Canonical Allele Identifier: CA379790576
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396973G>C , CM000673.2:g.17396973G>C GRCh38
NC_000011.9:g.17418520G>C , CM000673.1:g.17418520G>C GRCh37
NC_000011.8:g.17375096G>C NCBI36
NG_008867.1:g.84930C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3663C>G
ENST00000528374.2:c.653C>G
ENST00000529967.6:n.2401C>G
ENST00000532220.2:n.2310C>G
ENST00000642611.2:n.4277C>G
ENST00000644057.2:n.505C>G
ENST00000645004.2:n.1561C>G
ENST00000682051.1:n.4224C>G
ENST00000682110.1:n.4277C>G
ENST00000682140.1:c.3985+220C>G ENSP00000507829.1:n.3985+220C>G
ENST00000682185.1:n.5367C>G
ENST00000682204.1:c.*2200C>G ENSP00000507094.1:n.*2200C>G
ENST00000682215.1:n.4644C>G
ENST00000682288.1:c.*2493C>G ENSP00000507506.1:n.*2493C>G
ENST00000682442.1:n.4497C>G
ENST00000682528.1:n.4354C>G
ENST00000682673.1:n.4221C>G
ENST00000682805.1:n.4644C>G
ENST00000682965.1:c.*484C>G ENSP00000508229.1:n.*484C>G
ENST00000683093.1:n.4376C>G
ENST00000683136.1:c.3945C>G ENSP00000507768.1:p.Asp1315Glu
ENST00000683153.1:n.4319C>G
ENST00000683365.1:n.4379C>G
ENST00000683377.1:n.4277C>G
ENST00000683456.1:c.*1199C>G ENSP00000508318.1:n.*1199C>G
ENST00000683522.1:n.4277C>G
ENST00000683562.1:c.*2231C>G ENSP00000508265.1:n.*2231C>G
ENST00000683693.1:n.4724C>G
ENST00000683725.1:c.4062C>G ENSP00000507496.1:p.Asp1354Glu
ENST00000684010.1:n.4272C>G
ENST00000684157.1:n.4277C>G
ENST00000684253.1:n.4180C>G
ENST00000684288.1:c.*2234C>G ENSP00000507143.1:n.*2234C>G
ENST00000684313.1:n.3709C>G
ENST00000684332.1:n.4350C>G
ENST00000684371.1:n.4383C>G
ENST00000684404.1:n.4320C>G
ENST00000684442.1:n.4501C>G
ENST00000684555.1:c.*2274C>G ENSP00000507705.1:n.*2274C>G
ENST00000684571.1:c.3903C>G ENSP00000506935.1:p.Asp1301Glu
ENST00000684593.1:c.*3767C>G ENSP00000507005.1:n.*3767C>G
ENST00000684711.1:c.*2458C>G ENSP00000506841.1:n.*2458C>G
ENST00000302539.9:c.4065C>G ENSP00000303960.4:p.Asp1355Glu
ENST00000389817.8:c.4062C>G MANE Select ENSP00000374467.4:p.Asp1354Glu
ENST00000642271.1:c.4059C>G ENSP00000493749.1:p.Asp1353Glu
ENST00000642579.1:c.2116C>G
ENST00000642611.1:n.4162C>G
ENST00000642902.1:c.3844C>G
ENST00000643260.1:c.4062C>G ENSP00000494450.1:p.Asp1354Glu
ENST00000643562.1:c.*2184C>G ENSP00000496124.1:n.*2184C>G
ENST00000643925.1:c.2702C>G
ENST00000644057.1:n.139C>G
ENST00000644484.1:c.*2463C>G ENSP00000493558.1:n.*2463C>G
ENST00000644675.1:c.*2234C>G ENSP00000494567.1:n.*2234C>G
