Canonical Allele Identifier: CA379807491

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434253A>C (hg19) ; chr11:g.17412706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412706A>C , CM000673.2:g.17412706A>C	GRCh38
NC_000011.9:g.17434253A>C , CM000673.1:g.17434253A>C	GRCh37
NC_000011.8:g.17390829A>C	NCBI36
NG_008867.1:g.69197T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2185T>G
ENST00000529967.6:n.775T>G
ENST00000642611.2:n.2585T>G
ENST00000682051.1:n.2532T>G
ENST00000682110.1:n.2585T>G
ENST00000682140.1:c.2513T>G	ENSP00000507829.1:p.Val838Gly
ENST00000682185.1:n.3821T>G
ENST00000682204.1:c.*654T>G	ENSP00000507094.1:n.*654T>G
ENST00000682215.1:n.2582T>G
ENST00000682288.1:c.*947T>G	ENSP00000507506.1:n.*947T>G
ENST00000682442.1:n.2706T>G
ENST00000682528.1:n.2582T>G
ENST00000682673.1:n.2529T>G
ENST00000682805.1:n.2582T>G
ENST00000682965.1:c.2513T>G	ENSP00000508229.1:p.Val838Gly
ENST00000683093.1:n.2684T>G
ENST00000683136.1:c.2513T>G	ENSP00000507768.1:p.Val838Gly
ENST00000683153.1:n.2741T>G
ENST00000683365.1:n.2687T>G
ENST00000683377.1:n.2585T>G
ENST00000683456.1:c.2516T>G	ENSP00000508318.1:p.Val839Gly
ENST00000683522.1:n.2585T>G
ENST00000683562.1:c.*685T>G	ENSP00000508265.1:n.*685T>G
ENST00000683693.1:n.2582T>G
ENST00000683725.1:c.2516T>G	ENSP00000507496.1:p.Val839Gly
ENST00000684010.1:n.2500T>G
ENST00000684157.1:n.2585T>G
ENST00000684253.1:n.2488T>G
ENST00000684288.1:c.*688T>G	ENSP00000507143.1:n.*688T>G
ENST00000684313.1:n.2017T>G
ENST00000684332.1:n.2658T>G
ENST00000684371.1:n.2691T>G
ENST00000684404.1:n.2582T>G
ENST00000684442.1:n.2585T>G
ENST00000684555.1:c.*728T>G	ENSP00000507705.1:n.*728T>G
ENST00000684571.1:c.2357T>G	ENSP00000506935.1:p.Val786Gly
ENST00000684593.1:c.*2221T>G	ENSP00000507005.1:n.*2221T>G
ENST00000684711.1:c.*912T>G	ENSP00000506841.1:n.*912T>G
ENST00000302539.9:c.2519T>G	ENSP00000303960.4:p.Val840Gly
ENST00000389817.8:c.2516T>G MANE Select	ENSP00000374467.4:p.Val839Gly
ENST00000642271.1:c.2513T>G	ENSP00000493749.1:p.Val838Gly
ENST00000642579.1:c.600T>G
ENST00000642611.1:n.2470T>G
ENST00000642902.1:c.2351T>G
ENST00000643260.1:c.2516T>G	ENSP00000494450.1:p.Val839Gly
ENST00000643562.1:c.*492T>G	ENSP00000496124.1:n.*492T>G
ENST00000643925.1:c.560T>G
ENST00000644447.1:c.872T>G	ENSP00000496282.1:p.Val291Gly
ENST00000644472.1:c.*877T>G	ENSP00000495378.1:n.*877T>G
ENST00000644484.1:c.*725T>G	ENSP00000493558.1:n.*725T>G
ENST00000644542.1:c.*2221T>G	ENSP00000495532.1:n.*2221T>G
