Canonical Allele Identifier: CA379805451

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430045C>G (hg19) ; chr11:g.17408498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408498C>G , CM000673.2:g.17408498C>G	GRCh38
NC_000011.9:g.17430045C>G , CM000673.1:g.17430045C>G	GRCh37
NC_000011.8:g.17386621C>G	NCBI36
NG_008867.1:g.73405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2383G>C
ENST00000529967.6:n.973G>C
ENST00000532220.2:n.446G>C
ENST00000642611.2:n.2783G>C
ENST00000682051.1:n.2730G>C
ENST00000682110.1:n.2783G>C
ENST00000682140.1:c.2711G>C	ENSP00000507829.1:p.Gly904Ala
ENST00000682185.1:n.4019G>C
ENST00000682204.1:c.*852G>C	ENSP00000507094.1:n.*852G>C
ENST00000682215.1:n.2780G>C
ENST00000682288.1:c.*1145G>C	ENSP00000507506.1:n.*1145G>C
ENST00000682442.1:n.2904G>C
ENST00000682528.1:n.2780G>C
ENST00000682673.1:n.2727G>C
ENST00000682805.1:n.2780G>C
ENST00000682965.1:c.2711G>C	ENSP00000508229.1:p.Gly904Ala
ENST00000683093.1:n.2882G>C
ENST00000683136.1:c.2711G>C	ENSP00000507768.1:p.Gly904Ala
ENST00000683153.1:n.2939G>C
ENST00000683365.1:n.2885G>C
ENST00000683377.1:n.2783G>C
ENST00000683456.1:c.2714G>C	ENSP00000508318.1:p.Gly905Ala
ENST00000683522.1:n.2783G>C
ENST00000683562.1:c.*883G>C	ENSP00000508265.1:n.*883G>C
ENST00000683693.1:n.2780G>C
ENST00000683725.1:c.2714G>C	ENSP00000507496.1:p.Gly905Ala
ENST00000684010.1:n.2698G>C
ENST00000684157.1:n.2783G>C
ENST00000684253.1:n.2686G>C
ENST00000684288.1:c.*886G>C	ENSP00000507143.1:n.*886G>C
ENST00000684313.1:n.2215G>C
ENST00000684332.1:n.2856G>C
ENST00000684371.1:n.2889G>C
ENST00000684404.1:n.2780G>C
ENST00000684442.1:n.2783G>C
ENST00000684555.1:c.*926G>C	ENSP00000507705.1:n.*926G>C
ENST00000684571.1:c.2555G>C	ENSP00000506935.1:p.Gly852Ala
ENST00000684593.1:c.*2419G>C	ENSP00000507005.1:n.*2419G>C
ENST00000684711.1:c.*1110G>C	ENSP00000506841.1:n.*1110G>C
ENST00000302539.9:c.2717G>C	ENSP00000303960.4:p.Gly906Ala
ENST00000389817.8:c.2714G>C MANE Select	ENSP00000374467.4:p.Gly905Ala
ENST00000642271.1:c.2711G>C	ENSP00000493749.1:p.Gly904Ala
ENST00000642579.1:c.798G>C
ENST00000642611.1:n.2668G>C
ENST00000642902.1:c.2549G>C
ENST00000643260.1:c.2714G>C	ENSP00000494450.1:p.Gly905Ala
ENST00000643562.1:c.*690G>C	ENSP00000496124.1:n.*690G>C
ENST00000643925.1:c.758G>C
ENST00000644447.1:c.1070G>C	ENSP00000496282.1:p.Gly357Ala
ENST00000644472.1:c.*1075G>C	ENSP00000495378.1:n.*1075G>C
ENST00000644484.1:c.*923G>C	ENSP00000493558.1:n.*923G>C
