Canonical Allele Identifier: CA473298108

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415912G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394365G>A , CM000673.2:g.17394365G>A	GRCh38
NC_000011.9:g.17415912G>A , CM000673.1:g.17415912G>A	GRCh37
NC_000011.8:g.17372488G>A	NCBI36
NG_008867.1:g.87538C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4047C>T
ENST00000526037.6:n.381C>T
ENST00000528374.2:c.1037C>T
ENST00000529967.6:n.2785C>T
ENST00000532220.2:n.3679C>T
ENST00000642611.2:n.5779C>T
ENST00000644057.2:n.1022C>T
ENST00000645004.2:n.1945C>T
ENST00000682051.1:n.4608C>T
ENST00000682110.1:n.4661C>T
ENST00000682140.1:c.*232C>T	ENSP00000507829.1:n.*232C>T
ENST00000682185.1:n.5751C>T
ENST00000682204.1:c.*2584C>T	ENSP00000507094.1:n.*2584C>T
ENST00000682215.1:n.5028C>T
ENST00000682288.1:c.*2877C>T	ENSP00000507506.1:n.*2877C>T
ENST00000682442.1:n.4881C>T
ENST00000682528.1:n.4738C>T
ENST00000682673.1:n.4605C>T
ENST00000682805.1:n.5066C>T
ENST00000682965.1:c.*868C>T	ENSP00000508229.1:n.*868C>T
ENST00000683093.1:n.5641C>T
ENST00000683136.1:c.4329C>T	ENSP00000507768.1:p.Ser1443=
ENST00000683153.1:n.4703C>T
ENST00000683365.1:n.4763C>T
ENST00000683377.1:n.4557C>T
ENST00000683456.1:c.*1583C>T	ENSP00000508318.1:n.*1583C>T
ENST00000683522.1:n.4743C>T
ENST00000683562.1:c.*2511C>T	ENSP00000508265.1:n.*2511C>T
ENST00000683693.1:n.6122C>T
ENST00000683725.1:c.4342C>T	ENSP00000507496.1:p.Pro1448Ser
ENST00000684010.1:n.4656C>T
ENST00000684014.1:n.633C>T
ENST00000684157.1:n.5646C>T
ENST00000684253.1:n.4564C>T
ENST00000684288.1:c.*2618C>T	ENSP00000507143.1:n.*2618C>T
ENST00000684313.1:n.4093C>T
ENST00000684332.1:n.4734C>T
ENST00000684371.1:n.4767C>T
ENST00000684404.1:n.5689C>T
ENST00000684442.1:n.4885C>T
ENST00000684555.1:c.*2658C>T	ENSP00000507705.1:n.*2658C>T
ENST00000684571.1:c.4287C>T	ENSP00000506935.1:p.Ser1429=
ENST00000684593.1:c.*4151C>T	ENSP00000507005.1:n.*4151C>T
ENST00000684711.1:c.*2842C>T	ENSP00000506841.1:n.*2842C>T
ENST00000302539.9:c.4449C>T	ENSP00000303960.4:p.Ser1483=
ENST00000389817.8:c.4446C>T MANE Select	ENSP00000374467.4:p.Ser1482=
ENST00000642271.1:c.4443C>T	ENSP00000493749.1:p.Ser1481=
ENST00000642579.1:c.2500C>T
ENST00000642611.1:n.5664C>T
ENST00000642902.1:c.4228C>T
ENST00000643260.1:c.4446C>T	ENSP00000494450.1:p.Ser1482=
ENST00000643562.1:c.*2568C>T	ENSP00000496124.1:n.*2568C>T
ENST00000643925.1:c.3086C>T
ENST00000644057.1:n.605C>T
