Canonical Allele Identifier: CA379786696

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 551435
• ClinVar RCV Id: RCV000666495
• dbSNP Id: rs1446306735
• gnomAD v4: 11-17395664-C-A
• MyVariant Identifiers: chr11:g.17417211C>A (hg19) ; chr11:g.17395664C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395664C>A , CM000673.2:g.17395664C>A	GRCh38
NC_000011.9:g.17417211C>A , CM000673.1:g.17417211C>A	GRCh37
NC_000011.8:g.17373787C>A	NCBI36
NG_008867.1:g.86239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3854G>T
ENST00000528374.2:c.844G>T
ENST00000529967.6:n.2592G>T
ENST00000532220.2:n.3486G>T
ENST00000642611.2:n.5586G>T
ENST00000644057.2:n.829G>T
ENST00000645004.2:n.1752G>T
ENST00000682051.1:n.4415G>T
ENST00000682110.1:n.4468G>T
ENST00000682140.1:c.*39G>T	ENSP00000507829.1:n.*39G>T
ENST00000682185.1:n.5558G>T
ENST00000682204.1:c.*2391G>T	ENSP00000507094.1:n.*2391G>T
ENST00000682215.1:n.4835G>T
ENST00000682288.1:c.*2684G>T	ENSP00000507506.1:n.*2684G>T
ENST00000682442.1:n.4688G>T
ENST00000682528.1:n.4545G>T
ENST00000682673.1:n.4412G>T
ENST00000682805.1:n.4873G>T
ENST00000682965.1:c.*675G>T	ENSP00000508229.1:n.*675G>T
ENST00000683093.1:n.5552G>T
ENST00000683136.1:c.4136G>T	ENSP00000507768.1:p.Arg1379Leu
ENST00000683153.1:n.4510G>T
ENST00000683365.1:n.4570G>T
ENST00000683377.1:n.4468G>T
ENST00000683456.1:c.*1390G>T	ENSP00000508318.1:n.*1390G>T
ENST00000683522.1:n.4468G>T
ENST00000683562.1:c.*2422G>T	ENSP00000508265.1:n.*2422G>T
ENST00000683693.1:n.6033G>T
ENST00000683725.1:c.4253G>T	ENSP00000507496.1:p.Arg1418Leu
ENST00000684010.1:n.4463G>T
ENST00000684157.1:n.5453G>T
ENST00000684253.1:n.4371G>T
ENST00000684288.1:c.*2425G>T	ENSP00000507143.1:n.*2425G>T
ENST00000684313.1:n.3900G>T
ENST00000684332.1:n.4541G>T
ENST00000684371.1:n.4574G>T
ENST00000684404.1:n.5496G>T
ENST00000684442.1:n.4692G>T
ENST00000684555.1:c.*2465G>T	ENSP00000507705.1:n.*2465G>T
ENST00000684571.1:c.4094G>T	ENSP00000506935.1:p.Arg1365Leu
ENST00000684593.1:c.*3958G>T	ENSP00000507005.1:n.*3958G>T
ENST00000684711.1:c.*2649G>T	ENSP00000506841.1:n.*2649G>T
ENST00000302539.9:c.4256G>T	ENSP00000303960.4:p.Arg1419Leu
ENST00000389817.8:c.4253G>T MANE Select	ENSP00000374467.4:p.Arg1418Leu
ENST00000642271.1:c.4250G>T	ENSP00000493749.1:p.Arg1417Leu
ENST00000642579.1:c.2307G>T
ENST00000642611.1:n.5471G>T
ENST00000642902.1:c.4035G>T
ENST00000643260.1:c.4253G>T	ENSP00000494450.1:p.Arg1418Leu
ENST00000643562.1:c.*2375G>T	ENSP00000496124.1:n.*2375G>T
ENST00000643925.1:c.2893G>T
