Canonical Allele Identifier: CA379790743
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396991G>C , CM000673.2:g.17396991G>C GRCh38
NC_000011.9:g.17418538G>C , CM000673.1:g.17418538G>C GRCh37
NC_000011.8:g.17375114G>C NCBI36
NG_008867.1:g.84912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3645C>G
ENST00000528374.2:c.635C>G
ENST00000529967.6:n.2383C>G
ENST00000532220.2:n.2292C>G
ENST00000642611.2:n.4259C>G
ENST00000644057.2:n.487C>G
ENST00000645004.2:n.1543C>G
ENST00000682051.1:n.4206C>G
ENST00000682110.1:n.4259C>G
ENST00000682140.1:c.3985+202C>G ENSP00000507829.1:n.3985+202C>G
ENST00000682185.1:n.5349C>G
ENST00000682204.1:c.*2182C>G ENSP00000507094.1:n.*2182C>G
ENST00000682215.1:n.4626C>G
ENST00000682288.1:c.*2475C>G ENSP00000507506.1:n.*2475C>G
ENST00000682442.1:n.4479C>G
ENST00000682528.1:n.4336C>G
ENST00000682673.1:n.4203C>G
ENST00000682805.1:n.4626C>G
ENST00000682965.1:c.*466C>G ENSP00000508229.1:n.*466C>G
ENST00000683093.1:n.4358C>G
ENST00000683136.1:c.3927C>G ENSP00000507768.1:p.Asn1309Lys
ENST00000683153.1:n.4301C>G
ENST00000683365.1:n.4361C>G
ENST00000683377.1:n.4259C>G
ENST00000683456.1:c.*1181C>G ENSP00000508318.1:n.*1181C>G
ENST00000683522.1:n.4259C>G
ENST00000683562.1:c.*2213C>G ENSP00000508265.1:n.*2213C>G
ENST00000683693.1:n.4706C>G
ENST00000683725.1:c.4044C>G ENSP00000507496.1:p.Asn1348Lys
ENST00000684010.1:n.4254C>G
ENST00000684157.1:n.4259C>G
ENST00000684253.1:n.4162C>G
ENST00000684288.1:c.*2216C>G ENSP00000507143.1:n.*2216C>G
ENST00000684313.1:n.3691C>G
ENST00000684332.1:n.4332C>G
ENST00000684371.1:n.4365C>G
ENST00000684404.1:n.4302C>G
ENST00000684442.1:n.4483C>G
ENST00000684555.1:c.*2256C>G ENSP00000507705.1:n.*2256C>G
ENST00000684571.1:c.3885C>G ENSP00000506935.1:p.Asn1295Lys
ENST00000684593.1:c.*3749C>G ENSP00000507005.1:n.*3749C>G
ENST00000684711.1:c.*2440C>G ENSP00000506841.1:n.*2440C>G
ENST00000302539.9:c.4047C>G ENSP00000303960.4:p.Asn1349Lys
ENST00000389817.8:c.4044C>G MANE Select ENSP00000374467.4:p.Asn1348Lys
ENST00000642271.1:c.4041C>G ENSP00000493749.1:p.Asn1347Lys
ENST00000642579.1:c.2098C>G
ENST00000642611.1:n.4144C>G
ENST00000642902.1:c.3826C>G
ENST00000643260.1:c.4044C>G ENSP00000494450.1:p.Asn1348Lys
ENST00000643562.1:c.*2166C>G ENSP00000496124.1:n.*2166C>G
ENST00000643925.1:c.2684C>G
ENST00000644057.1:n.121C>G
ENST00000644484.1:c.*2445C>G ENSP00000493558.1:n.*2445C>G
ENST00000644675.1:c.*2216C>G ENSP00000494567.1:n.*2216C>G
