Canonical Allele Identifier: CA379807780

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434292C>A (hg19) ; chr11:g.17412745C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412745C>A , CM000673.2:g.17412745C>A	GRCh38
NC_000011.9:g.17434292C>A , CM000673.1:g.17434292C>A	GRCh37
NC_000011.8:g.17390868C>A	NCBI36
NG_008867.1:g.69158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2146G>T
ENST00000529967.6:n.736G>T
ENST00000642611.2:n.2546G>T
ENST00000682051.1:n.2493G>T
ENST00000682110.1:n.2546G>T
ENST00000682140.1:c.2474G>T	ENSP00000507829.1:p.Gly825Val
ENST00000682185.1:n.3782G>T
ENST00000682204.1:c.*615G>T	ENSP00000507094.1:n.*615G>T
ENST00000682215.1:n.2543G>T
ENST00000682288.1:c.*908G>T	ENSP00000507506.1:n.*908G>T
ENST00000682442.1:n.2667G>T
ENST00000682528.1:n.2543G>T
ENST00000682673.1:n.2490G>T
ENST00000682805.1:n.2543G>T
ENST00000682965.1:c.2474G>T	ENSP00000508229.1:p.Gly825Val
ENST00000683093.1:n.2645G>T
ENST00000683136.1:c.2474G>T	ENSP00000507768.1:p.Gly825Val
ENST00000683153.1:n.2702G>T
ENST00000683365.1:n.2648G>T
ENST00000683377.1:n.2546G>T
ENST00000683456.1:c.2477G>T	ENSP00000508318.1:p.Gly826Val
ENST00000683522.1:n.2546G>T
ENST00000683562.1:c.*646G>T	ENSP00000508265.1:n.*646G>T
ENST00000683693.1:n.2543G>T
ENST00000683725.1:c.2477G>T	ENSP00000507496.1:p.Gly826Val
ENST00000684010.1:n.2461G>T
ENST00000684157.1:n.2546G>T
ENST00000684253.1:n.2449G>T
ENST00000684288.1:c.*649G>T	ENSP00000507143.1:n.*649G>T
ENST00000684313.1:n.1978G>T
ENST00000684332.1:n.2619G>T
ENST00000684371.1:n.2652G>T
ENST00000684404.1:n.2543G>T
ENST00000684442.1:n.2546G>T
ENST00000684555.1:c.*689G>T	ENSP00000507705.1:n.*689G>T
ENST00000684571.1:c.2318G>T	ENSP00000506935.1:p.Gly773Val
ENST00000684593.1:c.*2182G>T	ENSP00000507005.1:n.*2182G>T
ENST00000684711.1:c.*873G>T	ENSP00000506841.1:n.*873G>T
ENST00000302539.9:c.2480G>T	ENSP00000303960.4:p.Gly827Val
ENST00000389817.8:c.2477G>T MANE Select	ENSP00000374467.4:p.Gly826Val
ENST00000642271.1:c.2474G>T	ENSP00000493749.1:p.Gly825Val
ENST00000642579.1:c.561G>T
ENST00000642611.1:n.2431G>T
ENST00000642902.1:c.2312G>T
ENST00000643260.1:c.2477G>T	ENSP00000494450.1:p.Gly826Val
ENST00000643562.1:c.*453G>T	ENSP00000496124.1:n.*453G>T
ENST00000643925.1:c.521G>T
ENST00000644447.1:c.833G>T	ENSP00000496282.1:p.Gly278Val
ENST00000644472.1:c.*838G>T	ENSP00000495378.1:n.*838G>T
ENST00000644484.1:c.*686G>T	ENSP00000493558.1:n.*686G>T
ENST00000644542.1:c.*2182G>T	ENSP00000495532.1:n.*2182G>T