ENST00000644484.1:c.*3832C>T	ENSP00000493558.1:n.*3832C>T
ENST00000644675.1:c.*2618C>T	ENSP00000494567.1:n.*2618C>T
ENST00000644757.1:c.*3203-1385C>T	ENSP00000495085.1:n.*3203-1385C>T
ENST00000644772.1:c.4512C>T	ENSP00000494321.1:p.Ser1504=
ENST00000645004.1:n.2139C>T
ENST00000645076.1:c.3541C>T
ENST00000645417.1:c.1634C>T
ENST00000645744.1:c.*4131C>T	ENSP00000494564.1:n.*4131C>T
ENST00000645760.1:c.4867C>T
ENST00000645884.1:c.*1729C>T	ENSP00000495516.1:n.*1729C>T
ENST00000646003.1:c.*2468C>T	ENSP00000495259.1:n.*2468C>T
ENST00000646207.1:c.*3283C>T	ENSP00000495025.1:n.*3283C>T
ENST00000646276.1:c.*3850C>T	ENSP00000496070.1:n.*3850C>T
ENST00000646592.1:c.3752C>T
ENST00000646902.1:c.4413C>T	ENSP00000494101.1:p.Ser1471=
ENST00000646993.1:c.*2884C>T	ENSP00000493720.1:n.*2884C>T
ENST00000647013.1:c.4452C>T	ENSP00000496741.1:n.4452C>T
ENST00000647015.1:c.4197C>T	ENSP00000495389.1:p.Ser1399=
ENST00000647086.1:c.*4032C>T	ENSP00000493677.1:n.*4032C>T
ENST00000647158.1:c.*2733C>T	ENSP00000495744.1:n.*2733C>T
ENST00000302539.8:c.4449C>T	ENSP00000303960.4:p.Ser1483=
ENST00000389817.7:c.4446C>T	ENSP00000374467.3:p.Ser1482=
ENST00000525022.1:n.341C>T
ENST00000526037.5:n.206C>T
ENST00000526168.5:c.234C>T
ENST00000531642.5:c.477C>T
NM_000352.4:c.4446C>T	NP_000343.2:p.Ser1482=
NM_001287174.1:c.4449C>T	NP_001274103.1:p.Ser1483=
XM_011520331.1:c.4446C>T	XP_011518633.1:p.Ser1482=
XM_011520332.1:c.4345C>T	XP_011518634.1:p.Pro1449Ser
XM_011520333.1:c.2946C>T	XP_011518635.1:p.Ser982=
XR_930890.1:n.4408C>T
NM_001351295.1:c.4512C>T	NP_001338224.1:p.Ser1504=
NM_001351296.1:c.4446C>T	NP_001338225.1:p.Ser1482=
NM_001351297.1:c.4443C>T	NP_001338226.1:p.Ser1481=
NR_147094.1:n.4741C>T
XM_017018197.2:c.4515C>T	XP_016873686.1:p.Ser1505=
XM_017018199.1:c.4512C>T	XP_016873688.1:p.Ser1504=
XM_017018201.2:c.4411C>T	XP_016873690.1:p.Pro1471Ser
XM_017018202.1:c.3012C>T	XP_016873691.1:p.Ser1004=
XM_017018204.1:c.2403C>T	XP_016873693.1:p.Ser801=
XM_024448668.1:c.2814C>T	XP_024304436.1:p.Ser938=
XR_001747945.2:n.4483C>T
XR_001747946.2:n.4414C>T
XR_002957189.1:n.6197C>T
NM_000352.6:c.4446C>T MANE Select	NP_000343.2:p.Ser1482=
NM_001287174.2:c.4449C>T	NP_001274103.1:p.Ser1483=
NM_001351295.2:c.4512C>T	NP_001338224.1:p.Ser1504=
NM_001351296.2:c.4446C>T	NP_001338225.1:p.Ser1482=
NM_001351297.2:c.4443C>T	NP_001338226.1:p.Ser1481=
NR_147094.2:n.4741C>T
NM_001287174.3:c.4449C>T	NP_001274103.1:p.Ser1483=