Canonical Allele Identifier: CA5902585

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1897240
• ClinVar RCV Id: RCV002572201
• dbSNP Id: rs746811190
• ExAC: 11:17418485 G / A
• gnomAD v2: 11-17418485-G-A
• gnomAD v3: 11-17396938-G-A
• gnomAD v4: 11-17396938-G-A
• MyVariant Identifiers: chr11:g.17418485G>A (hg19) ; chr11:g.17396938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396938G>A , CM000673.2:g.17396938G>A	GRCh38
NC_000011.9:g.17418485G>A , CM000673.1:g.17418485G>A	GRCh37
NC_000011.8:g.17375061G>A	NCBI36
NG_008867.1:g.84965C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3698C>T
ENST00000528374.2:c.688C>T
ENST00000529967.6:n.2436C>T
ENST00000532220.2:n.2345C>T
ENST00000642611.2:n.4312C>T
ENST00000644057.2:n.540C>T
ENST00000645004.2:n.1596C>T
ENST00000682051.1:n.4259C>T
ENST00000682110.1:n.4312C>T
ENST00000682140.1:c.3985+255C>T	ENSP00000507829.1:n.3985+255C>T
ENST00000682185.1:n.5402C>T
ENST00000682204.1:c.*2235C>T	ENSP00000507094.1:n.*2235C>T
ENST00000682215.1:n.4679C>T
ENST00000682288.1:c.*2528C>T	ENSP00000507506.1:n.*2528C>T
ENST00000682442.1:n.4532C>T
ENST00000682528.1:n.4389C>T
ENST00000682673.1:n.4256C>T
ENST00000682805.1:n.4679C>T
ENST00000682965.1:c.*519C>T	ENSP00000508229.1:n.*519C>T
ENST00000683093.1:n.4411C>T
ENST00000683136.1:c.3980C>T	ENSP00000507768.1:p.Ala1327Val
ENST00000683153.1:n.4354C>T
ENST00000683365.1:n.4414C>T
ENST00000683377.1:n.4312C>T
ENST00000683456.1:c.*1234C>T	ENSP00000508318.1:n.*1234C>T
ENST00000683522.1:n.4312C>T
ENST00000683562.1:c.*2266C>T	ENSP00000508265.1:n.*2266C>T
ENST00000683693.1:n.4759C>T
ENST00000683725.1:c.4097C>T	ENSP00000507496.1:p.Ala1366Val
ENST00000684010.1:n.4307C>T
ENST00000684157.1:n.4312C>T
ENST00000684253.1:n.4215C>T
ENST00000684288.1:c.*2269C>T	ENSP00000507143.1:n.*2269C>T
ENST00000684313.1:n.3744C>T
ENST00000684332.1:n.4385C>T
ENST00000684371.1:n.4418C>T
ENST00000684404.1:n.4355C>T
ENST00000684442.1:n.4536C>T
ENST00000684555.1:c.*2309C>T	ENSP00000507705.1:n.*2309C>T
ENST00000684571.1:c.3938C>T	ENSP00000506935.1:p.Ala1313Val
ENST00000684593.1:c.*3802C>T	ENSP00000507005.1:n.*3802C>T
ENST00000684711.1:c.*2493C>T	ENSP00000506841.1:n.*2493C>T
ENST00000302539.9:c.4100C>T	ENSP00000303960.4:p.Ala1367Val
ENST00000389817.8:c.4097C>T MANE Select	ENSP00000374467.4:p.Ala1366Val
ENST00000642271.1:c.4094C>T	ENSP00000493749.1:p.Ala1365Val
ENST00000642579.1:c.2151C>T
ENST00000642611.1:n.4197C>T
ENST00000642902.1:c.3879C>T
ENST00000643260.1:c.4097C>T	ENSP00000494450.1:p.Ala1366Val
ENST00000643562.1:c.*2219C>T	ENSP00000496124.1:n.*2219C>T
