Canonical Allele Identifier: CA379805072

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429985T>A (hg19) ; chr11:g.17408438T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408438T>A , CM000673.2:g.17408438T>A	GRCh38
NC_000011.9:g.17429985T>A , CM000673.1:g.17429985T>A	GRCh37
NC_000011.8:g.17386561T>A	NCBI36
NG_008867.1:g.73465A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2443A>T
ENST00000529967.6:n.1033A>T
ENST00000532220.2:n.506A>T
ENST00000642611.2:n.2843A>T
ENST00000682051.1:n.2790A>T
ENST00000682110.1:n.2843A>T
ENST00000682140.1:c.2771A>T	ENSP00000507829.1:p.Glu924Val
ENST00000682185.1:n.4079A>T
ENST00000682204.1:c.*912A>T	ENSP00000507094.1:n.*912A>T
ENST00000682215.1:n.2840A>T
ENST00000682288.1:c.*1205A>T	ENSP00000507506.1:n.*1205A>T
ENST00000682442.1:n.2964A>T
ENST00000682528.1:n.2840A>T
ENST00000682673.1:n.2787A>T
ENST00000682805.1:n.2840A>T
ENST00000682965.1:c.2771A>T	ENSP00000508229.1:p.Glu924Val
ENST00000683093.1:n.2942A>T
ENST00000683136.1:c.2771A>T	ENSP00000507768.1:p.Glu924Val
ENST00000683153.1:n.2999A>T
ENST00000683365.1:n.2945A>T
ENST00000683377.1:n.2843A>T
ENST00000683456.1:c.2774A>T	ENSP00000508318.1:p.Glu925Val
ENST00000683522.1:n.2843A>T
ENST00000683562.1:c.*943A>T	ENSP00000508265.1:n.*943A>T
ENST00000683693.1:n.2840A>T
ENST00000683725.1:c.2774A>T	ENSP00000507496.1:p.Glu925Val
ENST00000684010.1:n.2758A>T
ENST00000684157.1:n.2843A>T
ENST00000684253.1:n.2746A>T
ENST00000684288.1:c.*946A>T	ENSP00000507143.1:n.*946A>T
ENST00000684313.1:n.2275A>T
ENST00000684332.1:n.2916A>T
ENST00000684371.1:n.2949A>T
ENST00000684404.1:n.2840A>T
ENST00000684442.1:n.2843A>T
ENST00000684555.1:c.*986A>T	ENSP00000507705.1:n.*986A>T
ENST00000684571.1:c.2615A>T	ENSP00000506935.1:p.Glu872Val
ENST00000684593.1:c.*2479A>T	ENSP00000507005.1:n.*2479A>T
ENST00000684711.1:c.*1170A>T	ENSP00000506841.1:n.*1170A>T
ENST00000302539.9:c.2777A>T	ENSP00000303960.4:p.Glu926Val
ENST00000389817.8:c.2774A>T MANE Select	ENSP00000374467.4:p.Glu925Val
ENST00000642271.1:c.2771A>T	ENSP00000493749.1:p.Glu924Val
ENST00000642579.1:c.858A>T
ENST00000642611.1:n.2728A>T
ENST00000642902.1:c.2609A>T
ENST00000643260.1:c.2774A>T	ENSP00000494450.1:p.Glu925Val
ENST00000643562.1:c.*750A>T	ENSP00000496124.1:n.*750A>T
ENST00000643925.1:c.818A>T
ENST00000644447.1:c.1130A>T	ENSP00000496282.1:p.Glu377Val
ENST00000644472.1:c.*1135A>T	ENSP00000495378.1:n.*1135A>T
ENST00000644484.1:c.*983A>T	ENSP00000493558.1:n.*983A>T