ENST00000644675.1:c.*688T>G	ENSP00000494567.1:n.*688T>G
ENST00000644757.1:c.*821T>G	ENSP00000495085.1:n.*821T>G
ENST00000644772.1:c.2582T>G	ENSP00000494321.1:p.Val861Gly
ENST00000645076.1:c.1768T>G
ENST00000645744.1:c.*880T>G	ENSP00000494564.1:n.*880T>G
ENST00000645760.1:c.2791T>G
ENST00000645884.1:c.2516T>G	ENSP00000495516.1:p.Val839Gly
ENST00000646003.1:c.*572T>G	ENSP00000495259.1:n.*572T>G
ENST00000646207.1:c.*880T>G	ENSP00000495025.1:n.*880T>G
ENST00000646276.1:c.*789T>G	ENSP00000496070.1:n.*789T>G
ENST00000646592.1:c.1742T>G
ENST00000646902.1:c.2513T>G	ENSP00000494101.1:p.Val838Gly
ENST00000646993.1:c.*912T>G	ENSP00000493720.1:n.*912T>G
ENST00000647013.1:c.2522T>G	ENSP00000496741.1:n.2522T>G
ENST00000647015.1:c.2267T>G	ENSP00000495389.1:p.Val756Gly
ENST00000647086.1:c.*2246T>G	ENSP00000493677.1:n.*2246T>G
ENST00000647158.1:c.*657T>G	ENSP00000495744.1:n.*657T>G
ENST00000302539.8:c.2519T>G	ENSP00000303960.4:p.Val840Gly
ENST00000389817.7:c.2516T>G	ENSP00000374467.3:p.Val839Gly
ENST00000526921.5:n.200T>G
ENST00000527905.5:c.2486T>G	ENSP00000431653.1:p.Val829Gly
ENST00000529967.5:n.185T>G
ENST00000530147.5:n.99T>G
ENST00000531911.1:n.630T>G
NM_000352.4:c.2516T>G	NP_000343.2:p.Val839Gly
NM_001287174.1:c.2519T>G	NP_001274103.1:p.Val840Gly
XM_011520331.1:c.2516T>G	XP_011518633.1:p.Val839Gly
XM_011520332.1:c.2519T>G	XP_011518634.1:p.Val840Gly
XM_011520333.1:c.1016T>G	XP_011518635.1:p.Val339Gly
XM_011520334.1:c.2519T>G	XP_011518636.1:p.Val840Gly
XR_930890.1:n.2582T>G
XR_930891.1:n.2582T>G
XR_930892.1:n.2582T>G
XR_930893.1:n.2579T>G
NM_001351295.1:c.2582T>G	NP_001338224.1:p.Val861Gly
NM_001351296.1:c.2516T>G	NP_001338225.1:p.Val839Gly
NM_001351297.1:c.2513T>G	NP_001338226.1:p.Val838Gly
NR_147094.1:n.2585T>G
XM_017018197.2:c.2585T>G	XP_016873686.1:p.Val862Gly
XM_017018199.1:c.2582T>G	XP_016873688.1:p.Val861Gly
XM_017018201.2:c.2585T>G	XP_016873690.1:p.Val862Gly
XM_017018202.1:c.1082T>G	XP_016873691.1:p.Val361Gly
XM_017018204.1:c.473T>G	XP_016873693.1:p.Val158Gly
XM_024448668.1:c.884T>G	XP_024304436.1:p.Val295Gly
XR_001747945.2:n.2657T>G
XR_001747946.2:n.2588T>G
XR_002957189.1:n.2657T>G
NM_000352.6:c.2516T>G MANE Select	NP_000343.2:p.Val839Gly
NM_001287174.2:c.2519T>G	NP_001274103.1:p.Val840Gly
NM_001351295.2:c.2582T>G	NP_001338224.1:p.Val861Gly
NM_001351296.2:c.2516T>G	NP_001338225.1:p.Val839Gly
NM_001351297.2:c.2513T>G	NP_001338226.1:p.Val838Gly
NR_147094.2:n.2585T>G
NM_001287174.3:c.2519T>G	NP_001274103.1:p.Val840Gly