ENST00000644757.1:c.*2475C>G ENSP00000495085.1:n.*2475C>G
ENST00000644772.1:c.4110C>G ENSP00000494321.1:p.Asn1370Lys
ENST00000645004.1:n.1699C>G
ENST00000645076.1:c.3243C>G
ENST00000645417.1:c.1232C>G
ENST00000645744.1:c.*2824C>G ENSP00000494564.1:n.*2824C>G
ENST00000645760.1:c.4465C>G
ENST00000645884.1:c.*1327C>G ENSP00000495516.1:n.*1327C>G
ENST00000646003.1:c.*2146C>G ENSP00000495259.1:n.*2146C>G
ENST00000646207.1:c.*2881C>G ENSP00000495025.1:n.*2881C>G
ENST00000646276.1:c.*2463C>G ENSP00000496070.1:n.*2463C>G
ENST00000646592.1:c.3350C>G
ENST00000646902.1:c.4011C>G ENSP00000494101.1:p.Asn1337Lys
ENST00000646993.1:c.*2586C>G ENSP00000493720.1:n.*2586C>G
ENST00000647013.1:c.4050C>G ENSP00000496741.1:n.4050C>G
ENST00000647015.1:c.3795C>G ENSP00000495389.1:p.Asn1265Lys
ENST00000647086.1:c.*3630C>G ENSP00000493677.1:n.*3630C>G
ENST00000647158.1:c.*2331C>G ENSP00000495744.1:n.*2331C>G
ENST00000302539.8:c.4047C>G ENSP00000303960.4:p.Asn1349Lys
ENST00000389817.7:c.4044C>G ENSP00000374467.3:p.Asn1348Lys
ENST00000527905.5:c.*1066C>G ENSP00000431653.1:n.*1066C>G
ENST00000528374.1:c.526C>G
ENST00000531137.1:n.609C>G
ENST00000531891.1:c.382C>G
ENST00000532220.1:n.518C>G
NM_000352.4:c.4044C>G NP_000343.2:p.Asn1348Lys
NM_001287174.1:c.4047C>G NP_001274103.1:p.Asn1349Lys
XM_011520331.1:c.4044C>G XP_011518633.1:p.Asn1348Lys
XM_011520332.1:c.4047C>G XP_011518634.1:p.Asn1349Lys
XM_011520333.1:c.2544C>G XP_011518635.1:p.Asn848Lys
XR_930890.1:n.4110C>G
NM_001351295.1:c.4110C>G NP_001338224.1:p.Asn1370Lys
NM_001351296.1:c.4044C>G NP_001338225.1:p.Asn1348Lys
NM_001351297.1:c.4041C>G NP_001338226.1:p.Asn1347Lys
NR_147094.1:n.4339C>G
XM_017018197.2:c.4113C>G XP_016873686.1:p.Asn1371Lys
XM_017018199.1:c.4110C>G XP_016873688.1:p.Asn1370Lys
XM_017018201.2:c.4113C>G XP_016873690.1:p.Asn1371Lys
XM_017018202.1:c.2610C>G XP_016873691.1:p.Asn870Lys
XM_017018204.1:c.2001C>G XP_016873693.1:p.Asn667Lys
XM_024448668.1:c.2412C>G XP_024304436.1:p.Asn804Lys
XR_001747945.2:n.4185C>G
XR_001747946.2:n.4116C>G
XR_002957189.1:n.4781C>G
NM_000352.6:c.4044C>G MANE Select NP_000343.2:p.Asn1348Lys
NM_001287174.2:c.4047C>G NP_001274103.1:p.Asn1349Lys
NM_001351295.2:c.4110C>G NP_001338224.1:p.Asn1370Lys
NM_001351296.2:c.4044C>G NP_001338225.1:p.Asn1348Lys
NM_001351297.2:c.4041C>G NP_001338226.1:p.Asn1347Lys
NR_147094.2:n.4339C>G
NM_001287174.3:c.4047C>G NP_001274103.1:p.Asn1349Lys