Canonical Allele Identifier: CA254633

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 9096
• ClinVar RCV Id: RCV000009664 ; RCV000710390 ; RCV001831558 ; RCV002243630 ; RCV002243631 ; RCV003466844
• dbSNP Id: rs28936371
• ExAC: 11:17415881 G / A
• gnomAD v2: 11-17415881-G-A
• gnomAD v3: 11-17394334-G-A
• gnomAD v4: 11-17394334-G-A
• MyVariant Identifiers: chr11:g.17415881G>A (hg19) ; chr11:g.17394334G>A (hg38)
• PubMed: PMID:1021286 ; PMID:9769320 ; PMID:10202168 ; PMID:15579781 ; PMID:17378627 ; PMID:18767144 ; PMID:20943779

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394334G>A , CM000673.2:g.17394334G>A	GRCh38
NC_000011.9:g.17415881G>A , CM000673.1:g.17415881G>A	GRCh37
NC_000011.8:g.17372457G>A	NCBI36
NG_008867.1:g.87569C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4078C>T
ENST00000526037.6:n.412C>T
ENST00000528374.2:c.1068C>T
ENST00000529967.6:n.2816C>T
ENST00000532220.2:n.3710C>T
ENST00000642611.2:n.5810C>T
ENST00000644057.2:n.1053C>T
ENST00000645004.2:n.1976C>T
ENST00000682051.1:n.4639C>T
ENST00000682110.1:n.4692C>T
ENST00000682140.1:c.*263C>T	ENSP00000507829.1:n.*263C>T
ENST00000682185.1:n.5782C>T
ENST00000682204.1:c.*2615C>T	ENSP00000507094.1:n.*2615C>T
ENST00000682215.1:n.5059C>T
ENST00000682288.1:c.*2908C>T	ENSP00000507506.1:n.*2908C>T
ENST00000682442.1:n.4912C>T
ENST00000682528.1:n.4769C>T
ENST00000682673.1:n.4636C>T
ENST00000682805.1:n.5097C>T
ENST00000682965.1:c.*899C>T	ENSP00000508229.1:n.*899C>T
ENST00000683093.1:n.5672C>T
ENST00000683136.1:c.4360C>T	ENSP00000507768.1:p.Arg1454Trp
ENST00000683153.1:n.4734C>T
ENST00000683365.1:n.4794C>T
ENST00000683377.1:n.4588C>T
ENST00000683456.1:c.*1614C>T	ENSP00000508318.1:n.*1614C>T
ENST00000683522.1:n.4774C>T
ENST00000683562.1:c.*2542C>T	ENSP00000508265.1:n.*2542C>T
ENST00000683693.1:n.6153C>T
ENST00000683725.1:c.4373C>T	ENSP00000507496.1:p.Pro1458Leu
ENST00000684010.1:n.4687C>T
ENST00000684014.1:n.664C>T
ENST00000684157.1:n.5677C>T
ENST00000684253.1:n.4595C>T
ENST00000684288.1:c.*2649C>T	ENSP00000507143.1:n.*2649C>T
ENST00000684313.1:n.4124C>T
ENST00000684332.1:n.4765C>T
ENST00000684371.1:n.4798C>T
ENST00000684404.1:n.5720C>T
ENST00000684442.1:n.4916C>T
ENST00000684555.1:c.*2689C>T	ENSP00000507705.1:n.*2689C>T
ENST00000684571.1:c.4318C>T	ENSP00000506935.1:p.Arg1440Trp
ENST00000684593.1:c.*4182C>T	ENSP00000507005.1:n.*4182C>T
ENST00000684711.1:c.*2873C>T	ENSP00000506841.1:n.*2873C>T
ENST00000302539.9:c.4480C>T	ENSP00000303960.4:p.Arg1494Trp
ENST00000389817.8:c.4477C>T MANE Select	ENSP00000374467.4:p.Arg1493Trp
ENST00000642271.1:c.4474C>T	ENSP00000493749.1:p.Arg1492Trp
ENST00000642579.1:c.2531C>T
ENST00000642611.1:n.5695C>T
