Canonical Allele Identifier: CA473298549

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418544G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396997G>A , CM000673.2:g.17396997G>A	GRCh38
NC_000011.9:g.17418544G>A , CM000673.1:g.17418544G>A	GRCh37
NC_000011.8:g.17375120G>A	NCBI36
NG_008867.1:g.84906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3639C>T
ENST00000528374.2:c.629C>T
ENST00000529967.6:n.2377C>T
ENST00000532220.2:n.2286C>T
ENST00000642611.2:n.4253C>T
ENST00000644057.2:n.481C>T
ENST00000645004.2:n.1537C>T
ENST00000682051.1:n.4200C>T
ENST00000682110.1:n.4253C>T
ENST00000682140.1:c.3985+196C>T	ENSP00000507829.1:n.3985+196C>T
ENST00000682185.1:n.5343C>T
ENST00000682204.1:c.*2176C>T	ENSP00000507094.1:n.*2176C>T
ENST00000682215.1:n.4620C>T
ENST00000682288.1:c.*2469C>T	ENSP00000507506.1:n.*2469C>T
ENST00000682442.1:n.4473C>T
ENST00000682528.1:n.4330C>T
ENST00000682673.1:n.4197C>T
ENST00000682805.1:n.4620C>T
ENST00000682965.1:c.*460C>T	ENSP00000508229.1:n.*460C>T
ENST00000683093.1:n.4352C>T
ENST00000683136.1:c.3921C>T	ENSP00000507768.1:p.Ile1307=
ENST00000683153.1:n.4295C>T
ENST00000683365.1:n.4355C>T
ENST00000683377.1:n.4253C>T
ENST00000683456.1:c.*1175C>T	ENSP00000508318.1:n.*1175C>T
ENST00000683522.1:n.4253C>T
ENST00000683562.1:c.*2207C>T	ENSP00000508265.1:n.*2207C>T
ENST00000683693.1:n.4700C>T
ENST00000683725.1:c.4038C>T	ENSP00000507496.1:p.Ile1346=
ENST00000684010.1:n.4248C>T
ENST00000684157.1:n.4253C>T
ENST00000684253.1:n.4156C>T
ENST00000684288.1:c.*2210C>T	ENSP00000507143.1:n.*2210C>T
ENST00000684313.1:n.3685C>T
ENST00000684332.1:n.4326C>T
ENST00000684371.1:n.4359C>T
ENST00000684404.1:n.4296C>T
ENST00000684442.1:n.4477C>T
ENST00000684555.1:c.*2250C>T	ENSP00000507705.1:n.*2250C>T
ENST00000684571.1:c.3879C>T	ENSP00000506935.1:p.Ile1293=
ENST00000684593.1:c.*3743C>T	ENSP00000507005.1:n.*3743C>T
ENST00000684711.1:c.*2434C>T	ENSP00000506841.1:n.*2434C>T
ENST00000302539.9:c.4041C>T	ENSP00000303960.4:p.Ile1347=
ENST00000389817.8:c.4038C>T MANE Select	ENSP00000374467.4:p.Ile1346=
ENST00000642271.1:c.4035C>T	ENSP00000493749.1:p.Ile1345=
ENST00000642579.1:c.2092C>T
ENST00000642611.1:n.4138C>T
ENST00000642902.1:c.3820C>T
ENST00000643260.1:c.4038C>T	ENSP00000494450.1:p.Ile1346=
ENST00000643562.1:c.*2160C>T	ENSP00000496124.1:n.*2160C>T
ENST00000643925.1:c.2678C>T
ENST00000644057.1:n.115C>T
ENST00000644484.1:c.*2439C>T	ENSP00000493558.1:n.*2439C>T
ENST00000644675.1:c.*2210C>T	ENSP00000494567.1:n.*2210C>T
ENST00000644757.1:c.*2469C>T	ENSP00000495085.1:n.*2469C>T
ENST00000644772.1:c.4104C>T	ENSP00000494321.1:p.Ile1368=
ENST00000645004.1:n.1693C>T
ENST00000645076.1:c.3237C>T
ENST00000645417.1:c.1226C>T
ENST00000645744.1:c.*2818C>T	ENSP00000494564.1:n.*2818C>T
ENST00000645760.1:c.4459C>T
ENST00000645884.1:c.*1321C>T	ENSP00000495516.1:n.*1321C>T
ENST00000646003.1:c.*2140C>T	ENSP00000495259.1:n.*2140C>T
ENST00000646207.1:c.*2875C>T	ENSP00000495025.1:n.*2875C>T
ENST00000646276.1:c.*2457C>T	ENSP00000496070.1:n.*2457C>T
ENST00000646592.1:c.3344C>T
ENST00000646902.1:c.4005C>T	ENSP00000494101.1:p.Ile1335=
ENST00000646993.1:c.*2580C>T	ENSP00000493720.1:n.*2580C>T
ENST00000647013.1:c.4044C>T	ENSP00000496741.1:n.4044C>T
ENST00000647015.1:c.3789C>T	ENSP00000495389.1:p.Ile1263=
ENST00000647086.1:c.*3624C>T	ENSP00000493677.1:n.*3624C>T
ENST00000647158.1:c.*2325C>T	ENSP00000495744.1:n.*2325C>T
ENST00000302539.8:c.4041C>T	ENSP00000303960.4:p.Ile1347=
ENST00000389817.7:c.4038C>T	ENSP00000374467.3:p.Ile1346=
ENST00000527905.5:c.*1060C>T	ENSP00000431653.1:n.*1060C>T
ENST00000528374.1:c.520C>T
ENST00000531137.1:n.603C>T
ENST00000531891.1:c.376C>T
ENST00000532220.1:n.512C>T
NM_000352.4:c.4038C>T	NP_000343.2:p.Ile1346=
NM_001287174.1:c.4041C>T	NP_001274103.1:p.Ile1347=
XM_011520331.1:c.4038C>T	XP_011518633.1:p.Ile1346=
XM_011520332.1:c.4041C>T	XP_011518634.1:p.Ile1347=
XM_011520333.1:c.2538C>T	XP_011518635.1:p.Ile846=
XR_930890.1:n.4104C>T
NM_001351295.1:c.4104C>T	NP_001338224.1:p.Ile1368=
NM_001351296.1:c.4038C>T	NP_001338225.1:p.Ile1346=
NM_001351297.1:c.4035C>T	NP_001338226.1:p.Ile1345=
NR_147094.1:n.4333C>T
XM_017018197.2:c.4107C>T	XP_016873686.1:p.Ile1369=
XM_017018199.1:c.4104C>T	XP_016873688.1:p.Ile1368=
XM_017018201.2:c.4107C>T	XP_016873690.1:p.Ile1369=
XM_017018202.1:c.2604C>T	XP_016873691.1:p.Ile868=
XM_017018204.1:c.1995C>T	XP_016873693.1:p.Ile665=
XM_024448668.1:c.2406C>T	XP_024304436.1:p.Ile802=
XR_001747945.2:n.4179C>T
XR_001747946.2:n.4110C>T
XR_002957189.1:n.4775C>T
NM_000352.6:c.4038C>T MANE Select	NP_000343.2:p.Ile1346=
NM_001287174.2:c.4041C>T	NP_001274103.1:p.Ile1347=
NM_001351295.2:c.4104C>T	NP_001338224.1:p.Ile1368=
NM_001351296.2:c.4038C>T	NP_001338225.1:p.Ile1346=
NM_001351297.2:c.4035C>T	NP_001338226.1:p.Ile1345=
NR_147094.2:n.4333C>T
NM_001287174.3:c.4041C>T	NP_001274103.1:p.Ile1347=