Canonical Allele Identifier: CA379785860

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395257-C-A
• MyVariant Identifiers: chr11:g.17416804C>A (hg19) ; chr11:g.17395257C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395257C>A , CM000673.2:g.17395257C>A	GRCh38
NC_000011.9:g.17416804C>A , CM000673.1:g.17416804C>A	GRCh37
NC_000011.8:g.17373380C>A	NCBI36
NG_008867.1:g.86646G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3927G>T
ENST00000526037.6:n.261G>T
ENST00000528374.2:c.917G>T
ENST00000529967.6:n.2665G>T
ENST00000532220.2:n.3559G>T
ENST00000642611.2:n.5659G>T
ENST00000644057.2:n.902G>T
ENST00000645004.2:n.1825G>T
ENST00000682051.1:n.4488G>T
ENST00000682110.1:n.4541G>T
ENST00000682140.1:c.*112G>T	ENSP00000507829.1:n.*112G>T
ENST00000682185.1:n.5631G>T
ENST00000682204.1:c.*2464G>T	ENSP00000507094.1:n.*2464G>T
ENST00000682215.1:n.4908G>T
ENST00000682288.1:c.*2757G>T	ENSP00000507506.1:n.*2757G>T
ENST00000682442.1:n.4761G>T
ENST00000682528.1:n.4618G>T
ENST00000682673.1:n.4485G>T
ENST00000682805.1:n.4946G>T
ENST00000682965.1:c.*748G>T	ENSP00000508229.1:n.*748G>T
ENST00000683093.1:n.5606+353G>T
ENST00000683136.1:c.4209G>T	ENSP00000507768.1:p.Glu1403Asp
ENST00000683153.1:n.4583G>T
ENST00000683365.1:n.4643G>T
ENST00000683377.1:n.4522+353G>T
ENST00000683456.1:c.*1463G>T	ENSP00000508318.1:n.*1463G>T
ENST00000683522.1:n.4541G>T
ENST00000683562.1:c.*2476+353G>T	ENSP00000508265.1:n.*2476+353G>T
ENST00000683693.1:n.6087+353G>T
ENST00000683725.1:c.4307+353G>T	ENSP00000507496.1:n.4307+353G>T
ENST00000684010.1:n.4536G>T
ENST00000684157.1:n.5526G>T
ENST00000684253.1:n.4444G>T
ENST00000684288.1:c.*2498G>T	ENSP00000507143.1:n.*2498G>T
ENST00000684313.1:n.3973G>T
ENST00000684332.1:n.4614G>T
ENST00000684371.1:n.4647G>T
ENST00000684404.1:n.5569G>T
ENST00000684442.1:n.4765G>T
ENST00000684555.1:c.*2538G>T	ENSP00000507705.1:n.*2538G>T
ENST00000684571.1:c.4167G>T	ENSP00000506935.1:p.Glu1389Asp
ENST00000684593.1:c.*4031G>T	ENSP00000507005.1:n.*4031G>T
ENST00000684711.1:c.*2722G>T	ENSP00000506841.1:n.*2722G>T
ENST00000302539.9:c.4329G>T	ENSP00000303960.4:p.Glu1443Asp
ENST00000389817.8:c.4326G>T MANE Select	ENSP00000374467.4:p.Glu1442Asp
ENST00000642271.1:c.4323G>T	ENSP00000493749.1:p.Glu1441Asp
ENST00000642579.1:c.2380G>T
ENST00000642611.1:n.5544G>T
ENST00000642902.1:c.4108G>T
ENST00000643260.1:c.4326G>T	ENSP00000494450.1:p.Glu1442Asp
ENST00000643562.1:c.*2448G>T	ENSP00000496124.1:n.*2448G>T
ENST00000643925.1:c.2966G>T
ENST00000644057.1:n.403G>T
