Canonical Allele Identifier: CA379785330

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395213G>A , CM000673.2:g.17395213G>A	GRCh38
NC_000011.9:g.17416760G>A , CM000673.1:g.17416760G>A	GRCh37
NC_000011.8:g.17373336G>A	NCBI36
NG_008867.1:g.86690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3971C>T
ENST00000526037.6:n.305C>T
ENST00000528374.2:c.961C>T
ENST00000529967.6:n.2709C>T
ENST00000532220.2:n.3603C>T
ENST00000642611.2:n.5703C>T
ENST00000644057.2:n.946C>T
ENST00000645004.2:n.1869C>T
ENST00000682051.1:n.4532C>T
ENST00000682110.1:n.4585C>T
ENST00000682140.1:c.*156C>T	ENSP00000507829.1:n.*156C>T
ENST00000682185.1:n.5675C>T
ENST00000682204.1:c.*2508C>T	ENSP00000507094.1:n.*2508C>T
ENST00000682215.1:n.4952C>T
ENST00000682288.1:c.*2801C>T	ENSP00000507506.1:n.*2801C>T
ENST00000682442.1:n.4805C>T
ENST00000682528.1:n.4662C>T
ENST00000682673.1:n.4529C>T
ENST00000682805.1:n.4990C>T
ENST00000682965.1:c.*792C>T	ENSP00000508229.1:n.*792C>T
ENST00000683093.1:n.5606+397C>T
ENST00000683136.1:c.4253C>T	ENSP00000507768.1:p.Ala1418Val
ENST00000683153.1:n.4627C>T
ENST00000683365.1:n.4687C>T
ENST00000683377.1:n.4522+397C>T
ENST00000683456.1:c.*1507C>T	ENSP00000508318.1:n.*1507C>T
ENST00000683522.1:n.4585C>T
ENST00000683562.1:c.*2476+397C>T	ENSP00000508265.1:n.*2476+397C>T
ENST00000683693.1:n.6087+397C>T
ENST00000683725.1:c.4307+397C>T	ENSP00000507496.1:n.4307+397C>T
ENST00000684010.1:n.4580C>T
ENST00000684157.1:n.5570C>T
ENST00000684253.1:n.4488C>T
ENST00000684288.1:c.*2542C>T	ENSP00000507143.1:n.*2542C>T
ENST00000684313.1:n.4017C>T
ENST00000684332.1:n.4658C>T
ENST00000684371.1:n.4691C>T
ENST00000684404.1:n.5613C>T
ENST00000684442.1:n.4809C>T
ENST00000684555.1:c.*2582C>T	ENSP00000507705.1:n.*2582C>T
ENST00000684571.1:c.4211C>T	ENSP00000506935.1:p.Ala1404Val
ENST00000684593.1:c.*4075C>T	ENSP00000507005.1:n.*4075C>T
ENST00000684711.1:c.*2766C>T	ENSP00000506841.1:n.*2766C>T
ENST00000302539.9:c.4373C>T	ENSP00000303960.4:p.Ala1458Val
ENST00000389817.8:c.4370C>T MANE Select	ENSP00000374467.4:p.Ala1457Val
ENST00000642271.1:c.4367C>T	ENSP00000493749.1:p.Ala1456Val
ENST00000642579.1:c.2424C>T
ENST00000642611.1:n.5588C>T
ENST00000642902.1:c.4152C>T
ENST00000643260.1:c.4370C>T	ENSP00000494450.1:p.Ala1457Val
ENST00000643562.1:c.*2492C>T	ENSP00000496124.1:n.*2492C>T
ENST00000643925.1:c.3010C>T
ENST00000644057.1:n.447C>T
ENST00000644484.1:c.*3756C>T	ENSP00000493558.1:n.*3756C>T