ENST00000644757.1:c.*2493C>G ENSP00000495085.1:n.*2493C>G
ENST00000644772.1:c.4128C>G ENSP00000494321.1:p.Asp1376Glu
ENST00000645004.1:n.1717C>G
ENST00000645076.1:c.3261C>G
ENST00000645417.1:c.1250C>G
ENST00000645744.1:c.*2842C>G ENSP00000494564.1:n.*2842C>G
ENST00000645760.1:c.4483C>G
ENST00000645884.1:c.*1345C>G ENSP00000495516.1:n.*1345C>G
ENST00000646003.1:c.*2164C>G ENSP00000495259.1:n.*2164C>G
ENST00000646207.1:c.*2899C>G ENSP00000495025.1:n.*2899C>G
ENST00000646276.1:c.*2481C>G ENSP00000496070.1:n.*2481C>G
ENST00000646592.1:c.3368C>G
ENST00000646902.1:c.4029C>G ENSP00000494101.1:p.Asp1343Glu
ENST00000646993.1:c.*2604C>G ENSP00000493720.1:n.*2604C>G
ENST00000647013.1:c.4068C>G ENSP00000496741.1:n.4068C>G
ENST00000647015.1:c.3813C>G ENSP00000495389.1:p.Asp1271Glu
ENST00000647086.1:c.*3648C>G ENSP00000493677.1:n.*3648C>G
ENST00000647158.1:c.*2349C>G ENSP00000495744.1:n.*2349C>G
ENST00000302539.8:c.4065C>G ENSP00000303960.4:p.Asp1355Glu
ENST00000389817.7:c.4062C>G ENSP00000374467.3:p.Asp1354Glu
ENST00000527905.5:c.*1084C>G ENSP00000431653.1:n.*1084C>G
ENST00000528374.1:c.544C>G
ENST00000531137.1:n.627C>G
ENST00000531891.1:c.400C>G
ENST00000532220.1:n.536C>G
NM_000352.4:c.4062C>G NP_000343.2:p.Asp1354Glu
NM_001287174.1:c.4065C>G NP_001274103.1:p.Asp1355Glu
XM_011520331.1:c.4062C>G XP_011518633.1:p.Asp1354Glu
XM_011520332.1:c.4065C>G XP_011518634.1:p.Asp1355Glu
XM_011520333.1:c.2562C>G XP_011518635.1:p.Asp854Glu
XR_930890.1:n.4128C>G
NM_001351295.1:c.4128C>G NP_001338224.1:p.Asp1376Glu
NM_001351296.1:c.4062C>G NP_001338225.1:p.Asp1354Glu
NM_001351297.1:c.4059C>G NP_001338226.1:p.Asp1353Glu
NR_147094.1:n.4357C>G
XM_017018197.2:c.4131C>G XP_016873686.1:p.Asp1377Glu
XM_017018199.1:c.4128C>G XP_016873688.1:p.Asp1376Glu
XM_017018201.2:c.4131C>G XP_016873690.1:p.Asp1377Glu
XM_017018202.1:c.2628C>G XP_016873691.1:p.Asp876Glu
XM_017018204.1:c.2019C>G XP_016873693.1:p.Asp673Glu
XM_024448668.1:c.2430C>G XP_024304436.1:p.Asp810Glu
XR_001747945.2:n.4203C>G
XR_001747946.2:n.4134C>G
XR_002957189.1:n.4799C>G
NM_000352.6:c.4062C>G MANE Select NP_000343.2:p.Asp1354Glu
NM_001287174.2:c.4065C>G NP_001274103.1:p.Asp1355Glu
NM_001351295.2:c.4128C>G NP_001338224.1:p.Asp1376Glu
NM_001351296.2:c.4062C>G NP_001338225.1:p.Asp1354Glu
NM_001351297.2:c.4059C>G NP_001338226.1:p.Asp1353Glu
NR_147094.2:n.4357C>G
NM_001287174.3:c.4065C>G NP_001274103.1:p.Asp1355Glu