ENST00000643925.1:c.2737C>T
ENST00000644057.1:n.174C>T
ENST00000644484.1:c.*2498C>T	ENSP00000493558.1:n.*2498C>T
ENST00000644675.1:c.*2269C>T	ENSP00000494567.1:n.*2269C>T
ENST00000644757.1:c.*2528C>T	ENSP00000495085.1:n.*2528C>T
ENST00000644772.1:c.4163C>T	ENSP00000494321.1:p.Ala1388Val
ENST00000645004.1:n.1752C>T
ENST00000645076.1:c.3296C>T
ENST00000645417.1:c.1285C>T
ENST00000645744.1:c.*2877C>T	ENSP00000494564.1:n.*2877C>T
ENST00000645760.1:c.4518C>T
ENST00000645884.1:c.*1380C>T	ENSP00000495516.1:n.*1380C>T
ENST00000646003.1:c.*2199C>T	ENSP00000495259.1:n.*2199C>T
ENST00000646207.1:c.*2934C>T	ENSP00000495025.1:n.*2934C>T
ENST00000646276.1:c.*2516C>T	ENSP00000496070.1:n.*2516C>T
ENST00000646592.1:c.3403C>T
ENST00000646902.1:c.4064C>T	ENSP00000494101.1:p.Ala1355Val
ENST00000646993.1:c.*2639C>T	ENSP00000493720.1:n.*2639C>T
ENST00000647013.1:c.4103C>T	ENSP00000496741.1:n.4103C>T
ENST00000647015.1:c.3848C>T	ENSP00000495389.1:p.Ala1283Val
ENST00000647086.1:c.*3683C>T	ENSP00000493677.1:n.*3683C>T
ENST00000647158.1:c.*2384C>T	ENSP00000495744.1:n.*2384C>T
ENST00000302539.8:c.4100C>T	ENSP00000303960.4:p.Ala1367Val
ENST00000389817.7:c.4097C>T	ENSP00000374467.3:p.Ala1366Val
ENST00000527905.5:c.*1119C>T	ENSP00000431653.1:n.*1119C>T
ENST00000528374.1:c.579C>T
ENST00000531137.1:n.662C>T
ENST00000531891.1:c.435C>T
ENST00000532220.1:n.571C>T
NM_000352.4:c.4097C>T	NP_000343.2:p.Ala1366Val
NM_001287174.1:c.4100C>T	NP_001274103.1:p.Ala1367Val
XM_011520331.1:c.4097C>T	XP_011518633.1:p.Ala1366Val
XM_011520332.1:c.4100C>T	XP_011518634.1:p.Ala1367Val
XM_011520333.1:c.2597C>T	XP_011518635.1:p.Ala866Val
XR_930890.1:n.4163C>T
NM_001351295.1:c.4163C>T	NP_001338224.1:p.Ala1388Val
NM_001351296.1:c.4097C>T	NP_001338225.1:p.Ala1366Val
NM_001351297.1:c.4094C>T	NP_001338226.1:p.Ala1365Val
NR_147094.1:n.4392C>T
XM_017018197.2:c.4166C>T	XP_016873686.1:p.Ala1389Val
XM_017018199.1:c.4163C>T	XP_016873688.1:p.Ala1388Val
XM_017018201.2:c.4166C>T	XP_016873690.1:p.Ala1389Val
XM_017018202.1:c.2663C>T	XP_016873691.1:p.Ala888Val
XM_017018204.1:c.2054C>T	XP_016873693.1:p.Ala685Val
XM_024448668.1:c.2465C>T	XP_024304436.1:p.Ala822Val
XR_001747945.2:n.4238C>T
XR_001747946.2:n.4169C>T
XR_002957189.1:n.4834C>T
NM_000352.6:c.4097C>T MANE Select	NP_000343.2:p.Ala1366Val
NM_001287174.2:c.4100C>T	NP_001274103.1:p.Ala1367Val
NM_001351295.2:c.4163C>T	NP_001338224.1:p.Ala1388Val
NM_001351296.2:c.4097C>T	NP_001338225.1:p.Ala1366Val
NM_001351297.2:c.4094C>T	NP_001338226.1:p.Ala1365Val
NR_147094.2:n.4392C>T
NM_001287174.3:c.4100C>T	NP_001274103.1:p.Ala1367Val