G
ENST00000683456.1:c.2530T>G	ENSP00000508318.1:p.Tyr844Asp
ENST00000683522.1:n.2599T>G
ENST00000683562.1:c.*699T>G	ENSP00000508265.1:n.*699T>G
ENST00000683693.1:n.2596T>G
ENST00000683725.1:c.2530T>G	ENSP00000507496.1:p.Tyr844Asp
ENST00000684010.1:n.2514T>G
ENST00000684157.1:n.2599T>G
ENST00000684253.1:n.2502T>G
ENST00000684288.1:c.*702T>G	ENSP00000507143.1:n.*702T>G
ENST00000684313.1:n.2031T>G
ENST00000684332.1:n.2672T>G
ENST00000684371.1:n.2705T>G
ENST00000684404.1:n.2596T>G
ENST00000684442.1:n.2599T>G
ENST00000684555.1:c.*742T>G	ENSP00000507705.1:n.*742T>G
ENST00000684571.1:c.2371T>G	ENSP00000506935.1:p.Tyr791Asp
ENST00000684593.1:c.*2235T>G	ENSP00000507005.1:n.*2235T>G
ENST00000684711.1:c.*926T>G	ENSP00000506841.1:n.*926T>G
ENST00000302539.9:c.2533T>G	ENSP00000303960.4:p.Tyr845Asp
ENST00000389817.8:c.2530T>G MANE Select	ENSP00000374467.4:p.Tyr844Asp
ENST00000642271.1:c.2527T>G	ENSP00000493749.1:p.Tyr843Asp
ENST00000642579.1:c.614T>G
ENST00000642611.1:n.2484T>G
ENST00000642902.1:c.2365T>G
ENST00000643260.1:c.2530T>G	ENSP00000494450.1:p.Tyr844Asp
ENST00000643562.1:c.*506T>G	ENSP00000496124.1:n.*506T>G
ENST00000643925.1:c.574T>G
ENST00000644447.1:c.886T>G	ENSP00000496282.1:p.Tyr296Asp
ENST00000644472.1:c.*891T>G	ENSP00000495378.1:n.*891T>G
ENST00000644484.1:c.*739T>G	ENSP00000493558.1:n.*739T>G
ENST00000644542.1:c.*2235T>G	ENSP00000495532.1:n.*2235T>G
ENST00000644675.1:c.*702T>G	ENSP00000494567.1:n.*702T>G
ENST00000644757.1:c.*835T>G	ENSP00000495085.1:n.*835T>G
ENST00000644772.1:c.2596T>G	ENSP00000494321.1:p.Tyr866Asp
ENST00000645076.1:c.1782T>G
ENST00000645744.1:c.*894T>G	ENSP00000494564.1:n.*894T>G
ENST00000645760.1:c.2805T>G
ENST00000645884.1:c.2530T>G	ENSP00000495516.1:p.Tyr844Asp
ENST00000646003.1:c.*586T>G	ENSP00000495259.1:n.*586T>G
ENST00000646207.1:c.*894T>G	ENSP00000495025.1:n.*894T>G
ENST00000646276.1:c.*803T>G	ENSP00000496070.1:n.*803T>G
ENST00000646592.1:c.1756T>G
ENST00000646902.1:c.2527T>G	ENSP00000494101.1:p.Tyr843Asp
ENST00000646993.1:c.*926T>G	ENSP00000493720.1:n.*926T>G
ENST00000647013.1:c.2536T>G	ENSP00000496741.1:n.2536T>G
ENST00000647015.1:c.2281T>G	ENSP00000495389.1:p.Tyr761Asp
ENST00000647086.1:c.*2260T>G	ENSP00000493677.1:n.*2260T>G
ENST00000647158.1:c.*671T>G	ENSP00000495744.1:n.*671T>G
ENST00000302539.8:c.2533T>G	ENSP00000303960.4:p.Tyr845Asp
ENST00000389817.7:c.2530T>G	ENSP00000374467.3:p.Tyr844Asp
ENST00000526921.5:n.214T>G
ENST00000527905.5:c.2500T>G	ENSP00000431653.1:p.Tyr834Asp
ENST00000529967.5:n.199T>G
ENST00000530147.5:n.113T>G
ENST00000531911.1:n.644T>G
NM_000352.4:c.2530T>G	NP_000343.2:p.Tyr844Asp
NM_001287174.1:c.2533T>G	NP_001274103.1:p.Tyr845Asp
XM_011520331.1:c.2530T>G	XP_011518633.1:p.Tyr844Asp
XM_011520332.1:c.2533T>G	XP_011518634.1:p.Tyr845Asp
XM_011520333.1:c.1030T>G	XP_011518635.1:p.Tyr344Asp
XM_011520334.1:c.2533T>G	XP_011518636.1:p.Tyr845Asp
XR_930890.1:n.2596T>G
XR_930891.1:n.2596T>G
XR_930892.1:n.2596T>G
XR_930893.1:n.2593T>G
NM_001351295.1:c.2596T>G	NP_001338224.1:p.Tyr866Asp
NM_001351296.1:c.2530T>G	NP_001338225.1:p.Tyr844Asp
NM_001351297.1:c.2527T>G	NP_001338226.1:p.Tyr843Asp
NR_147094.1:n.2599T>G
XM_017018197.2:c.2599T>G	XP_016873686.1:p.Tyr867Asp
XM_017018199.1:c.2596T>G	XP_016873688.1:p.Tyr866Asp
XM_017018201.2:c.2599T>G	XP_016873690.1:p.Tyr867Asp
XM_017018202.1:c.1096T>G	XP_016873691.1:p.Tyr366Asp
XM_017018204.1:c.487T>G	XP_016873693.1:p.Tyr163Asp
XM_024448668.1:c.898T>G	XP_024304436.1:p.Tyr300Asp
XR_001747945.2:n.2671T>G
XR_001747946.2:n.2602T>G
XR_002957189.1:n.2671T>G
NM_000352.6:c.2530T>G MANE Select	NP_000343.2:p.Tyr844Asp
NM_001287174.2:c.2533T>G	NP_001274103.1:p.Tyr845Asp
NM_001351295.2:c.2596T>G	NP_001338224.1:p.Tyr866Asp
NM_001351296.2:c.2530T>G	NP_001338225.1:p.Tyr844Asp
NM_001351297.2:c.2527T>G	NP_001338226.1:p.Tyr843Asp
NR_147094.2:n.2599T>G
NM_001287174.3:c.2533T>G	NP_001274103.1:p.Tyr845Asp