Canonical Allele Identifier: CA379807347

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434218A>G (hg19) ; chr11:g.17412671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412671A>G , CM000673.2:g.17412671A>G	GRCh38
NC_000011.9:g.17434218A>G , CM000673.1:g.17434218A>G	GRCh37
NC_000011.8:g.17390794A>G	NCBI36
NG_008867.1:g.69232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2220T>C
ENST00000529967.6:n.810T>C
ENST00000642611.2:n.2620T>C
ENST00000682051.1:n.2567T>C
ENST00000682110.1:n.2620T>C
ENST00000682140.1:c.2548T>C	ENSP00000507829.1:p.Phe850Leu
ENST00000682185.1:n.3856T>C
ENST00000682204.1:c.*689T>C	ENSP00000507094.1:n.*689T>C
ENST00000682215.1:n.2617T>C
ENST00000682288.1:c.*982T>C	ENSP00000507506.1:n.*982T>C
ENST00000682442.1:n.2741T>C
ENST00000682528.1:n.2617T>C
ENST00000682673.1:n.2564T>C
ENST00000682805.1:n.2617T>C
ENST00000682965.1:c.2548T>C	ENSP00000508229.1:p.Phe850Leu
ENST00000683093.1:n.2719T>C
ENST00000683136.1:c.2548T>C	ENSP00000507768.1:p.Phe850Leu
ENST00000683153.1:n.2776T>C
ENST00000683365.1:n.2722T>C
ENST00000683377.1:n.2620T>C
ENST00000683456.1:c.2551T>C	ENSP00000508318.1:p.Phe851Leu
ENST00000683522.1:n.2620T>C
ENST00000683562.1:c.*720T>C	ENSP00000508265.1:n.*720T>C
ENST00000683693.1:n.2617T>C
ENST00000683725.1:c.2551T>C	ENSP00000507496.1:p.Phe851Leu
ENST00000684010.1:n.2535T>C
ENST00000684157.1:n.2620T>C
ENST00000684253.1:n.2523T>C
ENST00000684288.1:c.*723T>C	ENSP00000507143.1:n.*723T>C
ENST00000684313.1:n.2052T>C
ENST00000684332.1:n.2693T>C
ENST00000684371.1:n.2726T>C
ENST00000684404.1:n.2617T>C
ENST00000684442.1:n.2620T>C
ENST00000684555.1:c.*763T>C	ENSP00000507705.1:n.*763T>C
ENST00000684571.1:c.2392T>C	ENSP00000506935.1:p.Phe798Leu
ENST00000684593.1:c.*2256T>C	ENSP00000507005.1:n.*2256T>C
ENST00000684711.1:c.*947T>C	ENSP00000506841.1:n.*947T>C
ENST00000302539.9:c.2554T>C	ENSP00000303960.4:p.Phe852Leu
ENST00000389817.8:c.2551T>C MANE Select	ENSP00000374467.4:p.Phe851Leu
ENST00000642271.1:c.2548T>C	ENSP00000493749.1:p.Phe850Leu
ENST00000642579.1:c.635T>C
ENST00000642611.1:n.2505T>C
ENST00000642902.1:c.2386T>C
ENST00000643260.1:c.2551T>C	ENSP00000494450.1:p.Phe851Leu
ENST00000643562.1:c.*527T>C	ENSP00000496124.1:n.*527T>C
ENST00000643925.1:c.595T>C
ENST00000644447.1:c.907T>C	ENSP00000496282.1:p.Phe303Leu
ENST00000644472.1:c.*912T>C	ENSP00000495378.1:n.*912T>C
ENST00000644484.1:c.*760T>C	ENSP00000493558.1:n.*760T>C
ENST00000644542.1:c.*2256T>C	ENSP00000495532.1:n.*2256T>C
