Canonical Allele Identifier: CA379790331
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396940A>C , CM000673.2:g.17396940A>C GRCh38
NC_000011.9:g.17418487A>C , CM000673.1:g.17418487A>C GRCh37
NC_000011.8:g.17375063A>C NCBI36
NG_008867.1:g.84963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3696T>G
ENST00000528374.2:c.686T>G
ENST00000529967.6:n.2434T>G
ENST00000532220.2:n.2343T>G
ENST00000642611.2:n.4310T>G
ENST00000644057.2:n.538T>G
ENST00000645004.2:n.1594T>G
ENST00000682051.1:n.4257T>G
ENST00000682110.1:n.4310T>G
ENST00000682140.1:c.3985+253T>G ENSP00000507829.1:n.3985+253T>G
ENST00000682185.1:n.5400T>G
ENST00000682204.1:c.*2233T>G ENSP00000507094.1:n.*2233T>G
ENST00000682215.1:n.4677T>G
ENST00000682288.1:c.*2526T>G ENSP00000507506.1:n.*2526T>G
ENST00000682442.1:n.4530T>G
ENST00000682528.1:n.4387T>G
ENST00000682673.1:n.4254T>G
ENST00000682805.1:n.4677T>G
ENST00000682965.1:c.*517T>G ENSP00000508229.1:n.*517T>G
ENST00000683093.1:n.4409T>G
ENST00000683136.1:c.3978T>G ENSP00000507768.1:p.Asn1326Lys
ENST00000683153.1:n.4352T>G
ENST00000683365.1:n.4412T>G
ENST00000683377.1:n.4310T>G
ENST00000683456.1:c.*1232T>G ENSP00000508318.1:n.*1232T>G
ENST00000683522.1:n.4310T>G
ENST00000683562.1:c.*2264T>G ENSP00000508265.1:n.*2264T>G
ENST00000683693.1:n.4757T>G
ENST00000683725.1:c.4095T>G ENSP00000507496.1:p.Asn1365Lys
ENST00000684010.1:n.4305T>G
ENST00000684157.1:n.4310T>G
ENST00000684253.1:n.4213T>G
ENST00000684288.1:c.*2267T>G ENSP00000507143.1:n.*2267T>G
ENST00000684313.1:n.3742T>G
ENST00000684332.1:n.4383T>G
ENST00000684371.1:n.4416T>G
ENST00000684404.1:n.4353T>G
ENST00000684442.1:n.4534T>G
ENST00000684555.1:c.*2307T>G ENSP00000507705.1:n.*2307T>G
ENST00000684571.1:c.3936T>G ENSP00000506935.1:p.Asn1312Lys
ENST00000684593.1:c.*3800T>G ENSP00000507005.1:n.*3800T>G
ENST00000684711.1:c.*2491T>G ENSP00000506841.1:n.*2491T>G
ENST00000302539.9:c.4098T>G ENSP00000303960.4:p.Asn1366Lys
ENST00000389817.8:c.4095T>G MANE Select ENSP00000374467.4:p.Asn1365Lys
ENST00000642271.1:c.4092T>G ENSP00000493749.1:p.Asn1364Lys
ENST00000642579.1:c.2149T>G
ENST00000642611.1:n.4195T>G
ENST00000642902.1:c.3877T>G
ENST00000643260.1:c.4095T>G ENSP00000494450.1:p.Asn1365Lys
ENST00000643562.1:c.*2217T>G ENSP00000496124.1:n.*2217T>G
ENST00000643925.1:c.2735T>G
ENST00000644057.1:n.172T>G
ENST00000644484.1:c.*2496T>G ENSP00000493558.1:n.*2496T>G
ENST00000644675.1:c.*2267T>G ENSP00000494567.1:n.*2267T>G