ENST00000644675.1:c.*649G>T	ENSP00000494567.1:n.*649G>T
ENST00000644757.1:c.*782G>T	ENSP00000495085.1:n.*782G>T
ENST00000644772.1:c.2543G>T	ENSP00000494321.1:p.Gly848Val
ENST00000645076.1:c.1729G>T
ENST00000645744.1:c.*841G>T	ENSP00000494564.1:n.*841G>T
ENST00000645760.1:c.2752G>T
ENST00000645884.1:c.2477G>T	ENSP00000495516.1:p.Gly826Val
ENST00000646003.1:c.*533G>T	ENSP00000495259.1:n.*533G>T
ENST00000646207.1:c.*841G>T	ENSP00000495025.1:n.*841G>T
ENST00000646276.1:c.*750G>T	ENSP00000496070.1:n.*750G>T
ENST00000646592.1:c.1703G>T
ENST00000646902.1:c.2474G>T	ENSP00000494101.1:p.Gly825Val
ENST00000646993.1:c.*873G>T	ENSP00000493720.1:n.*873G>T
ENST00000647013.1:c.2483G>T	ENSP00000496741.1:n.2483G>T
ENST00000647015.1:c.2228G>T	ENSP00000495389.1:p.Gly743Val
ENST00000647086.1:c.*2207G>T	ENSP00000493677.1:n.*2207G>T
ENST00000647158.1:c.*618G>T	ENSP00000495744.1:n.*618G>T
ENST00000302539.8:c.2480G>T	ENSP00000303960.4:p.Gly827Val
ENST00000389817.7:c.2477G>T	ENSP00000374467.3:p.Gly826Val
ENST00000526921.5:n.161G>T
ENST00000527905.5:c.2447G>T	ENSP00000431653.1:p.Gly816Val
ENST00000529967.5:n.146G>T
ENST00000530147.5:n.60G>T
ENST00000531911.1:n.591G>T
NM_000352.4:c.2477G>T	NP_000343.2:p.Gly826Val
NM_001287174.1:c.2480G>T	NP_001274103.1:p.Gly827Val
XM_011520331.1:c.2477G>T	XP_011518633.1:p.Gly826Val
XM_011520332.1:c.2480G>T	XP_011518634.1:p.Gly827Val
XM_011520333.1:c.977G>T	XP_011518635.1:p.Gly326Val
XM_011520334.1:c.2480G>T	XP_011518636.1:p.Gly827Val
XR_930890.1:n.2543G>T
XR_930891.1:n.2543G>T
XR_930892.1:n.2543G>T
XR_930893.1:n.2540G>T
NM_001351295.1:c.2543G>T	NP_001338224.1:p.Gly848Val
NM_001351296.1:c.2477G>T	NP_001338225.1:p.Gly826Val
NM_001351297.1:c.2474G>T	NP_001338226.1:p.Gly825Val
NR_147094.1:n.2546G>T
XM_017018197.2:c.2546G>T	XP_016873686.1:p.Gly849Val
XM_017018199.1:c.2543G>T	XP_016873688.1:p.Gly848Val
XM_017018201.2:c.2546G>T	XP_016873690.1:p.Gly849Val
XM_017018202.1:c.1043G>T	XP_016873691.1:p.Gly348Val
XM_017018204.1:c.434G>T	XP_016873693.1:p.Gly145Val
XM_024448668.1:c.845G>T	XP_024304436.1:p.Gly282Val
XR_001747945.2:n.2618G>T
XR_001747946.2:n.2549G>T
XR_002957189.1:n.2618G>T
NM_000352.6:c.2477G>T MANE Select	NP_000343.2:p.Gly826Val
NM_001287174.2:c.2480G>T	NP_001274103.1:p.Gly827Val
NM_001351295.2:c.2543G>T	NP_001338224.1:p.Gly848Val
NM_001351296.2:c.2477G>T	NP_001338225.1:p.Gly826Val
NM_001351297.2:c.2474G>T	NP_001338226.1:p.Gly825Val
NR_147094.2:n.2546G>T
NM_001287174.3:c.2480G>T	NP_001274103.1:p.Gly827Val