ENST00000644675.1:c.*723T>C	ENSP00000494567.1:n.*723T>C
ENST00000644757.1:c.*856T>C	ENSP00000495085.1:n.*856T>C
ENST00000644772.1:c.2617T>C	ENSP00000494321.1:p.Phe873Leu
ENST00000645076.1:c.1803T>C
ENST00000645744.1:c.*915T>C	ENSP00000494564.1:n.*915T>C
ENST00000645760.1:c.2826T>C
ENST00000645884.1:c.2551T>C	ENSP00000495516.1:p.Phe851Leu
ENST00000646003.1:c.*607T>C	ENSP00000495259.1:n.*607T>C
ENST00000646207.1:c.*915T>C	ENSP00000495025.1:n.*915T>C
ENST00000646276.1:c.*824T>C	ENSP00000496070.1:n.*824T>C
ENST00000646592.1:c.1777T>C
ENST00000646902.1:c.2548T>C	ENSP00000494101.1:p.Phe850Leu
ENST00000646993.1:c.*947T>C	ENSP00000493720.1:n.*947T>C
ENST00000647013.1:c.2557T>C	ENSP00000496741.1:n.2557T>C
ENST00000647015.1:c.2302T>C	ENSP00000495389.1:p.Phe768Leu
ENST00000647086.1:c.*2281T>C	ENSP00000493677.1:n.*2281T>C
ENST00000647158.1:c.*692T>C	ENSP00000495744.1:n.*692T>C
ENST00000302539.8:c.2554T>C	ENSP00000303960.4:p.Phe852Leu
ENST00000389817.7:c.2551T>C	ENSP00000374467.3:p.Phe851Leu
ENST00000526921.5:n.235T>C
ENST00000527905.5:c.2521T>C	ENSP00000431653.1:p.Phe841Leu
ENST00000529967.5:n.220T>C
ENST00000530147.5:n.134T>C
ENST00000531911.1:n.665T>C
NM_000352.4:c.2551T>C	NP_000343.2:p.Phe851Leu
NM_001287174.1:c.2554T>C	NP_001274103.1:p.Phe852Leu
XM_011520331.1:c.2551T>C	XP_011518633.1:p.Phe851Leu
XM_011520332.1:c.2554T>C	XP_011518634.1:p.Phe852Leu
XM_011520333.1:c.1051T>C	XP_011518635.1:p.Phe351Leu
XM_011520334.1:c.2554T>C	XP_011518636.1:p.Phe852Leu
XR_930890.1:n.2617T>C
XR_930891.1:n.2617T>C
XR_930892.1:n.2617T>C
XR_930893.1:n.2614T>C
NM_001351295.1:c.2617T>C	NP_001338224.1:p.Phe873Leu
NM_001351296.1:c.2551T>C	NP_001338225.1:p.Phe851Leu
NM_001351297.1:c.2548T>C	NP_001338226.1:p.Phe850Leu
NR_147094.1:n.2620T>C
XM_017018197.2:c.2620T>C	XP_016873686.1:p.Phe874Leu
XM_017018199.1:c.2617T>C	XP_016873688.1:p.Phe873Leu
XM_017018201.2:c.2620T>C	XP_016873690.1:p.Phe874Leu
XM_017018202.1:c.1117T>C	XP_016873691.1:p.Phe373Leu
XM_017018204.1:c.508T>C	XP_016873693.1:p.Phe170Leu
XM_024448668.1:c.919T>C	XP_024304436.1:p.Phe307Leu
XR_001747945.2:n.2692T>C
XR_001747946.2:n.2623T>C
XR_002957189.1:n.2692T>C
NM_000352.6:c.2551T>C MANE Select	NP_000343.2:p.Phe851Leu
NM_001287174.2:c.2554T>C	NP_001274103.1:p.Phe852Leu
NM_001351295.2:c.2617T>C	NP_001338224.1:p.Phe873Leu
NM_001351296.2:c.2551T>C	NP_001338225.1:p.Phe851Leu
NM_001351297.2:c.2548T>C	NP_001338226.1:p.Phe850Leu
NR_147094.2:n.2620T>C
NM_001287174.3:c.2554T>C	NP_001274103.1:p.Phe852Leu