Canonical Allele Identifier: CA218422487

Gene: ABCC8

Linked Data

• dbSNP Id: rs1048550519
• gnomAD v4: 11-17406698-C-T
• MyVariant Identifiers: chr11:g.17428245C>T (hg19) ; chr11:g.17406698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406698C>T , CM000673.2:g.17406698C>T	GRCh38
NC_000011.9:g.17428245C>T , CM000673.1:g.17428245C>T	GRCh37
NC_000011.8:g.17384821C>T	NCBI36
NG_008867.1:g.75205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2822G>A
ENST00000529967.6:n.1592G>A
ENST00000532220.2:n.985G>A
ENST00000642611.2:n.3322G>A
ENST00000645004.2:n.752G>A
ENST00000682051.1:n.3269G>A
ENST00000682110.1:n.3322G>A
ENST00000682140.1:c.3250G>A	ENSP00000507829.1:p.Val1084Met
ENST00000682185.1:n.4558G>A
ENST00000682204.1:c.*1391G>A	ENSP00000507094.1:n.*1391G>A
ENST00000682215.1:n.3319G>A
ENST00000682288.1:c.*1684G>A	ENSP00000507506.1:n.*1684G>A
ENST00000682442.1:n.3542G>A
ENST00000682528.1:n.3399G>A
ENST00000682673.1:n.3266G>A
ENST00000682805.1:n.3319G>A
ENST00000682965.1:c.3250G>A	ENSP00000508229.1:p.Val1084Met
ENST00000683093.1:n.3421G>A
ENST00000683136.1:c.3250G>A	ENSP00000507768.1:p.Val1084Met
ENST00000683153.1:n.3478G>A
ENST00000683365.1:n.3424G>A
ENST00000683377.1:n.3322G>A
ENST00000683456.1:c.*390G>A	ENSP00000508318.1:n.*390G>A
ENST00000683522.1:n.3322G>A
ENST00000683562.1:c.*1422G>A	ENSP00000508265.1:n.*1422G>A
ENST00000683693.1:n.3399G>A
ENST00000683725.1:c.3253G>A	ENSP00000507496.1:p.Val1085Met
ENST00000684010.1:n.3317G>A
ENST00000684157.1:n.3322G>A
ENST00000684253.1:n.3225G>A
ENST00000684288.1:c.*1425G>A	ENSP00000507143.1:n.*1425G>A
ENST00000684313.1:n.2754G>A
ENST00000684332.1:n.3395G>A
ENST00000684371.1:n.3428G>A
ENST00000684404.1:n.3365G>A
ENST00000684442.1:n.3322G>A
ENST00000684555.1:c.*1465G>A	ENSP00000507705.1:n.*1465G>A
ENST00000684571.1:c.3094G>A	ENSP00000506935.1:p.Val1032Met
ENST00000684593.1:c.*2958G>A	ENSP00000507005.1:n.*2958G>A
ENST00000684711.1:c.*1649G>A	ENSP00000506841.1:n.*1649G>A
ENST00000302539.9:c.3256G>A	ENSP00000303960.4:p.Val1086Met
ENST00000389817.8:c.3253G>A MANE Select	ENSP00000374467.4:p.Val1085Met
ENST00000642271.1:c.3250G>A	ENSP00000493749.1:p.Val1084Met
ENST00000642579.1:c.1337G>A
ENST00000642611.1:n.3207G>A
ENST00000642902.1:c.3035G>A
ENST00000643260.1:c.3253G>A	ENSP00000494450.1:p.Val1085Met
ENST00000643562.1:c.*1229G>A	ENSP00000496124.1:n.*1229G>A
ENST00000643925.1:c.1377G>A
ENST00000644447.1:c.1609G>A	ENSP00000496282.1:p.Val537Met
ENST00000644484.1:c.*1508G>A	ENSP00000493558.1:n.*1508G>A
