Canonical Allele Identifier: CA473515917

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428291C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406744C>T , CM000673.2:g.17406744C>T	GRCh38
NC_000011.9:g.17428291C>T , CM000673.1:g.17428291C>T	GRCh37
NC_000011.8:g.17384867C>T	NCBI36
NG_008867.1:g.75159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2776G>A
ENST00000529967.6:n.1546G>A
ENST00000532220.2:n.939G>A
ENST00000642611.2:n.3276G>A
ENST00000645004.2:n.706G>A
ENST00000682051.1:n.3223G>A
ENST00000682110.1:n.3276G>A
ENST00000682140.1:c.3204G>A	ENSP00000507829.1:p.Val1068=
ENST00000682185.1:n.4512G>A
ENST00000682204.1:c.*1345G>A	ENSP00000507094.1:n.*1345G>A
ENST00000682215.1:n.3273G>A
ENST00000682288.1:c.*1638G>A	ENSP00000507506.1:n.*1638G>A
ENST00000682442.1:n.3496G>A
ENST00000682528.1:n.3353G>A
ENST00000682673.1:n.3220G>A
ENST00000682805.1:n.3273G>A
ENST00000682965.1:c.3204G>A	ENSP00000508229.1:p.Val1068=
ENST00000683093.1:n.3375G>A
ENST00000683136.1:c.3204G>A	ENSP00000507768.1:p.Val1068=
ENST00000683153.1:n.3432G>A
ENST00000683365.1:n.3378G>A
ENST00000683377.1:n.3276G>A
ENST00000683456.1:c.*344G>A	ENSP00000508318.1:n.*344G>A
ENST00000683522.1:n.3276G>A
ENST00000683562.1:c.*1376G>A	ENSP00000508265.1:n.*1376G>A
ENST00000683693.1:n.3353G>A
ENST00000683725.1:c.3207G>A	ENSP00000507496.1:p.Val1069=
ENST00000684010.1:n.3271G>A
ENST00000684157.1:n.3276G>A
ENST00000684253.1:n.3179G>A
ENST00000684288.1:c.*1379G>A	ENSP00000507143.1:n.*1379G>A
ENST00000684313.1:n.2708G>A
ENST00000684332.1:n.3349G>A
ENST00000684371.1:n.3382G>A
ENST00000684404.1:n.3319G>A
ENST00000684442.1:n.3276G>A
ENST00000684555.1:c.*1419G>A	ENSP00000507705.1:n.*1419G>A
ENST00000684571.1:c.3048G>A	ENSP00000506935.1:p.Val1016=
ENST00000684593.1:c.*2912G>A	ENSP00000507005.1:n.*2912G>A
ENST00000684711.1:c.*1603G>A	ENSP00000506841.1:n.*1603G>A
ENST00000302539.9:c.3210G>A	ENSP00000303960.4:p.Val1070=
ENST00000389817.8:c.3207G>A MANE Select	ENSP00000374467.4:p.Val1069=
ENST00000642271.1:c.3204G>A	ENSP00000493749.1:p.Val1068=
ENST00000642579.1:c.1291G>A
ENST00000642611.1:n.3161G>A
ENST00000642902.1:c.2989G>A
ENST00000643260.1:c.3207G>A	ENSP00000494450.1:p.Val1069=
ENST00000643562.1:c.*1183G>A	ENSP00000496124.1:n.*1183G>A
ENST00000643925.1:c.1331G>A
ENST00000644447.1:c.1563G>A	ENSP00000496282.1:p.Val521=
ENST00000644484.1:c.*1462G>A	ENSP00000493558.1:n.*1462G>A
ENST00000644542.1:c.*3011G>A	ENSP00000495532.1:n.*3011G>A
ENST00000644675.1:c.*1379G>A	ENSP00000494567.1:n.*1379G>A
ENST00000644757.1:c.*1492G>A	ENSP00000495085.1:n.*1492G>A
ENST00000644772.1:c.3273G>A	ENSP00000494321.1:p.Val1091=
ENST00000645004.1:n.346G>A
ENST00000645076.1:c.2406G>A
ENST00000645417.1:c.373G>A
ENST00000645744.1:c.*1471G>A	ENSP00000494564.1:n.*1471G>A
ENST00000645760.1:c.3482G>A
ENST00000645884.1:c.*344G>A	ENSP00000495516.1:n.*344G>A
ENST00000646003.1:c.*1163G>A	ENSP00000495259.1:n.*1163G>A
ENST00000646207.1:c.*1674G>A	ENSP00000495025.1:n.*1674G>A
ENST00000646276.1:c.*1480G>A	ENSP00000496070.1:n.*1480G>A
ENST00000646592.1:c.2513G>A
ENST00000646902.1:c.3204G>A	ENSP00000494101.1:p.Val1068=
ENST00000646993.1:c.*1603G>A	ENSP00000493720.1:n.*1603G>A
ENST00000647013.1:c.3213G>A	ENSP00000496741.1:n.3213G>A
ENST00000647015.1:c.2958G>A	ENSP00000495389.1:p.Val986=
ENST00000647086.1:c.*2937G>A	ENSP00000493677.1:n.*2937G>A
ENST00000647158.1:c.*1348G>A	ENSP00000495744.1:n.*1348G>A
ENST00000302539.8:c.3210G>A	ENSP00000303960.4:p.Val1070=
ENST00000389817.7:c.3207G>A	ENSP00000374467.3:p.Val1069=
ENST00000524561.1:n.339G>A
ENST00000526921.5:n.891G>A
ENST00000527905.5:c.*83G>A	ENSP00000431653.1:n.*83G>A
NM_000352.4:c.3207G>A	NP_000343.2:p.Val1069=
NM_001287174.1:c.3210G>A	NP_001274103.1:p.Val1070=
XM_011520331.1:c.3207G>A	XP_011518633.1:p.Val1069=
XM_011520332.1:c.3210G>A	XP_011518634.1:p.Val1070=
XM_011520333.1:c.1707G>A	XP_011518635.1:p.Val569=
XR_930890.1:n.3273G>A
XR_930891.1:n.3273G>A
XR_930892.1:n.3173G>A
XR_930893.1:n.3170G>A
NM_001351295.1:c.3273G>A	NP_001338224.1:p.Val1091=
NM_001351296.1:c.3207G>A	NP_001338225.1:p.Val1069=
NM_001351297.1:c.3204G>A	NP_001338226.1:p.Val1068=
NR_147094.1:n.3356G>A
XM_017018197.2:c.3276G>A	XP_016873686.1:p.Val1092=
XM_017018199.1:c.3273G>A	XP_016873688.1:p.Val1091=
XM_017018201.2:c.3276G>A	XP_016873690.1:p.Val1092=
XM_017018202.1:c.1773G>A	XP_016873691.1:p.Val591=
XM_017018204.1:c.1164G>A	XP_016873693.1:p.Val388=
XM_024448668.1:c.1575G>A	XP_024304436.1:p.Val525=
XR_001747945.2:n.3348G>A
XR_001747946.2:n.3279G>A
XR_002957189.1:n.3428G>A
NM_000352.6:c.3207G>A MANE Select	NP_000343.2:p.Val1069=
NM_001287174.2:c.3210G>A	NP_001274103.1:p.Val1070=
NM_001351295.2:c.3273G>A	NP_001338224.1:p.Val1091=
NM_001351296.2:c.3207G>A	NP_001338225.1:p.Val1069=
NM_001351297.2:c.3204G>A	NP_001338226.1:p.Val1068=
NR_147094.2:n.3356G>A
NM_001287174.3:c.3210G>A	NP_001274103.1:p.Val1070=