Canonical Allele Identifier: CA379803142

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17406905-T-A
• MyVariant Identifiers: chr11:g.17428452T>A (hg19) ; chr11:g.17406905T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406905T>A , CM000673.2:g.17406905T>A	GRCh38
NC_000011.9:g.17428452T>A , CM000673.1:g.17428452T>A	GRCh37
NC_000011.8:g.17385028T>A	NCBI36
NG_008867.1:g.74998A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2714A>T
ENST00000529967.6:n.1484A>T
ENST00000532220.2:n.877A>T
ENST00000642611.2:n.3214A>T
ENST00000645004.2:n.644A>T
ENST00000682051.1:n.3161A>T
ENST00000682110.1:n.3214A>T
ENST00000682140.1:c.3142A>T	ENSP00000507829.1:p.Asn1048Tyr
ENST00000682185.1:n.4450A>T
ENST00000682204.1:c.*1283A>T	ENSP00000507094.1:n.*1283A>T
ENST00000682215.1:n.3211A>T
ENST00000682288.1:c.*1576A>T	ENSP00000507506.1:n.*1576A>T
ENST00000682442.1:n.3335A>T
ENST00000682528.1:n.3291A>T
ENST00000682673.1:n.3158A>T
ENST00000682805.1:n.3211A>T
ENST00000682965.1:c.3142A>T	ENSP00000508229.1:p.Asn1048Tyr
ENST00000683093.1:n.3313A>T
ENST00000683136.1:c.3142A>T	ENSP00000507768.1:p.Asn1048Tyr
ENST00000683153.1:n.3370A>T
ENST00000683365.1:n.3316A>T
ENST00000683377.1:n.3214A>T
ENST00000683456.1:c.*282A>T	ENSP00000508318.1:n.*282A>T
ENST00000683522.1:n.3214A>T
ENST00000683562.1:c.*1314A>T	ENSP00000508265.1:n.*1314A>T
ENST00000683693.1:n.3291A>T
ENST00000683725.1:c.3145A>T	ENSP00000507496.1:p.Asn1049Tyr
ENST00000684010.1:n.3209A>T
ENST00000684157.1:n.3214A>T
ENST00000684253.1:n.3117A>T
ENST00000684288.1:c.*1317A>T	ENSP00000507143.1:n.*1317A>T
ENST00000684313.1:n.2646A>T
ENST00000684332.1:n.3287A>T
ENST00000684371.1:n.3320A>T
ENST00000684404.1:n.3257A>T
ENST00000684442.1:n.3214A>T
ENST00000684555.1:c.*1357A>T	ENSP00000507705.1:n.*1357A>T
ENST00000684571.1:c.2986A>T	ENSP00000506935.1:p.Asn996Tyr
ENST00000684593.1:c.*2850A>T	ENSP00000507005.1:n.*2850A>T
ENST00000684711.1:c.*1541A>T	ENSP00000506841.1:n.*1541A>T
ENST00000302539.9:c.3148A>T	ENSP00000303960.4:p.Asn1050Tyr
ENST00000389817.8:c.3145A>T MANE Select	ENSP00000374467.4:p.Asn1049Tyr
ENST00000642271.1:c.3142A>T	ENSP00000493749.1:p.Asn1048Tyr
ENST00000642579.1:c.1229A>T
ENST00000642611.1:n.3099A>T
ENST00000642902.1:c.2927A>T
ENST00000643260.1:c.3145A>T	ENSP00000494450.1:p.Asn1049Tyr
ENST00000643562.1:c.*1121A>T	ENSP00000496124.1:n.*1121A>T
ENST00000643925.1:c.1269A>T
ENST00000644447.1:c.1501A>T	ENSP00000496282.1:p.Asn501Tyr
ENST00000644484.1:c.*1400A>T	ENSP00000493558.1:n.*1400A>T