ENST00000642902.1:c.4259C>T
ENST00000643260.1:c.4477C>T	ENSP00000494450.1:p.Arg1493Trp
ENST00000643562.1:c.*2599C>T	ENSP00000496124.1:n.*2599C>T
ENST00000643925.1:c.3117C>T
ENST00000644057.1:n.636C>T
ENST00000644484.1:c.*3863C>T	ENSP00000493558.1:n.*3863C>T
ENST00000644675.1:c.*2649C>T	ENSP00000494567.1:n.*2649C>T
ENST00000644757.1:c.*3203-1354C>T	ENSP00000495085.1:n.*3203-1354C>T
ENST00000644772.1:c.4543C>T	ENSP00000494321.1:p.Arg1515Trp
ENST00000645004.1:n.2170C>T
ENST00000645076.1:c.3572C>T
ENST00000645417.1:c.1665C>T
ENST00000645744.1:c.*4162C>T	ENSP00000494564.1:n.*4162C>T
ENST00000645760.1:c.4898C>T
ENST00000645884.1:c.*1760C>T	ENSP00000495516.1:n.*1760C>T
ENST00000646003.1:c.*2499C>T	ENSP00000495259.1:n.*2499C>T
ENST00000646207.1:c.*3314C>T	ENSP00000495025.1:n.*3314C>T
ENST00000646276.1:c.*3881C>T	ENSP00000496070.1:n.*3881C>T
ENST00000646592.1:c.3783C>T
ENST00000646902.1:c.4444C>T	ENSP00000494101.1:p.Arg1482Trp
ENST00000646993.1:c.*2915C>T	ENSP00000493720.1:n.*2915C>T
ENST00000647013.1:c.4483C>T	ENSP00000496741.1:n.4483C>T
ENST00000647015.1:c.4228C>T	ENSP00000495389.1:p.Arg1410Trp
ENST00000647086.1:c.*4063C>T	ENSP00000493677.1:n.*4063C>T
ENST00000647158.1:c.*2764C>T	ENSP00000495744.1:n.*2764C>T
ENST00000302539.8:c.4480C>T	ENSP00000303960.4:p.Arg1494Trp
ENST00000389817.7:c.4477C>T	ENSP00000374467.3:p.Arg1493Trp
ENST00000525022.1:n.372C>T
ENST00000526037.5:n.237C>T
ENST00000526168.5:c.265C>T
ENST00000531642.5:c.508C>T
NM_000352.4:c.4477C>T	NP_000343.2:p.Arg1493Trp
NM_001287174.1:c.4480C>T	NP_001274103.1:p.Arg1494Trp
XM_011520331.1:c.4477C>T	XP_011518633.1:p.Arg1493Trp
XM_011520332.1:c.4376C>T	XP_011518634.1:p.Pro1459Leu
XM_011520333.1:c.2977C>T	XP_011518635.1:p.Arg993Trp
XR_930890.1:n.4439C>T
NM_001351295.1:c.4543C>T	NP_001338224.1:p.Arg1515Trp
NM_001351296.1:c.4477C>T	NP_001338225.1:p.Arg1493Trp
NM_001351297.1:c.4474C>T	NP_001338226.1:p.Arg1492Trp
NR_147094.1:n.4772C>T
XM_017018197.2:c.4546C>T	XP_016873686.1:p.Arg1516Trp
XM_017018199.1:c.4543C>T	XP_016873688.1:p.Arg1515Trp
XM_017018201.2:c.4442C>T	XP_016873690.1:p.Pro1481Leu
XM_017018202.1:c.3043C>T	XP_016873691.1:p.Arg1015Trp
XM_017018204.1:c.2434C>T	XP_016873693.1:p.Arg812Trp
XM_024448668.1:c.2845C>T	XP_024304436.1:p.Arg949Trp
XR_001747945.2:n.4514C>T
XR_001747946.2:n.4445C>T
XR_002957189.1:n.6228C>T
NM_000352.6:c.4477C>T MANE Select	NP_000343.2:p.Arg1493Trp
NM_001287174.2:c.4480C>T	NP_001274103.1:p.Arg1494Trp
NM_001351295.2:c.4543C>T	NP_001338224.1:p.Arg1515Trp
NM_001351296.2:c.4477C>T	NP_001338225.1:p.Arg1493Trp
NM_001351297.2:c.4474C>T	NP_001338226.1:p.Arg1492Trp
NR_147094.2:n.4772C>T
NM_001287174.3:c.4480C>T	NP_001274103.1:p.Arg1494Trp