Canonical Allele Identifier: CA379805456

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430046C>T (hg19) ; chr11:g.17408499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408499C>T , CM000673.2:g.17408499C>T	GRCh38
NC_000011.9:g.17430046C>T , CM000673.1:g.17430046C>T	GRCh37
NC_000011.8:g.17386622C>T	NCBI36
NG_008867.1:g.73404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2382G>A
ENST00000529967.6:n.972G>A
ENST00000532220.2:n.445G>A
ENST00000642611.2:n.2782G>A
ENST00000682051.1:n.2729G>A
ENST00000682110.1:n.2782G>A
ENST00000682140.1:c.2710G>A	ENSP00000507829.1:p.Gly904Ser
ENST00000682185.1:n.4018G>A
ENST00000682204.1:c.*851G>A	ENSP00000507094.1:n.*851G>A
ENST00000682215.1:n.2779G>A
ENST00000682288.1:c.*1144G>A	ENSP00000507506.1:n.*1144G>A
ENST00000682442.1:n.2903G>A
ENST00000682528.1:n.2779G>A
ENST00000682673.1:n.2726G>A
ENST00000682805.1:n.2779G>A
ENST00000682965.1:c.2710G>A	ENSP00000508229.1:p.Gly904Ser
ENST00000683093.1:n.2881G>A
ENST00000683136.1:c.2710G>A	ENSP00000507768.1:p.Gly904Ser
ENST00000683153.1:n.2938G>A
ENST00000683365.1:n.2884G>A
ENST00000683377.1:n.2782G>A
ENST00000683456.1:c.2713G>A	ENSP00000508318.1:p.Gly905Ser
ENST00000683522.1:n.2782G>A
ENST00000683562.1:c.*882G>A	ENSP00000508265.1:n.*882G>A
ENST00000683693.1:n.2779G>A
ENST00000683725.1:c.2713G>A	ENSP00000507496.1:p.Gly905Ser
ENST00000684010.1:n.2697G>A
ENST00000684157.1:n.2782G>A
ENST00000684253.1:n.2685G>A
ENST00000684288.1:c.*885G>A	ENSP00000507143.1:n.*885G>A
ENST00000684313.1:n.2214G>A
ENST00000684332.1:n.2855G>A
ENST00000684371.1:n.2888G>A
ENST00000684404.1:n.2779G>A
ENST00000684442.1:n.2782G>A
ENST00000684555.1:c.*925G>A	ENSP00000507705.1:n.*925G>A
ENST00000684571.1:c.2554G>A	ENSP00000506935.1:p.Gly852Ser
ENST00000684593.1:c.*2418G>A	ENSP00000507005.1:n.*2418G>A
ENST00000684711.1:c.*1109G>A	ENSP00000506841.1:n.*1109G>A
ENST00000302539.9:c.2716G>A	ENSP00000303960.4:p.Gly906Ser
ENST00000389817.8:c.2713G>A MANE Select	ENSP00000374467.4:p.Gly905Ser
ENST00000642271.1:c.2710G>A	ENSP00000493749.1:p.Gly904Ser
ENST00000642579.1:c.797G>A
ENST00000642611.1:n.2667G>A
ENST00000642902.1:c.2548G>A
ENST00000643260.1:c.2713G>A	ENSP00000494450.1:p.Gly905Ser
ENST00000643562.1:c.*689G>A	ENSP00000496124.1:n.*689G>A
ENST00000643925.1:c.757G>A
ENST00000644447.1:c.1069G>A	ENSP00000496282.1:p.Gly357Ser
ENST00000644472.1:c.*1074G>A	ENSP00000495378.1:n.*1074G>A
ENST00000644484.1:c.*922G>A	ENSP00000493558.1:n.*922G>A