ENST00000644057.1:n.330G>T
ENST00000644484.1:c.*3639G>T	ENSP00000493558.1:n.*3639G>T
ENST00000644675.1:c.*2425G>T	ENSP00000494567.1:n.*2425G>T
ENST00000644757.1:c.*3202+600G>T	ENSP00000495085.1:n.*3202+600G>T
ENST00000644772.1:c.4319G>T	ENSP00000494321.1:p.Arg1440Leu
ENST00000645004.1:n.1946G>T
ENST00000645076.1:c.3452G>T
ENST00000645417.1:c.1441G>T
ENST00000645744.1:c.*3964-26G>T	ENSP00000494564.1:n.*3964-26G>T
ENST00000645760.1:c.4674G>T
ENST00000645884.1:c.*1536G>T	ENSP00000495516.1:n.*1536G>T
ENST00000646003.1:c.*2301-26G>T	ENSP00000495259.1:n.*2301-26G>T
ENST00000646207.1:c.*3090G>T	ENSP00000495025.1:n.*3090G>T
ENST00000646276.1:c.*3657G>T	ENSP00000496070.1:n.*3657G>T
ENST00000646592.1:c.3559G>T
ENST00000646902.1:c.4220G>T	ENSP00000494101.1:p.Arg1407Leu
ENST00000646993.1:c.*2795G>T	ENSP00000493720.1:n.*2795G>T
ENST00000647013.1:c.4259G>T	ENSP00000496741.1:n.4259G>T
ENST00000647015.1:c.4004G>T	ENSP00000495389.1:p.Arg1335Leu
ENST00000647086.1:c.*3839G>T	ENSP00000493677.1:n.*3839G>T
ENST00000647158.1:c.*2540G>T	ENSP00000495744.1:n.*2540G>T
ENST00000302539.8:c.4256G>T	ENSP00000303960.4:p.Arg1419Leu
ENST00000389817.7:c.4253G>T	ENSP00000374467.3:p.Arg1418Leu
ENST00000525022.1:n.252G>T
ENST00000526037.5:n.117G>T
ENST00000526168.5:c.67-26G>T
ENST00000531642.5:c.89G>T
NM_000352.4:c.4253G>T	NP_000343.2:p.Arg1418Leu
NM_001287174.1:c.4256G>T	NP_001274103.1:p.Arg1419Leu
XM_011520331.1:c.4253G>T	XP_011518633.1:p.Arg1418Leu
XM_011520332.1:c.4256G>T	XP_011518634.1:p.Arg1419Leu
XM_011520333.1:c.2753G>T	XP_011518635.1:p.Arg918Leu
XR_930890.1:n.4319G>T
NM_001351295.1:c.4319G>T	NP_001338224.1:p.Arg1440Leu
NM_001351296.1:c.4253G>T	NP_001338225.1:p.Arg1418Leu
NM_001351297.1:c.4250G>T	NP_001338226.1:p.Arg1417Leu
NR_147094.1:n.4548G>T
XM_017018197.2:c.4322G>T	XP_016873686.1:p.Arg1441Leu
XM_017018199.1:c.4319G>T	XP_016873688.1:p.Arg1440Leu
XM_017018201.2:c.4322G>T	XP_016873690.1:p.Arg1441Leu
XM_017018202.1:c.2819G>T	XP_016873691.1:p.Arg940Leu
XM_017018204.1:c.2210G>T	XP_016873693.1:p.Arg737Leu
XM_024448668.1:c.2621G>T	XP_024304436.1:p.Arg874Leu
XR_001747945.2:n.4394G>T
XR_001747946.2:n.4325G>T
XR_002957189.1:n.6108G>T
NM_000352.6:c.4253G>T MANE Select	NP_000343.2:p.Arg1418Leu
NM_001287174.2:c.4256G>T	NP_001274103.1:p.Arg1419Leu
NM_001351295.2:c.4319G>T	NP_001338224.1:p.Arg1440Leu
NM_001351296.2:c.4253G>T	NP_001338225.1:p.Arg1418Leu
NM_001351297.2:c.4250G>T	NP_001338226.1:p.Arg1417Leu
NR_147094.2:n.4548G>T
NM_001287174.3:c.4256G>T	NP_001274103.1:p.Arg1419Leu