Canonical Allele Identifier: CA473298438

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 989958
• ClinVar RCV Id: RCV001277866 ; RCV001411378
• dbSNP Id: rs1345535328
• gnomAD v3: 11-17396931-G-A
• gnomAD v4: 11-17396931-G-A
• MyVariant Identifiers: chr11:g.17418478G>A (hg19) ; chr11:g.17396931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396931G>A , CM000673.2:g.17396931G>A	GRCh38
NC_000011.9:g.17418478G>A , CM000673.1:g.17418478G>A	GRCh37
NC_000011.8:g.17375054G>A	NCBI36
NG_008867.1:g.84972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3705C>T
ENST00000528374.2:c.695C>T
ENST00000529967.6:n.2443C>T
ENST00000532220.2:n.2352C>T
ENST00000642611.2:n.4319C>T
ENST00000644057.2:n.547C>T
ENST00000645004.2:n.1603C>T
ENST00000682051.1:n.4266C>T
ENST00000682110.1:n.4319C>T
ENST00000682140.1:c.3985+262C>T	ENSP00000507829.1:n.3985+262C>T
ENST00000682185.1:n.5409C>T
ENST00000682204.1:c.*2242C>T	ENSP00000507094.1:n.*2242C>T
ENST00000682215.1:n.4686C>T
ENST00000682288.1:c.*2535C>T	ENSP00000507506.1:n.*2535C>T
ENST00000682442.1:n.4539C>T
ENST00000682528.1:n.4396C>T
ENST00000682673.1:n.4263C>T
ENST00000682805.1:n.4686C>T
ENST00000682965.1:c.*526C>T	ENSP00000508229.1:n.*526C>T
ENST00000683093.1:n.4418C>T
ENST00000683136.1:c.3987C>T	ENSP00000507768.1:p.Ile1329=
ENST00000683153.1:n.4361C>T
ENST00000683365.1:n.4421C>T
ENST00000683377.1:n.4319C>T
ENST00000683456.1:c.*1241C>T	ENSP00000508318.1:n.*1241C>T
ENST00000683522.1:n.4319C>T
ENST00000683562.1:c.*2273C>T	ENSP00000508265.1:n.*2273C>T
ENST00000683693.1:n.4766C>T
ENST00000683725.1:c.4104C>T	ENSP00000507496.1:p.Ile1368=
ENST00000684010.1:n.4314C>T
ENST00000684157.1:n.4319C>T
ENST00000684253.1:n.4222C>T
ENST00000684288.1:c.*2276C>T	ENSP00000507143.1:n.*2276C>T
ENST00000684313.1:n.3751C>T
ENST00000684332.1:n.4392C>T
ENST00000684371.1:n.4425C>T
ENST00000684404.1:n.4362C>T
ENST00000684442.1:n.4543C>T
ENST00000684555.1:c.*2316C>T	ENSP00000507705.1:n.*2316C>T
ENST00000684571.1:c.3945C>T	ENSP00000506935.1:p.Ile1315=
ENST00000684593.1:c.*3809C>T	ENSP00000507005.1:n.*3809C>T
ENST00000684711.1:c.*2500C>T	ENSP00000506841.1:n.*2500C>T
ENST00000302539.9:c.4107C>T	ENSP00000303960.4:p.Ile1369=
ENST00000389817.8:c.4104C>T MANE Select	ENSP00000374467.4:p.Ile1368=
ENST00000642271.1:c.4101C>T	ENSP00000493749.1:p.Ile1367=
ENST00000642579.1:c.2158C>T
ENST00000642611.1:n.4204C>T
ENST00000642902.1:c.3886C>T
ENST00000643260.1:c.4104C>T	ENSP00000494450.1:p.Ile1368=
ENST00000643562.1:c.*2226C>T	ENSP00000496124.1:n.*2226C>T