ENST00000644675.1:c.*2542C>T	ENSP00000494567.1:n.*2542C>T
ENST00000644757.1:c.*3202+1051C>T	ENSP00000495085.1:n.*3202+1051C>T
ENST00000644772.1:c.4436C>T	ENSP00000494321.1:p.Ala1479Val
ENST00000645004.1:n.2063C>T
ENST00000645076.1:c.3506+397C>T
ENST00000645417.1:c.1558C>T
ENST00000645744.1:c.*4055C>T	ENSP00000494564.1:n.*4055C>T
ENST00000645760.1:c.4791C>T
ENST00000645884.1:c.*1653C>T	ENSP00000495516.1:n.*1653C>T
ENST00000646003.1:c.*2392C>T	ENSP00000495259.1:n.*2392C>T
ENST00000646207.1:c.*3207C>T	ENSP00000495025.1:n.*3207C>T
ENST00000646276.1:c.*3774C>T	ENSP00000496070.1:n.*3774C>T
ENST00000646592.1:c.3676C>T
ENST00000646902.1:c.4337C>T	ENSP00000494101.1:p.Ala1446Val
ENST00000646993.1:c.*2849+397C>T	ENSP00000493720.1:n.*2849+397C>T
ENST00000647013.1:c.4376C>T	ENSP00000496741.1:n.4376C>T
ENST00000647015.1:c.4121C>T	ENSP00000495389.1:p.Ala1374Val
ENST00000647086.1:c.*3956C>T	ENSP00000493677.1:n.*3956C>T
ENST00000647158.1:c.*2657C>T	ENSP00000495744.1:n.*2657C>T
ENST00000302539.8:c.4373C>T	ENSP00000303960.4:p.Ala1458Val
ENST00000389817.7:c.4370C>T	ENSP00000374467.3:p.Ala1457Val
ENST00000525022.1:n.306+397C>T
ENST00000526037.5:n.171+397C>T
ENST00000526168.5:c.158C>T
ENST00000531642.5:c.401C>T
NM_000352.4:c.4370C>T	NP_000343.2:p.Ala1457Val
NM_001287174.1:c.4373C>T	NP_001274103.1:p.Ala1458Val
XM_011520331.1:c.4370C>T	XP_011518633.1:p.Ala1457Val
XM_011520332.1:c.4310+397C>T	XP_011518634.1:n.4310+397C>T
XM_011520333.1:c.2870C>T	XP_011518635.1:p.Ala957Val
XR_930890.1:n.4373+397C>T
NM_001351295.1:c.4436C>T	NP_001338224.1:p.Ala1479Val
NM_001351296.1:c.4370C>T	NP_001338225.1:p.Ala1457Val
NM_001351297.1:c.4367C>T	NP_001338226.1:p.Ala1456Val
NR_147094.1:n.4665C>T
XM_017018197.2:c.4439C>T	XP_016873686.1:p.Ala1480Val
XM_017018199.1:c.4436C>T	XP_016873688.1:p.Ala1479Val
XM_017018201.2:c.4376+397C>T	XP_016873690.1:n.4376+397C>T
XM_017018202.1:c.2936C>T	XP_016873691.1:p.Ala979Val
XM_017018204.1:c.2327C>T	XP_016873693.1:p.Ala776Val
XM_024448668.1:c.2738C>T	XP_024304436.1:p.Ala913Val
XR_001747945.2:n.4448+397C>T
XR_001747946.2:n.4379+397C>T
XR_002957189.1:n.6162+397C>T
NM_000352.6:c.4370C>T MANE Select	NP_000343.2:p.Ala1457Val
NM_001287174.2:c.4373C>T	NP_001274103.1:p.Ala1458Val
NM_001351295.2:c.4436C>T	NP_001338224.1:p.Ala1479Val
NM_001351296.2:c.4370C>T	NP_001338225.1:p.Ala1457Val
NM_001351297.2:c.4367C>T	NP_001338226.1:p.Ala1456Val
NR_147094.2:n.4665C>T
NM_001287174.3:c.4373C>T	NP_001274103.1:p.Ala1458Val