Canonical Allele Identifier: CA379788254

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417449C>G (hg19) ; chr11:g.17395902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395902C>G , CM000673.2:g.17395902C>G	GRCh38
NC_000011.9:g.17417449C>G , CM000673.1:g.17417449C>G	GRCh37
NC_000011.8:g.17374025C>G	NCBI36
NG_008867.1:g.86001G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3749G>C
ENST00000528374.2:c.739G>C
ENST00000529967.6:n.2487G>C
ENST00000532220.2:n.3381G>C
ENST00000642611.2:n.5348G>C
ENST00000644057.2:n.591G>C
ENST00000645004.2:n.1647G>C
ENST00000682051.1:n.4310G>C
ENST00000682110.1:n.4363G>C
ENST00000682140.1:c.4014G>C	ENSP00000507829.1:p.Trp1338Cys
ENST00000682185.1:n.5453G>C
ENST00000682204.1:c.*2286G>C	ENSP00000507094.1:n.*2286G>C
ENST00000682215.1:n.4730G>C
ENST00000682288.1:c.*2579G>C	ENSP00000507506.1:n.*2579G>C
ENST00000682442.1:n.4583G>C
ENST00000682528.1:n.4440G>C
ENST00000682673.1:n.4307G>C
ENST00000682805.1:n.4768G>C
ENST00000682965.1:c.*570G>C	ENSP00000508229.1:n.*570G>C
ENST00000683093.1:n.5447G>C
ENST00000683136.1:c.4031G>C	ENSP00000507768.1:p.Gly1344Ala
ENST00000683153.1:n.4405G>C
ENST00000683365.1:n.4465G>C
ENST00000683377.1:n.4363G>C
ENST00000683456.1:c.*1285G>C	ENSP00000508318.1:n.*1285G>C
ENST00000683522.1:n.4363G>C
ENST00000683562.1:c.*2317G>C	ENSP00000508265.1:n.*2317G>C
ENST00000683693.1:n.5795G>C
ENST00000683725.1:c.4148G>C	ENSP00000507496.1:p.Gly1383Ala
ENST00000684010.1:n.4358G>C
ENST00000684157.1:n.5348G>C
ENST00000684253.1:n.4266G>C
ENST00000684288.1:c.*2320G>C	ENSP00000507143.1:n.*2320G>C
ENST00000684313.1:n.3795G>C
ENST00000684332.1:n.4436G>C
ENST00000684371.1:n.4469G>C
ENST00000684404.1:n.5391G>C
ENST00000684442.1:n.4587G>C
ENST00000684555.1:c.*2360G>C	ENSP00000507705.1:n.*2360G>C
ENST00000684571.1:c.3989G>C	ENSP00000506935.1:p.Gly1330Ala
ENST00000684593.1:c.*3853G>C	ENSP00000507005.1:n.*3853G>C
ENST00000684711.1:c.*2544G>C	ENSP00000506841.1:n.*2544G>C
ENST00000302539.9:c.4151G>C	ENSP00000303960.4:p.Gly1384Ala
ENST00000389817.8:c.4148G>C MANE Select	ENSP00000374467.4:p.Gly1383Ala
ENST00000642271.1:c.4145G>C	ENSP00000493749.1:p.Gly1382Ala
ENST00000642579.1:c.2202G>C
ENST00000642611.1:n.5233G>C
ENST00000642902.1:c.3930G>C
ENST00000643260.1:c.4148G>C	ENSP00000494450.1:p.Gly1383Ala
ENST00000643562.1:c.*2270G>C	ENSP00000496124.1:n.*2270G>C
ENST00000643925.1:c.2788G>C
ENST00000644057.1:n.225G>C