ENST00000644484.1:c.*3712G>T	ENSP00000493558.1:n.*3712G>T
ENST00000644675.1:c.*2498G>T	ENSP00000494567.1:n.*2498G>T
ENST00000644757.1:c.*3202+1007G>T	ENSP00000495085.1:n.*3202+1007G>T
ENST00000644772.1:c.4392G>T	ENSP00000494321.1:p.Glu1464Asp
ENST00000645004.1:n.2019G>T
ENST00000645076.1:c.3506+353G>T
ENST00000645417.1:c.1514G>T
ENST00000645744.1:c.*4011G>T	ENSP00000494564.1:n.*4011G>T
ENST00000645760.1:c.4747G>T
ENST00000645884.1:c.*1609G>T	ENSP00000495516.1:n.*1609G>T
ENST00000646003.1:c.*2348G>T	ENSP00000495259.1:n.*2348G>T
ENST00000646207.1:c.*3163G>T	ENSP00000495025.1:n.*3163G>T
ENST00000646276.1:c.*3730G>T	ENSP00000496070.1:n.*3730G>T
ENST00000646592.1:c.3632G>T
ENST00000646902.1:c.4293G>T	ENSP00000494101.1:p.Glu1431Asp
ENST00000646993.1:c.*2849+353G>T	ENSP00000493720.1:n.*2849+353G>T
ENST00000647013.1:c.4332G>T	ENSP00000496741.1:n.4332G>T
ENST00000647015.1:c.4077G>T	ENSP00000495389.1:p.Glu1359Asp
ENST00000647086.1:c.*3912G>T	ENSP00000493677.1:n.*3912G>T
ENST00000647158.1:c.*2613G>T	ENSP00000495744.1:n.*2613G>T
ENST00000302539.8:c.4329G>T	ENSP00000303960.4:p.Glu1443Asp
ENST00000389817.7:c.4326G>T	ENSP00000374467.3:p.Glu1442Asp
ENST00000525022.1:n.306+353G>T
ENST00000526037.5:n.171+353G>T
ENST00000526168.5:c.114G>T
ENST00000531642.5:c.357G>T
NM_000352.4:c.4326G>T	NP_000343.2:p.Glu1442Asp
NM_001287174.1:c.4329G>T	NP_001274103.1:p.Glu1443Asp
XM_011520331.1:c.4326G>T	XP_011518633.1:p.Glu1442Asp
XM_011520332.1:c.4310+353G>T	XP_011518634.1:n.4310+353G>T
XM_011520333.1:c.2826G>T	XP_011518635.1:p.Glu942Asp
XR_930890.1:n.4373+353G>T
NM_001351295.1:c.4392G>T	NP_001338224.1:p.Glu1464Asp
NM_001351296.1:c.4326G>T	NP_001338225.1:p.Glu1442Asp
NM_001351297.1:c.4323G>T	NP_001338226.1:p.Glu1441Asp
NR_147094.1:n.4621G>T
XM_017018197.2:c.4395G>T	XP_016873686.1:p.Glu1465Asp
XM_017018199.1:c.4392G>T	XP_016873688.1:p.Glu1464Asp
XM_017018201.2:c.4376+353G>T	XP_016873690.1:n.4376+353G>T
XM_017018202.1:c.2892G>T	XP_016873691.1:p.Glu964Asp
XM_017018204.1:c.2283G>T	XP_016873693.1:p.Glu761Asp
XM_024448668.1:c.2694G>T	XP_024304436.1:p.Glu898Asp
XR_001747945.2:n.4448+353G>T
XR_001747946.2:n.4379+353G>T
XR_002957189.1:n.6162+353G>T
NM_000352.6:c.4326G>T MANE Select	NP_000343.2:p.Glu1442Asp
NM_001287174.2:c.4329G>T	NP_001274103.1:p.Glu1443Asp
NM_001351295.2:c.4392G>T	NP_001338224.1:p.Glu1464Asp
NM_001351296.2:c.4326G>T	NP_001338225.1:p.Glu1442Asp
NM_001351297.2:c.4323G>T	NP_001338226.1:p.Glu1441Asp
NR_147094.2:n.4621G>T
NM_001287174.3:c.4329G>T	NP_001274103.1:p.Glu1443Asp