ENST00000644542.1:c.*2418G>A	ENSP00000495532.1:n.*2418G>A
ENST00000644675.1:c.*885G>A	ENSP00000494567.1:n.*885G>A
ENST00000644757.1:c.*1018G>A	ENSP00000495085.1:n.*1018G>A
ENST00000644772.1:c.2779G>A	ENSP00000494321.1:p.Gly927Ser
ENST00000645076.1:c.1965G>A
ENST00000645744.1:c.*1077G>A	ENSP00000494564.1:n.*1077G>A
ENST00000645760.1:c.2988G>A
ENST00000645884.1:c.2713G>A	ENSP00000495516.1:p.Gly905Ser
ENST00000646003.1:c.*769G>A	ENSP00000495259.1:n.*769G>A
ENST00000646207.1:c.*1077G>A	ENSP00000495025.1:n.*1077G>A
ENST00000646276.1:c.*986G>A	ENSP00000496070.1:n.*986G>A
ENST00000646592.1:c.1939G>A
ENST00000646902.1:c.2710G>A	ENSP00000494101.1:p.Gly904Ser
ENST00000646993.1:c.*1109G>A	ENSP00000493720.1:n.*1109G>A
ENST00000647013.1:c.2719G>A	ENSP00000496741.1:n.2719G>A
ENST00000647015.1:c.2464G>A	ENSP00000495389.1:p.Gly822Ser
ENST00000647086.1:c.*2443G>A	ENSP00000493677.1:n.*2443G>A
ENST00000647158.1:c.*854G>A	ENSP00000495744.1:n.*854G>A
ENST00000302539.8:c.2716G>A	ENSP00000303960.4:p.Gly906Ser
ENST00000389817.7:c.2713G>A	ENSP00000374467.3:p.Gly905Ser
ENST00000526921.5:n.397G>A
ENST00000527905.5:c.2683G>A	ENSP00000431653.1:p.Gly895Ser
ENST00000529967.5:n.382G>A
NM_000352.4:c.2713G>A	NP_000343.2:p.Gly905Ser
NM_001287174.1:c.2716G>A	NP_001274103.1:p.Gly906Ser
XM_011520331.1:c.2713G>A	XP_011518633.1:p.Gly905Ser
XM_011520332.1:c.2716G>A	XP_011518634.1:p.Gly906Ser
XM_011520333.1:c.1213G>A	XP_011518635.1:p.Gly405Ser
XM_011520334.1:c.2716G>A	XP_011518636.1:p.Gly906Ser
XR_930890.1:n.2779G>A
XR_930891.1:n.2779G>A
XR_930892.1:n.2779G>A
XR_930893.1:n.2776G>A
NM_001351295.1:c.2779G>A	NP_001338224.1:p.Gly927Ser
NM_001351296.1:c.2713G>A	NP_001338225.1:p.Gly905Ser
NM_001351297.1:c.2710G>A	NP_001338226.1:p.Gly904Ser
NR_147094.1:n.2782G>A
XM_017018197.2:c.2782G>A	XP_016873686.1:p.Gly928Ser
XM_017018199.1:c.2779G>A	XP_016873688.1:p.Gly927Ser
XM_017018201.2:c.2782G>A	XP_016873690.1:p.Gly928Ser
XM_017018202.1:c.1279G>A	XP_016873691.1:p.Gly427Ser
XM_017018204.1:c.670G>A	XP_016873693.1:p.Gly224Ser
XM_024448668.1:c.1081G>A	XP_024304436.1:p.Gly361Ser
XR_001747945.2:n.2854G>A
XR_001747946.2:n.2785G>A
XR_002957189.1:n.2854G>A
NM_000352.6:c.2713G>A MANE Select	NP_000343.2:p.Gly905Ser
NM_001287174.2:c.2716G>A	NP_001274103.1:p.Gly906Ser
NM_001351295.2:c.2779G>A	NP_001338224.1:p.Gly927Ser
NM_001351296.2:c.2713G>A	NP_001338225.1:p.Gly905Ser
NM_001351297.2:c.2710G>A	NP_001338226.1:p.Gly904Ser
NR_147094.2:n.2782G>A
NM_001287174.3:c.2716G>A	NP_001274103.1:p.Gly906Ser