Canonical Allele Identifier: CA473301224

Gene: ABCC8

Linked Data

• COSMIC: COSM1475305
• MyVariant Identifiers: chr11:g.17434216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412669G>A , CM000673.2:g.17412669G>A	GRCh38
NC_000011.9:g.17434216G>A , CM000673.1:g.17434216G>A	GRCh37
NC_000011.8:g.17390792G>A	NCBI36
NG_008867.1:g.69234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2222C>T
ENST00000529967.6:n.812C>T
ENST00000642611.2:n.2622C>T
ENST00000682051.1:n.2569C>T
ENST00000682110.1:n.2622C>T
ENST00000682140.1:c.2550C>T	ENSP00000507829.1:p.Phe850=
ENST00000682185.1:n.3858C>T
ENST00000682204.1:c.*691C>T	ENSP00000507094.1:n.*691C>T
ENST00000682215.1:n.2619C>T
ENST00000682288.1:c.*984C>T	ENSP00000507506.1:n.*984C>T
ENST00000682442.1:n.2743C>T
ENST00000682528.1:n.2619C>T
ENST00000682673.1:n.2566C>T
ENST00000682805.1:n.2619C>T
ENST00000682965.1:c.2550C>T	ENSP00000508229.1:p.Phe850=
ENST00000683093.1:n.2721C>T
ENST00000683136.1:c.2550C>T	ENSP00000507768.1:p.Phe850=
ENST00000683153.1:n.2778C>T
ENST00000683365.1:n.2724C>T
ENST00000683377.1:n.2622C>T
ENST00000683456.1:c.2553C>T	ENSP00000508318.1:p.Phe851=
ENST00000683522.1:n.2622C>T
ENST00000683562.1:c.*722C>T	ENSP00000508265.1:n.*722C>T
ENST00000683693.1:n.2619C>T
ENST00000683725.1:c.2553C>T	ENSP00000507496.1:p.Phe851=
ENST00000684010.1:n.2537C>T
ENST00000684157.1:n.2622C>T
ENST00000684253.1:n.2525C>T
ENST00000684288.1:c.*725C>T	ENSP00000507143.1:n.*725C>T
ENST00000684313.1:n.2054C>T
ENST00000684332.1:n.2695C>T
ENST00000684371.1:n.2728C>T
ENST00000684404.1:n.2619C>T
ENST00000684442.1:n.2622C>T
ENST00000684555.1:c.*765C>T	ENSP00000507705.1:n.*765C>T
ENST00000684571.1:c.2394C>T	ENSP00000506935.1:p.Phe798=
ENST00000684593.1:c.*2258C>T	ENSP00000507005.1:n.*2258C>T
ENST00000684711.1:c.*949C>T	ENSP00000506841.1:n.*949C>T
ENST00000302539.9:c.2556C>T	ENSP00000303960.4:p.Phe852=
ENST00000389817.8:c.2553C>T MANE Select	ENSP00000374467.4:p.Phe851=
ENST00000642271.1:c.2550C>T	ENSP00000493749.1:p.Phe850=
ENST00000642579.1:c.637C>T
ENST00000642611.1:n.2507C>T
ENST00000642902.1:c.2388C>T
ENST00000643260.1:c.2553C>T	ENSP00000494450.1:p.Phe851=
ENST00000643562.1:c.*529C>T	ENSP00000496124.1:n.*529C>T
ENST00000643925.1:c.597C>T
ENST00000644447.1:c.909C>T	ENSP00000496282.1:p.Phe303=
ENST00000644472.1:c.*914C>T	ENSP00000495378.1:n.*914C>T
ENST00000644484.1:c.*762C>T	ENSP00000493558.1:n.*762C>T
ENST00000644542.1:c.*2258C>T	ENSP00000495532.1:n.*2258C>T