ENST00000644484.1:c.*3534G>C	ENSP00000493558.1:n.*3534G>C
ENST00000644675.1:c.*2320G>C	ENSP00000494567.1:n.*2320G>C
ENST00000644757.1:c.*3202+362G>C	ENSP00000495085.1:n.*3202+362G>C
ENST00000644772.1:c.4214G>C	ENSP00000494321.1:p.Gly1405Ala
ENST00000645004.1:n.1841G>C
ENST00000645076.1:c.3347G>C
ENST00000645417.1:c.1336G>C
ENST00000645744.1:c.*3913G>C	ENSP00000494564.1:n.*3913G>C
ENST00000645760.1:c.4569G>C
ENST00000645884.1:c.*1431G>C	ENSP00000495516.1:n.*1431G>C
ENST00000646003.1:c.*2250G>C	ENSP00000495259.1:n.*2250G>C
ENST00000646207.1:c.*2985G>C	ENSP00000495025.1:n.*2985G>C
ENST00000646276.1:c.*3552G>C	ENSP00000496070.1:n.*3552G>C
ENST00000646592.1:c.3454G>C
ENST00000646902.1:c.4115G>C	ENSP00000494101.1:p.Gly1372Ala
ENST00000646993.1:c.*2690G>C	ENSP00000493720.1:n.*2690G>C
ENST00000647013.1:c.4154G>C	ENSP00000496741.1:n.4154G>C
ENST00000647015.1:c.3899G>C	ENSP00000495389.1:p.Gly1300Ala
ENST00000647086.1:c.*3734G>C	ENSP00000493677.1:n.*3734G>C
ENST00000647158.1:c.*2435G>C	ENSP00000495744.1:n.*2435G>C
ENST00000302539.8:c.4151G>C	ENSP00000303960.4:p.Gly1384Ala
ENST00000389817.7:c.4148G>C	ENSP00000374467.3:p.Gly1383Ala
ENST00000525022.1:n.14G>C
ENST00000526168.5:c.16G>C
NM_000352.4:c.4148G>C	NP_000343.2:p.Gly1383Ala
NM_001287174.1:c.4151G>C	NP_001274103.1:p.Gly1384Ala
XM_011520331.1:c.4148G>C	XP_011518633.1:p.Gly1383Ala
XM_011520332.1:c.4151G>C	XP_011518634.1:p.Gly1384Ala
XM_011520333.1:c.2648G>C	XP_011518635.1:p.Gly883Ala
XR_930890.1:n.4214G>C
NM_001351295.1:c.4214G>C	NP_001338224.1:p.Gly1405Ala
NM_001351296.1:c.4148G>C	NP_001338225.1:p.Gly1383Ala
NM_001351297.1:c.4145G>C	NP_001338226.1:p.Gly1382Ala
NR_147094.1:n.4443G>C
XM_017018197.2:c.4217G>C	XP_016873686.1:p.Gly1406Ala
XM_017018199.1:c.4214G>C	XP_016873688.1:p.Gly1405Ala
XM_017018201.2:c.4217G>C	XP_016873690.1:p.Gly1406Ala
XM_017018202.1:c.2714G>C	XP_016873691.1:p.Gly905Ala
XM_017018204.1:c.2105G>C	XP_016873693.1:p.Gly702Ala
XM_024448668.1:c.2516G>C	XP_024304436.1:p.Gly839Ala
XR_001747945.2:n.4289G>C
XR_001747946.2:n.4220G>C
XR_002957189.1:n.5870G>C
NM_000352.6:c.4148G>C MANE Select	NP_000343.2:p.Gly1383Ala
NM_001287174.2:c.4151G>C	NP_001274103.1:p.Gly1384Ala
NM_001351295.2:c.4214G>C	NP_001338224.1:p.Gly1405Ala
NM_001351296.2:c.4148G>C	NP_001338225.1:p.Gly1383Ala
NM_001351297.2:c.4145G>C	NP_001338226.1:p.Gly1382Ala
NR_147094.2:n.4443G>C
NM_001287174.3:c.4151G>C	NP_001274103.1:p.Gly1384Ala