Canonical Allele Identifier: CA379782829

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394292-C-A
• MyVariant Identifiers: chr11:g.17415839C>A (hg19) ; chr11:g.17394292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394292C>A , CM000673.2:g.17394292C>A	GRCh38
NC_000011.9:g.17415839C>A , CM000673.1:g.17415839C>A	GRCh37
NC_000011.8:g.17372415C>A	NCBI36
NG_008867.1:g.87611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4120G>T
ENST00000526037.6:n.454G>T
ENST00000528374.2:c.1110G>T
ENST00000529967.6:n.2858G>T
ENST00000532220.2:n.3752G>T
ENST00000642611.2:n.5852G>T
ENST00000644057.2:n.1095G>T
ENST00000645004.2:n.2018G>T
ENST00000682051.1:n.4681G>T
ENST00000682110.1:n.4734G>T
ENST00000682140.1:c.*305G>T	ENSP00000507829.1:n.*305G>T
ENST00000682185.1:n.5824G>T
ENST00000682204.1:c.*2657G>T	ENSP00000507094.1:n.*2657G>T
ENST00000682215.1:n.5101G>T
ENST00000682288.1:c.*2950G>T	ENSP00000507506.1:n.*2950G>T
ENST00000682442.1:n.4954G>T
ENST00000682528.1:n.4811G>T
ENST00000682673.1:n.4678G>T
ENST00000682805.1:n.5139G>T
ENST00000682965.1:c.*941G>T	ENSP00000508229.1:n.*941G>T
ENST00000683093.1:n.5714G>T
ENST00000683136.1:c.4402G>T	ENSP00000507768.1:p.Ala1468Ser
ENST00000683153.1:n.4776G>T
ENST00000683365.1:n.4836G>T
ENST00000683377.1:n.4630G>T
ENST00000683456.1:c.*1656G>T	ENSP00000508318.1:n.*1656G>T
ENST00000683522.1:n.4816G>T
ENST00000683562.1:c.*2584G>T	ENSP00000508265.1:n.*2584G>T
ENST00000683693.1:n.6195G>T
ENST00000683725.1:c.4415G>T	ENSP00000507496.1:p.Gly1472Val
ENST00000684010.1:n.4729G>T
ENST00000684014.1:n.706G>T
ENST00000684157.1:n.5719G>T
ENST00000684253.1:n.4637G>T
ENST00000684288.1:c.*2691G>T	ENSP00000507143.1:n.*2691G>T
ENST00000684313.1:n.4166G>T
ENST00000684332.1:n.4807G>T
ENST00000684371.1:n.4840G>T
ENST00000684404.1:n.5762G>T
ENST00000684442.1:n.4958G>T
ENST00000684555.1:c.*2731G>T	ENSP00000507705.1:n.*2731G>T
ENST00000684571.1:c.4360G>T	ENSP00000506935.1:p.Ala1454Ser
ENST00000684593.1:c.*4224G>T	ENSP00000507005.1:n.*4224G>T
ENST00000684711.1:c.*2915G>T	ENSP00000506841.1:n.*2915G>T
ENST00000302539.9:c.4522G>T	ENSP00000303960.4:p.Ala1508Ser
ENST00000389817.8:c.4519G>T MANE Select	ENSP00000374467.4:p.Ala1507Ser
ENST00000642271.1:c.4516G>T	ENSP00000493749.1:p.Ala1506Ser
ENST00000642579.1:c.2573G>T
ENST00000642611.1:n.5737G>T
ENST00000642902.1:c.4301G>T
ENST00000643260.1:c.4519G>T	ENSP00000494450.1:p.Ala1507Ser
ENST00000643562.1:c.*2641G>T	ENSP00000496124.1:n.*2641G>T
ENST00000643925.1:c.3159G>T
