Canonical Allele Identifier: CA379781139
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393069G>C , CM000673.2:g.17393069G>C GRCh38
NC_000011.9:g.17414616G>C , CM000673.1:g.17414616G>C GRCh37
NC_000011.8:g.17371192G>C NCBI36
NG_008867.1:g.88834C>G
NG_012446.1:g.591C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4269C>G
ENST00000526037.6:n.603C>G
ENST00000528374.2:c.1259C>G
ENST00000529967.6:n.3007C>G
ENST00000532220.2:n.3901C>G
ENST00000642611.2:n.6001C>G
ENST00000644057.2:n.1244C>G
ENST00000645004.2:n.2167C>G
ENST00000682051.1:n.4830C>G
ENST00000682110.1:n.4883C>G
ENST00000682140.1:c.*454C>G ENSP00000507829.1:n.*454C>G
ENST00000682185.1:n.5973C>G
ENST00000682204.1:c.*2806C>G ENSP00000507094.1:n.*2806C>G
ENST00000682215.1:n.5250C>G
ENST00000682288.1:c.*3099C>G ENSP00000507506.1:n.*3099C>G
ENST00000682442.1:n.5103C>G
ENST00000682528.1:n.4960C>G
ENST00000682673.1:n.4827C>G
ENST00000682805.1:n.5288C>G
ENST00000682965.1:c.*1090C>G ENSP00000508229.1:n.*1090C>G
ENST00000683093.1:n.5863C>G
ENST00000683136.1:c.4551C>G ENSP00000507768.1:p.Ile1517Met
ENST00000683153.1:n.4925C>G
ENST00000683365.1:n.4985C>G
ENST00000683377.1:n.4779C>G
ENST00000683456.1:c.*1805C>G ENSP00000508318.1:n.*1805C>G
ENST00000683522.1:n.4965C>G
ENST00000683562.1:c.*2733C>G ENSP00000508265.1:n.*2733C>G
ENST00000683693.1:n.6344C>G
ENST00000683725.1:c.*133C>G ENSP00000507496.1:n.*133C>G
ENST00000684010.1:n.4878C>G
ENST00000684014.1:n.855C>G
ENST00000684157.1:n.5868C>G
ENST00000684253.1:n.4786C>G
ENST00000684288.1:c.*2840C>G ENSP00000507143.1:n.*2840C>G
ENST00000684313.1:n.4315C>G
ENST00000684332.1:n.4956C>G
ENST00000684371.1:n.4989C>G
ENST00000684404.1:n.5911C>G
ENST00000684442.1:n.5107C>G
ENST00000684555.1:c.*2880C>G ENSP00000507705.1:n.*2880C>G
ENST00000684571.1:c.4509C>G ENSP00000506935.1:p.Ile1503Met
ENST00000684593.1:c.*4373C>G ENSP00000507005.1:n.*4373C>G
ENST00000684711.1:c.*3064C>G ENSP00000506841.1:n.*3064C>G
ENST00000302539.9:c.4671C>G ENSP00000303960.4:p.Ile1557Met
ENST00000389817.8:c.4668C>G MANE Select ENSP00000374467.4:p.Ile1556Met
ENST00000642271.1:c.4665C>G ENSP00000493749.1:p.Ile1555Met
ENST00000642579.1:c.2722C>G
ENST00000642611.1:n.5886C>G
ENST00000642902.1:c.4450C>G
ENST00000643260.1:c.4668C>G ENSP00000494450.1:p.Ile1556Met
ENST00000643562.1:c.*2790C>G ENSP00000496124.1:n.*2790C>G
ENST00000643925.1:c.3245C>G
ENST00000644057.1:n.827C>G
ENST00000644484.1:c.*4054C>G ENSP00000493558.1:n.*4054C>G
ENST00000644675.1:c.*2840C>G ENSP00000494567.1:n.*2840C>G
ENST00000644757.1:c.*3203-89C>G ENSP00000495085.1:n.*3203-89C>G
ENST00000644772.1:c.4734C>G ENSP00000494321.1:p.Ile1578Met
ENST00000645004.1:n.2361C>G
ENST00000645076.1:c.3763C>G
ENST00000645760.1:c.5089C>G
ENST00000645884.1:c.*1951C>G ENSP00000495516.1:n.*1951C>G
ENST00000646003.1:c.*2690C>G ENSP00000495259.1:n.*2690C>G
ENST00000646207.1:c.*3505C>G ENSP00000495025.1:n.*3505C>G
ENST00000646592.1:c.3974C>G
ENST00000646902.1:c.4635C>G ENSP00000494101.1:p.Ile1545Met
ENST00000646993.1:c.*3106C>G ENSP00000493720.1:n.*3106C>G
ENST00000647015.1:c.4419C>G ENSP00000495389.1:p.Ile1473Met
ENST00000647086.1:c.*4254C>G ENSP00000493677.1:n.*4254C>G
ENST00000302539.8:c.4671C>G ENSP00000303960.4:p.Ile1557Met
ENST00000389817.7:c.4668C>G ENSP00000374467.3:p.Ile1556Met
ENST00000525022.1:n.647C>G
ENST00000526037.5:n.428C>G
ENST00000526168.5:c.456C>G
ENST00000531642.5:c.699C>G
NM_000352.4:c.4668C>G NP_000343.2:p.Ile1556Met
NM_001287174.1:c.4671C>G NP_001274103.1:p.Ile1557Met
XM_011520331.1:c.4668C>G XP_011518633.1:p.Ile1556Met
XM_011520333.1:c.3168C>G XP_011518635.1:p.Ile1056Met
XR_930890.1:n.4630C>G
NM_001351295.1:c.4734C>G NP_001338224.1:p.Ile1578Met
NM_001351296.1:c.4668C>G NP_001338225.1:p.Ile1556Met
NM_001351297.1:c.4665C>G NP_001338226.1:p.Ile1555Met
NR_147094.1:n.4963C>G
XM_017018197.2:c.4737C>G XP_016873686.1:p.Ile1579Met
XM_017018199.1:c.4734C>G XP_016873688.1:p.Ile1578Met
XM_017018202.1:c.3234C>G XP_016873691.1:p.Ile1078Met
XM_017018204.1:c.2625C>G XP_016873693.1:p.Ile875Met
XM_024448668.1:c.3036C>G XP_024304436.1:p.Ile1012Met
XR_001747945.2:n.4705C>G
XR_001747946.2:n.4636C>G
XR_002957189.1:n.6419C>G
NM_000352.6:c.4668C>G MANE Select NP_000343.2:p.Ile1556Met
NM_001287174.2:c.4671C>G NP_001274103.1:p.Ile1557Met
NM_001351295.2:c.4734C>G NP_001338224.1:p.Ile1578Met
NM_001351296.2:c.4668C>G NP_001338225.1:p.Ile1556Met
NM_001351297.2:c.4665C>G NP_001338226.1:p.Ile1555Met
NR_147094.2:n.4963C>G
NM_001287174.3:c.4671C>G NP_001274103.1:p.Ile1557Met