Canonical Allele Identifier: CA473301286

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434273A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412726A>T , CM000673.2:g.17412726A>T	GRCh38
NC_000011.9:g.17434273A>T , CM000673.1:g.17434273A>T	GRCh37
NC_000011.8:g.17390849A>T	NCBI36
NG_008867.1:g.69177T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2165T>A
ENST00000529967.6:n.755T>A
ENST00000642611.2:n.2565T>A
ENST00000682051.1:n.2512T>A
ENST00000682110.1:n.2565T>A
ENST00000682140.1:c.2493T>A	ENSP00000507829.1:p.Gly831=
ENST00000682185.1:n.3801T>A
ENST00000682204.1:c.*634T>A	ENSP00000507094.1:n.*634T>A
ENST00000682215.1:n.2562T>A
ENST00000682288.1:c.*927T>A	ENSP00000507506.1:n.*927T>A
ENST00000682442.1:n.2686T>A
ENST00000682528.1:n.2562T>A
ENST00000682673.1:n.2509T>A
ENST00000682805.1:n.2562T>A
ENST00000682965.1:c.2493T>A	ENSP00000508229.1:p.Gly831=
ENST00000683093.1:n.2664T>A
ENST00000683136.1:c.2493T>A	ENSP00000507768.1:p.Gly831=
ENST00000683153.1:n.2721T>A
ENST00000683365.1:n.2667T>A
ENST00000683377.1:n.2565T>A
ENST00000683456.1:c.2496T>A	ENSP00000508318.1:p.Gly832=
ENST00000683522.1:n.2565T>A
ENST00000683562.1:c.*665T>A	ENSP00000508265.1:n.*665T>A
ENST00000683693.1:n.2562T>A
ENST00000683725.1:c.2496T>A	ENSP00000507496.1:p.Gly832=
ENST00000684010.1:n.2480T>A
ENST00000684157.1:n.2565T>A
ENST00000684253.1:n.2468T>A
ENST00000684288.1:c.*668T>A	ENSP00000507143.1:n.*668T>A
ENST00000684313.1:n.1997T>A
ENST00000684332.1:n.2638T>A
ENST00000684371.1:n.2671T>A
ENST00000684404.1:n.2562T>A
ENST00000684442.1:n.2565T>A
ENST00000684555.1:c.*708T>A	ENSP00000507705.1:n.*708T>A
ENST00000684571.1:c.2337T>A	ENSP00000506935.1:p.Gly779=
ENST00000684593.1:c.*2201T>A	ENSP00000507005.1:n.*2201T>A
ENST00000684711.1:c.*892T>A	ENSP00000506841.1:n.*892T>A
ENST00000302539.9:c.2499T>A	ENSP00000303960.4:p.Gly833=
ENST00000389817.8:c.2496T>A MANE Select	ENSP00000374467.4:p.Gly832=
ENST00000642271.1:c.2493T>A	ENSP00000493749.1:p.Gly831=
ENST00000642579.1:c.580T>A
ENST00000642611.1:n.2450T>A
ENST00000642902.1:c.2331T>A
ENST00000643260.1:c.2496T>A	ENSP00000494450.1:p.Gly832=
ENST00000643562.1:c.*472T>A	ENSP00000496124.1:n.*472T>A
ENST00000643925.1:c.540T>A
ENST00000644447.1:c.852T>A	ENSP00000496282.1:p.Gly284=
ENST00000644472.1:c.*857T>A	ENSP00000495378.1:n.*857T>A
ENST00000644484.1:c.*705T>A	ENSP00000493558.1:n.*705T>A
ENST00000644542.1:c.*2201T>A	ENSP00000495532.1:n.*2201T>A
ENST00000644675.1:c.*668T>A	ENSP00000494567.1:n.*668T>A
ENST00000644757.1:c.*801T>A	ENSP00000495085.1:n.*801T>A
ENST00000644772.1:c.2562T>A	ENSP00000494321.1:p.Gly854=
ENST00000645076.1:c.1748T>A
ENST00000645744.1:c.*860T>A	ENSP00000494564.1:n.*860T>A
ENST00000645760.1:c.2771T>A
ENST00000645884.1:c.2496T>A	ENSP00000495516.1:p.Gly832=
ENST00000646003.1:c.*552T>A	ENSP00000495259.1:n.*552T>A
ENST00000646207.1:c.*860T>A	ENSP00000495025.1:n.*860T>A
ENST00000646276.1:c.*769T>A	ENSP00000496070.1:n.*769T>A
ENST00000646592.1:c.1722T>A
ENST00000646902.1:c.2493T>A	ENSP00000494101.1:p.Gly831=
ENST00000646993.1:c.*892T>A	ENSP00000493720.1:n.*892T>A
ENST00000647013.1:c.2502T>A	ENSP00000496741.1:n.2502T>A
ENST00000647015.1:c.2247T>A	ENSP00000495389.1:p.Gly749=
ENST00000647086.1:c.*2226T>A	ENSP00000493677.1:n.*2226T>A
ENST00000647158.1:c.*637T>A	ENSP00000495744.1:n.*637T>A
ENST00000302539.8:c.2499T>A	ENSP00000303960.4:p.Gly833=
ENST00000389817.7:c.2496T>A	ENSP00000374467.3:p.Gly832=
ENST00000526921.5:n.180T>A
ENST00000527905.5:c.2466T>A	ENSP00000431653.1:p.Gly822=
ENST00000529967.5:n.165T>A
ENST00000530147.5:n.79T>A
ENST00000531911.1:n.610T>A
NM_000352.4:c.2496T>A	NP_000343.2:p.Gly832=
NM_001287174.1:c.2499T>A	NP_001274103.1:p.Gly833=
XM_011520331.1:c.2496T>A	XP_011518633.1:p.Gly832=
XM_011520332.1:c.2499T>A	XP_011518634.1:p.Gly833=
XM_011520333.1:c.996T>A	XP_011518635.1:p.Gly332=
XM_011520334.1:c.2499T>A	XP_011518636.1:p.Gly833=
XR_930890.1:n.2562T>A
XR_930891.1:n.2562T>A
XR_930892.1:n.2562T>A
XR_930893.1:n.2559T>A
NM_001351295.1:c.2562T>A	NP_001338224.1:p.Gly854=
NM_001351296.1:c.2496T>A	NP_001338225.1:p.Gly832=
NM_001351297.1:c.2493T>A	NP_001338226.1:p.Gly831=
NR_147094.1:n.2565T>A
XM_017018197.2:c.2565T>A	XP_016873686.1:p.Gly855=
XM_017018199.1:c.2562T>A	XP_016873688.1:p.Gly854=
XM_017018201.2:c.2565T>A	XP_016873690.1:p.Gly855=
XM_017018202.1:c.1062T>A	XP_016873691.1:p.Gly354=
XM_017018204.1:c.453T>A	XP_016873693.1:p.Gly151=
XM_024448668.1:c.864T>A	XP_024304436.1:p.Gly288=
XR_001747945.2:n.2637T>A
XR_001747946.2:n.2568T>A
XR_002957189.1:n.2637T>A
NM_000352.6:c.2496T>A MANE Select	NP_000343.2:p.Gly832=
NM_001287174.2:c.2499T>A	NP_001274103.1:p.Gly833=
NM_001351295.2:c.2562T>A	NP_001338224.1:p.Gly854=
NM_001351296.2:c.2496T>A	NP_001338225.1:p.Gly832=
NM_001351297.2:c.2493T>A	NP_001338226.1:p.Gly831=
NR_147094.2:n.2565T>A
NM_001287174.3:c.2499T>A	NP_001274103.1:p.Gly833=