ENST00000644057.1:n.678G>T
ENST00000644484.1:c.*3905G>T	ENSP00000493558.1:n.*3905G>T
ENST00000644675.1:c.*2691G>T	ENSP00000494567.1:n.*2691G>T
ENST00000644757.1:c.*3203-1312G>T	ENSP00000495085.1:n.*3203-1312G>T
ENST00000644772.1:c.4585G>T	ENSP00000494321.1:p.Ala1529Ser
ENST00000645004.1:n.2212G>T
ENST00000645076.1:c.3614G>T
ENST00000645417.1:c.1707G>T
ENST00000645744.1:c.*4204G>T	ENSP00000494564.1:n.*4204G>T
ENST00000645760.1:c.4940G>T
ENST00000645884.1:c.*1802G>T	ENSP00000495516.1:n.*1802G>T
ENST00000646003.1:c.*2541G>T	ENSP00000495259.1:n.*2541G>T
ENST00000646207.1:c.*3356G>T	ENSP00000495025.1:n.*3356G>T
ENST00000646276.1:c.*3923G>T	ENSP00000496070.1:n.*3923G>T
ENST00000646592.1:c.3825G>T
ENST00000646902.1:c.4486G>T	ENSP00000494101.1:p.Ala1496Ser
ENST00000646993.1:c.*2957G>T	ENSP00000493720.1:n.*2957G>T
ENST00000647013.1:c.4525G>T	ENSP00000496741.1:n.4525G>T
ENST00000647015.1:c.4270G>T	ENSP00000495389.1:p.Ala1424Ser
ENST00000647086.1:c.*4105G>T	ENSP00000493677.1:n.*4105G>T
ENST00000647158.1:c.*2806G>T	ENSP00000495744.1:n.*2806G>T
ENST00000302539.8:c.4522G>T	ENSP00000303960.4:p.Ala1508Ser
ENST00000389817.7:c.4519G>T	ENSP00000374467.3:p.Ala1507Ser
ENST00000525022.1:n.414G>T
ENST00000526037.5:n.279G>T
ENST00000526168.5:c.307G>T
ENST00000531642.5:c.550G>T
NM_000352.4:c.4519G>T	NP_000343.2:p.Ala1507Ser
NM_001287174.1:c.4522G>T	NP_001274103.1:p.Ala1508Ser
XM_011520331.1:c.4519G>T	XP_011518633.1:p.Ala1507Ser
XM_011520332.1:c.4418G>T	XP_011518634.1:p.Gly1473Val
XM_011520333.1:c.3019G>T	XP_011518635.1:p.Ala1007Ser
XR_930890.1:n.4481G>T
NM_001351295.1:c.4585G>T	NP_001338224.1:p.Ala1529Ser
NM_001351296.1:c.4519G>T	NP_001338225.1:p.Ala1507Ser
NM_001351297.1:c.4516G>T	NP_001338226.1:p.Ala1506Ser
NR_147094.1:n.4814G>T
XM_017018197.2:c.4588G>T	XP_016873686.1:p.Ala1530Ser
XM_017018199.1:c.4585G>T	XP_016873688.1:p.Ala1529Ser
XM_017018201.2:c.4484G>T	XP_016873690.1:p.Gly1495Val
XM_017018202.1:c.3085G>T	XP_016873691.1:p.Ala1029Ser
XM_017018204.1:c.2476G>T	XP_016873693.1:p.Ala826Ser
XM_024448668.1:c.2887G>T	XP_024304436.1:p.Ala963Ser
XR_001747945.2:n.4556G>T
XR_001747946.2:n.4487G>T
XR_002957189.1:n.6270G>T
NM_000352.6:c.4519G>T MANE Select	NP_000343.2:p.Ala1507Ser
NM_001287174.2:c.4522G>T	NP_001274103.1:p.Ala1508Ser
NM_001351295.2:c.4585G>T	NP_001338224.1:p.Ala1529Ser
NM_001351296.2:c.4519G>T	NP_001338225.1:p.Ala1507Ser
NM_001351297.2:c.4516G>T	NP_001338226.1:p.Ala1506Ser
NR_147094.2:n.4814G>T
NM_001287174.3:c.4522G>T	NP_001274103.1:p.Ala1508Ser