ENST00000643925.1:c.2744C>T
ENST00000644057.1:n.181C>T
ENST00000644484.1:c.*2505C>T	ENSP00000493558.1:n.*2505C>T
ENST00000644675.1:c.*2276C>T	ENSP00000494567.1:n.*2276C>T
ENST00000644757.1:c.*2535C>T	ENSP00000495085.1:n.*2535C>T
ENST00000644772.1:c.4170C>T	ENSP00000494321.1:p.Ile1390=
ENST00000645004.1:n.1759C>T
ENST00000645076.1:c.3303C>T
ENST00000645417.1:c.1292C>T
ENST00000645744.1:c.*2884C>T	ENSP00000494564.1:n.*2884C>T
ENST00000645760.1:c.4525C>T
ENST00000645884.1:c.*1387C>T	ENSP00000495516.1:n.*1387C>T
ENST00000646003.1:c.*2206C>T	ENSP00000495259.1:n.*2206C>T
ENST00000646207.1:c.*2941C>T	ENSP00000495025.1:n.*2941C>T
ENST00000646276.1:c.*2523C>T	ENSP00000496070.1:n.*2523C>T
ENST00000646592.1:c.3410C>T
ENST00000646902.1:c.4071C>T	ENSP00000494101.1:p.Ile1357=
ENST00000646993.1:c.*2646C>T	ENSP00000493720.1:n.*2646C>T
ENST00000647013.1:c.4110C>T	ENSP00000496741.1:n.4110C>T
ENST00000647015.1:c.3855C>T	ENSP00000495389.1:p.Ile1285=
ENST00000647086.1:c.*3690C>T	ENSP00000493677.1:n.*3690C>T
ENST00000647158.1:c.*2391C>T	ENSP00000495744.1:n.*2391C>T
ENST00000302539.8:c.4107C>T	ENSP00000303960.4:p.Ile1369=
ENST00000389817.7:c.4104C>T	ENSP00000374467.3:p.Ile1368=
ENST00000527905.5:c.*1126C>T	ENSP00000431653.1:n.*1126C>T
ENST00000528374.1:c.586C>T
ENST00000532220.1:n.578C>T
NM_000352.4:c.4104C>T	NP_000343.2:p.Ile1368=
NM_001287174.1:c.4107C>T	NP_001274103.1:p.Ile1369=
XM_011520331.1:c.4104C>T	XP_011518633.1:p.Ile1368=
XM_011520332.1:c.4107C>T	XP_011518634.1:p.Ile1369=
XM_011520333.1:c.2604C>T	XP_011518635.1:p.Ile868=
XR_930890.1:n.4170C>T
NM_001351295.1:c.4170C>T	NP_001338224.1:p.Ile1390=
NM_001351296.1:c.4104C>T	NP_001338225.1:p.Ile1368=
NM_001351297.1:c.4101C>T	NP_001338226.1:p.Ile1367=
NR_147094.1:n.4399C>T
XM_017018197.2:c.4173C>T	XP_016873686.1:p.Ile1391=
XM_017018199.1:c.4170C>T	XP_016873688.1:p.Ile1390=
XM_017018201.2:c.4173C>T	XP_016873690.1:p.Ile1391=
XM_017018202.1:c.2670C>T	XP_016873691.1:p.Ile890=
XM_017018204.1:c.2061C>T	XP_016873693.1:p.Ile687=
XM_024448668.1:c.2472C>T	XP_024304436.1:p.Ile824=
XR_001747945.2:n.4245C>T
XR_001747946.2:n.4176C>T
XR_002957189.1:n.4841C>T
NM_000352.6:c.4104C>T MANE Select	NP_000343.2:p.Ile1368=
NM_001287174.2:c.4107C>T	NP_001274103.1:p.Ile1369=
NM_001351295.2:c.4170C>T	NP_001338224.1:p.Ile1390=
NM_001351296.2:c.4104C>T	NP_001338225.1:p.Ile1368=
NM_001351297.2:c.4101C>T	NP_001338226.1:p.Ile1367=
NR_147094.2:n.4399C>T
NM_001287174.3:c.4107C>T	NP_001274103.1:p.Ile1369=