Canonical Allele Identifier: CA473298031

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415274G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393727G>T , CM000673.2:g.17393727G>T	GRCh38
NC_000011.9:g.17415274G>T , CM000673.1:g.17415274G>T	GRCh37
NC_000011.8:g.17371850G>T	NCBI36
NG_008867.1:g.88176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4179C>A
ENST00000526037.6:n.513C>A
ENST00000528374.2:c.1169C>A
ENST00000529967.6:n.2917C>A
ENST00000532220.2:n.3811C>A
ENST00000642611.2:n.5911C>A
ENST00000644057.2:n.1154C>A
ENST00000645004.2:n.2077C>A
ENST00000682051.1:n.4740C>A
ENST00000682110.1:n.4793C>A
ENST00000682140.1:c.*364C>A	ENSP00000507829.1:n.*364C>A
ENST00000682185.1:n.5883C>A
ENST00000682204.1:c.*2716C>A	ENSP00000507094.1:n.*2716C>A
ENST00000682215.1:n.5160C>A
ENST00000682288.1:c.*3009C>A	ENSP00000507506.1:n.*3009C>A
ENST00000682442.1:n.5013C>A
ENST00000682528.1:n.4870C>A
ENST00000682673.1:n.4737C>A
ENST00000682805.1:n.5198C>A
ENST00000682965.1:c.*1000C>A	ENSP00000508229.1:n.*1000C>A
ENST00000683093.1:n.5773C>A
ENST00000683136.1:c.4461C>A	ENSP00000507768.1:p.Ala1487=
ENST00000683153.1:n.4835C>A
ENST00000683365.1:n.4895C>A
ENST00000683377.1:n.4689C>A
ENST00000683456.1:c.*1715C>A	ENSP00000508318.1:n.*1715C>A
ENST00000683522.1:n.4875C>A
ENST00000683562.1:c.*2643C>A	ENSP00000508265.1:n.*2643C>A
ENST00000683693.1:n.6254C>A
ENST00000683725.1:c.*43C>A	ENSP00000507496.1:n.*43C>A
ENST00000684010.1:n.4788C>A
ENST00000684014.1:n.765C>A
ENST00000684157.1:n.5778C>A
ENST00000684253.1:n.4696C>A
ENST00000684288.1:c.*2750C>A	ENSP00000507143.1:n.*2750C>A
ENST00000684313.1:n.4225C>A
ENST00000684332.1:n.4866C>A
ENST00000684371.1:n.4899C>A
ENST00000684404.1:n.5821C>A
ENST00000684442.1:n.5017C>A
ENST00000684555.1:c.*2790C>A	ENSP00000507705.1:n.*2790C>A
ENST00000684571.1:c.4419C>A	ENSP00000506935.1:p.Ala1473=
ENST00000684593.1:c.*4283C>A	ENSP00000507005.1:n.*4283C>A
ENST00000684711.1:c.*2974C>A	ENSP00000506841.1:n.*2974C>A
ENST00000302539.9:c.4581C>A	ENSP00000303960.4:p.Ala1527=
ENST00000389817.8:c.4578C>A MANE Select	ENSP00000374467.4:p.Ala1526=
ENST00000642271.1:c.4575C>A	ENSP00000493749.1:p.Ala1525=
ENST00000642579.1:c.2632C>A
ENST00000642611.1:n.5796C>A
ENST00000642902.1:c.4360C>A
ENST00000643260.1:c.4578C>A	ENSP00000494450.1:p.Ala1526=
ENST00000643562.1:c.*2700C>A	ENSP00000496124.1:n.*2700C>A
ENST00000643925.1:c.3185+539C>A
ENST00000644057.1:n.737C>A
ENST00000644484.1:c.*3964C>A	ENSP00000493558.1:n.*3964C>A
ENST00000644675.1:c.*2750C>A	ENSP00000494567.1:n.*2750C>A
ENST00000644757.1:c.*3203-747C>A	ENSP00000495085.1:n.*3203-747C>A
ENST00000644772.1:c.4644C>A	ENSP00000494321.1:p.Ala1548=
ENST00000645004.1:n.2271C>A
ENST00000645076.1:c.3673C>A
ENST00000645417.1:c.1766C>A
ENST00000645744.1:c.*4263C>A	ENSP00000494564.1:n.*4263C>A
ENST00000645760.1:c.4999C>A
ENST00000645884.1:c.*1861C>A	ENSP00000495516.1:n.*1861C>A
ENST00000646003.1:c.*2600C>A	ENSP00000495259.1:n.*2600C>A
ENST00000646207.1:c.*3415C>A	ENSP00000495025.1:n.*3415C>A
ENST00000646276.1:c.*3982C>A	ENSP00000496070.1:n.*3982C>A
ENST00000646592.1:c.3884C>A
ENST00000646902.1:c.4545C>A	ENSP00000494101.1:p.Ala1515=
ENST00000646993.1:c.*3016C>A	ENSP00000493720.1:n.*3016C>A
ENST00000647015.1:c.4329C>A	ENSP00000495389.1:p.Ala1443=
ENST00000647086.1:c.*4164C>A	ENSP00000493677.1:n.*4164C>A
ENST00000647158.1:c.*2865C>A	ENSP00000495744.1:n.*2865C>A
ENST00000302539.8:c.4581C>A	ENSP00000303960.4:p.Ala1527=
ENST00000389817.7:c.4578C>A	ENSP00000374467.3:p.Ala1526=
ENST00000525022.1:n.473C>A
ENST00000526037.5:n.338C>A
ENST00000526168.5:c.366C>A
ENST00000531642.5:c.609C>A
NM_000352.4:c.4578C>A	NP_000343.2:p.Ala1526=
NM_001287174.1:c.4581C>A	NP_001274103.1:p.Ala1527=
XM_011520331.1:c.4578C>A	XP_011518633.1:p.Ala1526=
XM_011520333.1:c.3078C>A	XP_011518635.1:p.Ala1026=
XR_930890.1:n.4540C>A
NM_001351295.1:c.4644C>A	NP_001338224.1:p.Ala1548=
NM_001351296.1:c.4578C>A	NP_001338225.1:p.Ala1526=
NM_001351297.1:c.4575C>A	NP_001338226.1:p.Ala1525=
NR_147094.1:n.4873C>A
XM_017018197.2:c.4647C>A	XP_016873686.1:p.Ala1549=
XM_017018199.1:c.4644C>A	XP_016873688.1:p.Ala1548=
XM_017018202.1:c.3144C>A	XP_016873691.1:p.Ala1048=
XM_017018204.1:c.2535C>A	XP_016873693.1:p.Ala845=
XM_024448668.1:c.2946C>A	XP_024304436.1:p.Ala982=
XR_001747945.2:n.4615C>A
XR_001747946.2:n.4546C>A
XR_002957189.1:n.6329C>A
NM_000352.6:c.4578C>A MANE Select	NP_000343.2:p.Ala1526=
NM_001287174.2:c.4581C>A	NP_001274103.1:p.Ala1527=
NM_001351295.2:c.4644C>A	NP_001338224.1:p.Ala1548=
NM_001351296.2:c.4578C>A	NP_001338225.1:p.Ala1526=
NM_001351297.2:c.4575C>A	NP_001338226.1:p.Ala1525=
NR_147094.2:n.4873C>A
NM_001287174.3:c.4581C>A	NP_001274103.1:p.Ala1527=