ENST00000644675.1:c.*725C>T	ENSP00000494567.1:n.*725C>T
ENST00000644757.1:c.*858C>T	ENSP00000495085.1:n.*858C>T
ENST00000644772.1:c.2619C>T	ENSP00000494321.1:p.Phe873=
ENST00000645076.1:c.1805C>T
ENST00000645744.1:c.*917C>T	ENSP00000494564.1:n.*917C>T
ENST00000645760.1:c.2828C>T
ENST00000645884.1:c.2553C>T	ENSP00000495516.1:p.Phe851=
ENST00000646003.1:c.*609C>T	ENSP00000495259.1:n.*609C>T
ENST00000646207.1:c.*917C>T	ENSP00000495025.1:n.*917C>T
ENST00000646276.1:c.*826C>T	ENSP00000496070.1:n.*826C>T
ENST00000646592.1:c.1779C>T
ENST00000646902.1:c.2550C>T	ENSP00000494101.1:p.Phe850=
ENST00000646993.1:c.*949C>T	ENSP00000493720.1:n.*949C>T
ENST00000647013.1:c.2559C>T	ENSP00000496741.1:n.2559C>T
ENST00000647015.1:c.2304C>T	ENSP00000495389.1:p.Phe768=
ENST00000647086.1:c.*2283C>T	ENSP00000493677.1:n.*2283C>T
ENST00000647158.1:c.*694C>T	ENSP00000495744.1:n.*694C>T
ENST00000302539.8:c.2556C>T	ENSP00000303960.4:p.Phe852=
ENST00000389817.7:c.2553C>T	ENSP00000374467.3:p.Phe851=
ENST00000526921.5:n.237C>T
ENST00000527905.5:c.2523C>T	ENSP00000431653.1:p.Phe841=
ENST00000529967.5:n.222C>T
ENST00000530147.5:n.136C>T
ENST00000531911.1:n.667C>T
NM_000352.4:c.2553C>T	NP_000343.2:p.Phe851=
NM_001287174.1:c.2556C>T	NP_001274103.1:p.Phe852=
XM_011520331.1:c.2553C>T	XP_011518633.1:p.Phe851=
XM_011520332.1:c.2556C>T	XP_011518634.1:p.Phe852=
XM_011520333.1:c.1053C>T	XP_011518635.1:p.Phe351=
XM_011520334.1:c.2556C>T	XP_011518636.1:p.Phe852=
XR_930890.1:n.2619C>T
XR_930891.1:n.2619C>T
XR_930892.1:n.2619C>T
XR_930893.1:n.2616C>T
NM_001351295.1:c.2619C>T	NP_001338224.1:p.Phe873=
NM_001351296.1:c.2553C>T	NP_001338225.1:p.Phe851=
NM_001351297.1:c.2550C>T	NP_001338226.1:p.Phe850=
NR_147094.1:n.2622C>T
XM_017018197.2:c.2622C>T	XP_016873686.1:p.Phe874=
XM_017018199.1:c.2619C>T	XP_016873688.1:p.Phe873=
XM_017018201.2:c.2622C>T	XP_016873690.1:p.Phe874=
XM_017018202.1:c.1119C>T	XP_016873691.1:p.Phe373=
XM_017018204.1:c.510C>T	XP_016873693.1:p.Phe170=
XM_024448668.1:c.921C>T	XP_024304436.1:p.Phe307=
XR_001747945.2:n.2694C>T
XR_001747946.2:n.2625C>T
XR_002957189.1:n.2694C>T
NM_000352.6:c.2553C>T MANE Select	NP_000343.2:p.Phe851=
NM_001287174.2:c.2556C>T	NP_001274103.1:p.Phe852=
NM_001351295.2:c.2619C>T	NP_001338224.1:p.Phe873=
NM_001351296.2:c.2553C>T	NP_001338225.1:p.Phe851=
NM_001351297.2:c.2550C>T	NP_001338226.1:p.Phe850=
NR_147094.2:n.2622C>T
NM_001287174.3:c.2556C>T	NP_001274103.1:p.Phe852=