Canonical Allele Identifier: CA473300534

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429972G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408425G>T , CM000673.2:g.17408425G>T	GRCh38
NC_000011.9:g.17429972G>T , CM000673.1:g.17429972G>T	GRCh37
NC_000011.8:g.17386548G>T	NCBI36
NG_008867.1:g.73478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2456C>A
ENST00000529967.6:n.1046C>A
ENST00000532220.2:n.519C>A
ENST00000642611.2:n.2856C>A
ENST00000682051.1:n.2803C>A
ENST00000682110.1:n.2856C>A
ENST00000682140.1:c.2784C>A	ENSP00000507829.1:p.Thr928=
ENST00000682185.1:n.4092C>A
ENST00000682204.1:c.*925C>A	ENSP00000507094.1:n.*925C>A
ENST00000682215.1:n.2853C>A
ENST00000682288.1:c.*1218C>A	ENSP00000507506.1:n.*1218C>A
ENST00000682442.1:n.2977C>A
ENST00000682528.1:n.2853C>A
ENST00000682673.1:n.2800C>A
ENST00000682805.1:n.2853C>A
ENST00000682965.1:c.2784C>A	ENSP00000508229.1:p.Thr928=
ENST00000683093.1:n.2955C>A
ENST00000683136.1:c.2784C>A	ENSP00000507768.1:p.Thr928=
ENST00000683153.1:n.3012C>A
ENST00000683365.1:n.2958C>A
ENST00000683377.1:n.2856C>A
ENST00000683456.1:c.2787C>A	ENSP00000508318.1:p.Thr929=
ENST00000683522.1:n.2856C>A
ENST00000683562.1:c.*956C>A	ENSP00000508265.1:n.*956C>A
ENST00000683693.1:n.2853C>A
ENST00000683725.1:c.2787C>A	ENSP00000507496.1:p.Thr929=
ENST00000684010.1:n.2771C>A
ENST00000684157.1:n.2856C>A
ENST00000684253.1:n.2759C>A
ENST00000684288.1:c.*959C>A	ENSP00000507143.1:n.*959C>A
ENST00000684313.1:n.2288C>A
ENST00000684332.1:n.2929C>A
ENST00000684371.1:n.2962C>A
ENST00000684404.1:n.2853C>A
ENST00000684442.1:n.2856C>A
ENST00000684555.1:c.*999C>A	ENSP00000507705.1:n.*999C>A
ENST00000684571.1:c.2628C>A	ENSP00000506935.1:p.Thr876=
ENST00000684593.1:c.*2492C>A	ENSP00000507005.1:n.*2492C>A
ENST00000684711.1:c.*1183C>A	ENSP00000506841.1:n.*1183C>A
ENST00000302539.9:c.2790C>A	ENSP00000303960.4:p.Thr930=
ENST00000389817.8:c.2787C>A MANE Select	ENSP00000374467.4:p.Thr929=
ENST00000642271.1:c.2784C>A	ENSP00000493749.1:p.Thr928=
ENST00000642579.1:c.871C>A
ENST00000642611.1:n.2741C>A
ENST00000642902.1:c.2622C>A
ENST00000643260.1:c.2787C>A	ENSP00000494450.1:p.Thr929=
ENST00000643562.1:c.*763C>A	ENSP00000496124.1:n.*763C>A
ENST00000643925.1:c.831C>A
ENST00000644447.1:c.1143C>A	ENSP00000496282.1:p.Thr381=
ENST00000644484.1:c.*996C>A	ENSP00000493558.1:n.*996C>A
ENST00000644542.1:c.*2492C>A	ENSP00000495532.1:n.*2492C>A
ENST00000644675.1:c.*959C>A	ENSP00000494567.1:n.*959C>A
ENST00000644757.1:c.*1092C>A	ENSP00000495085.1:n.*1092C>A
ENST00000644772.1:c.2853C>A	ENSP00000494321.1:p.Thr951=
ENST00000645076.1:c.2039C>A
ENST00000645744.1:c.*1151C>A	ENSP00000494564.1:n.*1151C>A
ENST00000645760.1:c.3062C>A
ENST00000645884.1:c.2787C>A	ENSP00000495516.1:p.Thr929=
ENST00000646003.1:c.*843C>A	ENSP00000495259.1:n.*843C>A
ENST00000646207.1:c.*1151C>A	ENSP00000495025.1:n.*1151C>A
ENST00000646276.1:c.*1060C>A	ENSP00000496070.1:n.*1060C>A
ENST00000646592.1:c.2013C>A
ENST00000646902.1:c.2784C>A	ENSP00000494101.1:p.Thr928=
ENST00000646993.1:c.*1183C>A	ENSP00000493720.1:n.*1183C>A
ENST00000647013.1:c.2793C>A	ENSP00000496741.1:n.2793C>A
ENST00000647015.1:c.2538C>A	ENSP00000495389.1:p.Thr846=
ENST00000647086.1:c.*2517C>A	ENSP00000493677.1:n.*2517C>A
ENST00000647158.1:c.*928C>A	ENSP00000495744.1:n.*928C>A
ENST00000302539.8:c.2790C>A	ENSP00000303960.4:p.Thr930=
ENST00000389817.7:c.2787C>A	ENSP00000374467.3:p.Thr929=
ENST00000526921.5:n.471C>A
ENST00000527905.5:c.2757C>A	ENSP00000431653.1:p.Thr919=
ENST00000529967.5:n.456C>A
NM_000352.4:c.2787C>A	NP_000343.2:p.Thr929=
NM_001287174.1:c.2790C>A	NP_001274103.1:p.Thr930=
XM_011520331.1:c.2787C>A	XP_011518633.1:p.Thr929=
XM_011520332.1:c.2790C>A	XP_011518634.1:p.Thr930=
XM_011520333.1:c.1287C>A	XP_011518635.1:p.Thr429=
XM_011520334.1:c.2790C>A	XP_011518636.1:p.Thr930=
XR_930890.1:n.2853C>A
XR_930891.1:n.2853C>A
XR_930892.1:n.2853C>A
XR_930893.1:n.2850C>A
NM_001351295.1:c.2853C>A	NP_001338224.1:p.Thr951=
NM_001351296.1:c.2787C>A	NP_001338225.1:p.Thr929=
NM_001351297.1:c.2784C>A	NP_001338226.1:p.Thr928=
NR_147094.1:n.2856C>A
XM_017018197.2:c.2856C>A	XP_016873686.1:p.Thr952=
XM_017018199.1:c.2853C>A	XP_016873688.1:p.Thr951=
XM_017018201.2:c.2856C>A	XP_016873690.1:p.Thr952=
XM_017018202.1:c.1353C>A	XP_016873691.1:p.Thr451=
XM_017018204.1:c.744C>A	XP_016873693.1:p.Thr248=
XM_024448668.1:c.1155C>A	XP_024304436.1:p.Thr385=
XR_001747945.2:n.2928C>A
XR_001747946.2:n.2859C>A
XR_002957189.1:n.2928C>A
NM_000352.6:c.2787C>A MANE Select	NP_000343.2:p.Thr929=
NM_001287174.2:c.2790C>A	NP_001274103.1:p.Thr930=
NM_001351295.2:c.2853C>A	NP_001338224.1:p.Thr951=
NM_001351296.2:c.2787C>A	NP_001338225.1:p.Thr929=
NM_001351297.2:c.2784C>A	NP_001338226.1:p.Thr928=
NR_147094.2:n.2856C>A
NM_001287174.3:c.2790C>A	NP_001274103.1:p.Thr930=