ENST00000644542.1:c.*2850A>T	ENSP00000495532.1:n.*2850A>T
ENST00000644675.1:c.*1317A>T	ENSP00000494567.1:n.*1317A>T
ENST00000644757.1:c.*1430A>T	ENSP00000495085.1:n.*1430A>T
ENST00000644772.1:c.3211A>T	ENSP00000494321.1:p.Asn1071Tyr
ENST00000645004.1:n.284A>T
ENST00000645076.1:c.2344A>T
ENST00000645417.1:c.311A>T
ENST00000645744.1:c.*1409A>T	ENSP00000494564.1:n.*1409A>T
ENST00000645760.1:c.3420A>T
ENST00000645884.1:c.*282A>T	ENSP00000495516.1:n.*282A>T
ENST00000646003.1:c.*1101A>T	ENSP00000495259.1:n.*1101A>T
ENST00000646207.1:c.*1612A>T	ENSP00000495025.1:n.*1612A>T
ENST00000646276.1:c.*1418A>T	ENSP00000496070.1:n.*1418A>T
ENST00000646592.1:c.2451A>T
ENST00000646902.1:c.3142A>T	ENSP00000494101.1:p.Asn1048Tyr
ENST00000646993.1:c.*1541A>T	ENSP00000493720.1:n.*1541A>T
ENST00000647013.1:c.3151A>T	ENSP00000496741.1:n.3151A>T
ENST00000647015.1:c.2896A>T	ENSP00000495389.1:p.Asn966Tyr
ENST00000647086.1:c.*2875A>T	ENSP00000493677.1:n.*2875A>T
ENST00000647158.1:c.*1286A>T	ENSP00000495744.1:n.*1286A>T
ENST00000302539.8:c.3148A>T	ENSP00000303960.4:p.Asn1050Tyr
ENST00000389817.7:c.3145A>T	ENSP00000374467.3:p.Asn1049Tyr
ENST00000524561.1:n.277A>T
ENST00000526921.5:n.829A>T
ENST00000527905.5:c.*21A>T	ENSP00000431653.1:n.*21A>T
ENST00000529967.5:n.814A>T
NM_000352.4:c.3145A>T	NP_000343.2:p.Asn1049Tyr
NM_001287174.1:c.3148A>T	NP_001274103.1:p.Asn1050Tyr
XM_011520331.1:c.3145A>T	XP_011518633.1:p.Asn1049Tyr
XM_011520332.1:c.3148A>T	XP_011518634.1:p.Asn1050Tyr
XM_011520333.1:c.1645A>T	XP_011518635.1:p.Asn549Tyr
XR_930890.1:n.3211A>T
XR_930891.1:n.3211A>T
XR_930892.1:n.3111A>T
XR_930893.1:n.3108A>T
NM_001351295.1:c.3211A>T	NP_001338224.1:p.Asn1071Tyr
NM_001351296.1:c.3145A>T	NP_001338225.1:p.Asn1049Tyr
NM_001351297.1:c.3142A>T	NP_001338226.1:p.Asn1048Tyr
NR_147094.1:n.3294A>T
XM_017018197.2:c.3214A>T	XP_016873686.1:p.Asn1072Tyr
XM_017018199.1:c.3211A>T	XP_016873688.1:p.Asn1071Tyr
XM_017018201.2:c.3214A>T	XP_016873690.1:p.Asn1072Tyr
XM_017018202.1:c.1711A>T	XP_016873691.1:p.Asn571Tyr
XM_017018204.1:c.1102A>T	XP_016873693.1:p.Asn368Tyr
XM_024448668.1:c.1513A>T	XP_024304436.1:p.Asn505Tyr
XR_001747945.2:n.3286A>T
XR_001747946.2:n.3217A>T
XR_002957189.1:n.3366A>T
NM_000352.6:c.3145A>T MANE Select	NP_000343.2:p.Asn1049Tyr
NM_001287174.2:c.3148A>T	NP_001274103.1:p.Asn1050Tyr
NM_001351295.2:c.3211A>T	NP_001338224.1:p.Asn1071Tyr
NM_001351296.2:c.3145A>T	NP_001338225.1:p.Asn1049Tyr
NM_001351297.2:c.3142A>T	NP_001338226.1:p.Asn1048Tyr
NR_147094.2:n.3294A>T
NM_001287174.3:c.3148A>T	NP_001274103.1:p.Asn1050Tyr