ENST00000644542.1:c.*2419G>C	ENSP00000495532.1:n.*2419G>C
ENST00000644675.1:c.*886G>C	ENSP00000494567.1:n.*886G>C
ENST00000644757.1:c.*1019G>C	ENSP00000495085.1:n.*1019G>C
ENST00000644772.1:c.2780G>C	ENSP00000494321.1:p.Gly927Ala
ENST00000645076.1:c.1966G>C
ENST00000645744.1:c.*1078G>C	ENSP00000494564.1:n.*1078G>C
ENST00000645760.1:c.2989G>C
ENST00000645884.1:c.2714G>C	ENSP00000495516.1:p.Gly905Ala
ENST00000646003.1:c.*770G>C	ENSP00000495259.1:n.*770G>C
ENST00000646207.1:c.*1078G>C	ENSP00000495025.1:n.*1078G>C
ENST00000646276.1:c.*987G>C	ENSP00000496070.1:n.*987G>C
ENST00000646592.1:c.1940G>C
ENST00000646902.1:c.2711G>C	ENSP00000494101.1:p.Gly904Ala
ENST00000646993.1:c.*1110G>C	ENSP00000493720.1:n.*1110G>C
ENST00000647013.1:c.2720G>C	ENSP00000496741.1:n.2720G>C
ENST00000647015.1:c.2465G>C	ENSP00000495389.1:p.Gly822Ala
ENST00000647086.1:c.*2444G>C	ENSP00000493677.1:n.*2444G>C
ENST00000647158.1:c.*855G>C	ENSP00000495744.1:n.*855G>C
ENST00000302539.8:c.2717G>C	ENSP00000303960.4:p.Gly906Ala
ENST00000389817.7:c.2714G>C	ENSP00000374467.3:p.Gly905Ala
ENST00000526921.5:n.398G>C
ENST00000527905.5:c.2684G>C	ENSP00000431653.1:p.Gly895Ala
ENST00000529967.5:n.383G>C
NM_000352.4:c.2714G>C	NP_000343.2:p.Gly905Ala
NM_001287174.1:c.2717G>C	NP_001274103.1:p.Gly906Ala
XM_011520331.1:c.2714G>C	XP_011518633.1:p.Gly905Ala
XM_011520332.1:c.2717G>C	XP_011518634.1:p.Gly906Ala
XM_011520333.1:c.1214G>C	XP_011518635.1:p.Gly405Ala
XM_011520334.1:c.2717G>C	XP_011518636.1:p.Gly906Ala
XR_930890.1:n.2780G>C
XR_930891.1:n.2780G>C
XR_930892.1:n.2780G>C
XR_930893.1:n.2777G>C
NM_001351295.1:c.2780G>C	NP_001338224.1:p.Gly927Ala
NM_001351296.1:c.2714G>C	NP_001338225.1:p.Gly905Ala
NM_001351297.1:c.2711G>C	NP_001338226.1:p.Gly904Ala
NR_147094.1:n.2783G>C
XM_017018197.2:c.2783G>C	XP_016873686.1:p.Gly928Ala
XM_017018199.1:c.2780G>C	XP_016873688.1:p.Gly927Ala
XM_017018201.2:c.2783G>C	XP_016873690.1:p.Gly928Ala
XM_017018202.1:c.1280G>C	XP_016873691.1:p.Gly427Ala
XM_017018204.1:c.671G>C	XP_016873693.1:p.Gly224Ala
XM_024448668.1:c.1082G>C	XP_024304436.1:p.Gly361Ala
XR_001747945.2:n.2855G>C
XR_001747946.2:n.2786G>C
XR_002957189.1:n.2855G>C
NM_000352.6:c.2714G>C MANE Select	NP_000343.2:p.Gly905Ala
NM_001287174.2:c.2717G>C	NP_001274103.1:p.Gly906Ala
NM_001351295.2:c.2780G>C	NP_001338224.1:p.Gly927Ala
NM_001351296.2:c.2714G>C	NP_001338225.1:p.Gly905Ala
NM_001351297.2:c.2711G>C	NP_001338226.1:p.Gly904Ala
NR_147094.2:n.2783G>C
NM_001287174.3:c.2717G>C	NP_001274103.1:p.Gly906Ala