ENST00000644542.1:c.*3057G>A	ENSP00000495532.1:n.*3057G>A
ENST00000644675.1:c.*1425G>A	ENSP00000494567.1:n.*1425G>A
ENST00000644757.1:c.*1538G>A	ENSP00000495085.1:n.*1538G>A
ENST00000644772.1:c.3319G>A	ENSP00000494321.1:p.Val1107Met
ENST00000645004.1:n.392G>A
ENST00000645076.1:c.2452G>A
ENST00000645417.1:c.419G>A
ENST00000645744.1:c.*1517G>A	ENSP00000494564.1:n.*1517G>A
ENST00000645760.1:c.3528G>A
ENST00000645884.1:c.*390G>A	ENSP00000495516.1:n.*390G>A
ENST00000646003.1:c.*1209G>A	ENSP00000495259.1:n.*1209G>A
ENST00000646207.1:c.*1720G>A	ENSP00000495025.1:n.*1720G>A
ENST00000646276.1:c.*1526G>A	ENSP00000496070.1:n.*1526G>A
ENST00000646592.1:c.2559G>A
ENST00000646902.1:c.3250G>A	ENSP00000494101.1:p.Val1084Met
ENST00000646993.1:c.*1649G>A	ENSP00000493720.1:n.*1649G>A
ENST00000647013.1:c.3259G>A	ENSP00000496741.1:n.3259G>A
ENST00000647015.1:c.3004G>A	ENSP00000495389.1:p.Val1002Met
ENST00000647086.1:c.*2983G>A	ENSP00000493677.1:n.*2983G>A
ENST00000647158.1:c.*1394G>A	ENSP00000495744.1:n.*1394G>A
ENST00000302539.8:c.3256G>A	ENSP00000303960.4:p.Val1086Met
ENST00000389817.7:c.3253G>A	ENSP00000374467.3:p.Val1085Met
ENST00000524561.1:n.385G>A
ENST00000526921.5:n.937G>A
ENST00000527905.5:c.*129G>A	ENSP00000431653.1:n.*129G>A
NM_000352.4:c.3253G>A	NP_000343.2:p.Val1085Met
NM_001287174.1:c.3256G>A	NP_001274103.1:p.Val1086Met
XM_011520331.1:c.3253G>A	XP_011518633.1:p.Val1085Met
XM_011520332.1:c.3256G>A	XP_011518634.1:p.Val1086Met
XM_011520333.1:c.1753G>A	XP_011518635.1:p.Val585Met
XR_930890.1:n.3319G>A
XR_930891.1:n.3319G>A
XR_930892.1:n.3219G>A
XR_930893.1:n.3216G>A
NM_001351295.1:c.3319G>A	NP_001338224.1:p.Val1107Met
NM_001351296.1:c.3253G>A	NP_001338225.1:p.Val1085Met
NM_001351297.1:c.3250G>A	NP_001338226.1:p.Val1084Met
NR_147094.1:n.3402G>A
XM_017018197.2:c.3322G>A	XP_016873686.1:p.Val1108Met
XM_017018199.1:c.3319G>A	XP_016873688.1:p.Val1107Met
XM_017018201.2:c.3322G>A	XP_016873690.1:p.Val1108Met
XM_017018202.1:c.1819G>A	XP_016873691.1:p.Val607Met
XM_017018204.1:c.1210G>A	XP_016873693.1:p.Val404Met
XM_024448668.1:c.1621G>A	XP_024304436.1:p.Val541Met
XR_001747945.2:n.3394G>A
XR_001747946.2:n.3325G>A
XR_002957189.1:n.3474G>A
NM_000352.6:c.3253G>A MANE Select	NP_000343.2:p.Val1085Met
NM_001287174.2:c.3256G>A	NP_001274103.1:p.Val1086Met
NM_001351295.2:c.3319G>A	NP_001338224.1:p.Val1107Met
NM_001351296.2:c.3253G>A	NP_001338225.1:p.Val1085Met
NM_001351297.2:c.3250G>A	NP_001338226.1:p.Val1084Met
NR_147094.2:n.3402G>A
NM_001287174.3:c.3256G>A	NP_001274103.1:p.Val1086Met