ENST00000644542.1:c.*2479A>T	ENSP00000495532.1:n.*2479A>T
ENST00000644675.1:c.*946A>T	ENSP00000494567.1:n.*946A>T
ENST00000644757.1:c.*1079A>T	ENSP00000495085.1:n.*1079A>T
ENST00000644772.1:c.2840A>T	ENSP00000494321.1:p.Glu947Val
ENST00000645076.1:c.2026A>T
ENST00000645744.1:c.*1138A>T	ENSP00000494564.1:n.*1138A>T
ENST00000645760.1:c.3049A>T
ENST00000645884.1:c.2774A>T	ENSP00000495516.1:p.Glu925Val
ENST00000646003.1:c.*830A>T	ENSP00000495259.1:n.*830A>T
ENST00000646207.1:c.*1138A>T	ENSP00000495025.1:n.*1138A>T
ENST00000646276.1:c.*1047A>T	ENSP00000496070.1:n.*1047A>T
ENST00000646592.1:c.2000A>T
ENST00000646902.1:c.2771A>T	ENSP00000494101.1:p.Glu924Val
ENST00000646993.1:c.*1170A>T	ENSP00000493720.1:n.*1170A>T
ENST00000647013.1:c.2780A>T	ENSP00000496741.1:n.2780A>T
ENST00000647015.1:c.2525A>T	ENSP00000495389.1:p.Glu842Val
ENST00000647086.1:c.*2504A>T	ENSP00000493677.1:n.*2504A>T
ENST00000647158.1:c.*915A>T	ENSP00000495744.1:n.*915A>T
ENST00000302539.8:c.2777A>T	ENSP00000303960.4:p.Glu926Val
ENST00000389817.7:c.2774A>T	ENSP00000374467.3:p.Glu925Val
ENST00000526921.5:n.458A>T
ENST00000527905.5:c.2744A>T	ENSP00000431653.1:p.Glu915Val
ENST00000529967.5:n.443A>T
NM_000352.4:c.2774A>T	NP_000343.2:p.Glu925Val
NM_001287174.1:c.2777A>T	NP_001274103.1:p.Glu926Val
XM_011520331.1:c.2774A>T	XP_011518633.1:p.Glu925Val
XM_011520332.1:c.2777A>T	XP_011518634.1:p.Glu926Val
XM_011520333.1:c.1274A>T	XP_011518635.1:p.Glu425Val
XM_011520334.1:c.2777A>T	XP_011518636.1:p.Glu926Val
XR_930890.1:n.2840A>T
XR_930891.1:n.2840A>T
XR_930892.1:n.2840A>T
XR_930893.1:n.2837A>T
NM_001351295.1:c.2840A>T	NP_001338224.1:p.Glu947Val
NM_001351296.1:c.2774A>T	NP_001338225.1:p.Glu925Val
NM_001351297.1:c.2771A>T	NP_001338226.1:p.Glu924Val
NR_147094.1:n.2843A>T
XM_017018197.2:c.2843A>T	XP_016873686.1:p.Glu948Val
XM_017018199.1:c.2840A>T	XP_016873688.1:p.Glu947Val
XM_017018201.2:c.2843A>T	XP_016873690.1:p.Glu948Val
XM_017018202.1:c.1340A>T	XP_016873691.1:p.Glu447Val
XM_017018204.1:c.731A>T	XP_016873693.1:p.Glu244Val
XM_024448668.1:c.1142A>T	XP_024304436.1:p.Glu381Val
XR_001747945.2:n.2915A>T
XR_001747946.2:n.2846A>T
XR_002957189.1:n.2915A>T
NM_000352.6:c.2774A>T MANE Select	NP_000343.2:p.Glu925Val
NM_001287174.2:c.2777A>T	NP_001274103.1:p.Glu926Val
NM_001351295.2:c.2840A>T	NP_001338224.1:p.Glu947Val
NM_001351296.2:c.2774A>T	NP_001338225.1:p.Glu925Val
NM_001351297.2:c.2771A>T	NP_001338226.1:p.Glu924Val
NR_147094.2:n.2843A>T
NM_001287174.3:c.2777A>T	NP_001274103.1:p.Glu926Val