ENST00000644757.1:c.*2526T>G ENSP00000495085.1:n.*2526T>G
ENST00000644772.1:c.4161T>G ENSP00000494321.1:p.Asn1387Lys
ENST00000645004.1:n.1750T>G
ENST00000645076.1:c.3294T>G
ENST00000645417.1:c.1283T>G
ENST00000645744.1:c.*2875T>G ENSP00000494564.1:n.*2875T>G
ENST00000645760.1:c.4516T>G
ENST00000645884.1:c.*1378T>G ENSP00000495516.1:n.*1378T>G
ENST00000646003.1:c.*2197T>G ENSP00000495259.1:n.*2197T>G
ENST00000646207.1:c.*2932T>G ENSP00000495025.1:n.*2932T>G
ENST00000646276.1:c.*2514T>G ENSP00000496070.1:n.*2514T>G
ENST00000646592.1:c.3401T>G
ENST00000646902.1:c.4062T>G ENSP00000494101.1:p.Asn1354Lys
ENST00000646993.1:c.*2637T>G ENSP00000493720.1:n.*2637T>G
ENST00000647013.1:c.4101T>G ENSP00000496741.1:n.4101T>G
ENST00000647015.1:c.3846T>G ENSP00000495389.1:p.Asn1282Lys
ENST00000647086.1:c.*3681T>G ENSP00000493677.1:n.*3681T>G
ENST00000647158.1:c.*2382T>G ENSP00000495744.1:n.*2382T>G
ENST00000302539.8:c.4098T>G ENSP00000303960.4:p.Asn1366Lys
ENST00000389817.7:c.4095T>G ENSP00000374467.3:p.Asn1365Lys
ENST00000527905.5:c.*1117T>G ENSP00000431653.1:n.*1117T>G
ENST00000528374.1:c.577T>G
ENST00000531137.1:n.660T>G
ENST00000531891.1:c.433T>G
ENST00000532220.1:n.569T>G
NM_000352.4:c.4095T>G NP_000343.2:p.Asn1365Lys
NM_001287174.1:c.4098T>G NP_001274103.1:p.Asn1366Lys
XM_011520331.1:c.4095T>G XP_011518633.1:p.Asn1365Lys
XM_011520332.1:c.4098T>G XP_011518634.1:p.Asn1366Lys
XM_011520333.1:c.2595T>G XP_011518635.1:p.Asn865Lys
XR_930890.1:n.4161T>G
NM_001351295.1:c.4161T>G NP_001338224.1:p.Asn1387Lys
NM_001351296.1:c.4095T>G NP_001338225.1:p.Asn1365Lys
NM_001351297.1:c.4092T>G NP_001338226.1:p.Asn1364Lys
NR_147094.1:n.4390T>G
XM_017018197.2:c.4164T>G XP_016873686.1:p.Asn1388Lys
XM_017018199.1:c.4161T>G XP_016873688.1:p.Asn1387Lys
XM_017018201.2:c.4164T>G XP_016873690.1:p.Asn1388Lys
XM_017018202.1:c.2661T>G XP_016873691.1:p.Asn887Lys
XM_017018204.1:c.2052T>G XP_016873693.1:p.Asn684Lys
XM_024448668.1:c.2463T>G XP_024304436.1:p.Asn821Lys
XR_001747945.2:n.4236T>G
XR_001747946.2:n.4167T>G
XR_002957189.1:n.4832T>G
NM_000352.6:c.4095T>G MANE Select NP_000343.2:p.Asn1365Lys
NM_001287174.2:c.4098T>G NP_001274103.1:p.Asn1366Lys
NM_001351295.2:c.4161T>G NP_001338224.1:p.Asn1387Lys
NM_001351296.2:c.4095T>G NP_001338225.1:p.Asn1365Lys
NM_001351297.2:c.4092T>G NP_001338226.1:p.Asn1364Lys
NR_147094.2:n.4390T>G
NM_001287174.3:c.4098T>G NP_001274103.1:p.Asn1366Lys