Canonical Allele Identifier: CA379790880
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397003G>C , CM000673.2:g.17397003G>C GRCh38
NC_000011.9:g.17418550G>C , CM000673.1:g.17418550G>C GRCh37
NC_000011.8:g.17375126G>C NCBI36
NG_008867.1:g.84900C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3633C>G
ENST00000528374.2:c.623C>G
ENST00000529967.6:n.2371C>G
ENST00000532220.2:n.2280C>G
ENST00000642611.2:n.4247C>G
ENST00000644057.2:n.475C>G
ENST00000645004.2:n.1531C>G
ENST00000682051.1:n.4194C>G
ENST00000682110.1:n.4247C>G
ENST00000682140.1:c.3985+190C>G ENSP00000507829.1:n.3985+190C>G
ENST00000682185.1:n.5337C>G
ENST00000682204.1:c.*2170C>G ENSP00000507094.1:n.*2170C>G
ENST00000682215.1:n.4614C>G
ENST00000682288.1:c.*2463C>G ENSP00000507506.1:n.*2463C>G
ENST00000682442.1:n.4467C>G
ENST00000682528.1:n.4324C>G
ENST00000682673.1:n.4191C>G
ENST00000682805.1:n.4614C>G
ENST00000682965.1:c.*454C>G ENSP00000508229.1:n.*454C>G
ENST00000683093.1:n.4346C>G
ENST00000683136.1:c.3915C>G ENSP00000507768.1:p.Ile1305Met
ENST00000683153.1:n.4289C>G
ENST00000683365.1:n.4349C>G
ENST00000683377.1:n.4247C>G
ENST00000683456.1:c.*1169C>G ENSP00000508318.1:n.*1169C>G
ENST00000683522.1:n.4247C>G
ENST00000683562.1:c.*2201C>G ENSP00000508265.1:n.*2201C>G
ENST00000683693.1:n.4694C>G
ENST00000683725.1:c.4032C>G ENSP00000507496.1:p.Ile1344Met
ENST00000684010.1:n.4242C>G
ENST00000684157.1:n.4247C>G
ENST00000684253.1:n.4150C>G
ENST00000684288.1:c.*2204C>G ENSP00000507143.1:n.*2204C>G
ENST00000684313.1:n.3679C>G
ENST00000684332.1:n.4320C>G
ENST00000684371.1:n.4353C>G
ENST00000684404.1:n.4290C>G
ENST00000684442.1:n.4471C>G
ENST00000684555.1:c.*2244C>G ENSP00000507705.1:n.*2244C>G
ENST00000684571.1:c.3873C>G ENSP00000506935.1:p.Ile1291Met
ENST00000684593.1:c.*3737C>G ENSP00000507005.1:n.*3737C>G
ENST00000684711.1:c.*2428C>G ENSP00000506841.1:n.*2428C>G
ENST00000302539.9:c.4035C>G ENSP00000303960.4:p.Ile1345Met
ENST00000389817.8:c.4032C>G MANE Select ENSP00000374467.4:p.Ile1344Met
ENST00000642271.1:c.4029C>G ENSP00000493749.1:p.Ile1343Met
ENST00000642579.1:c.2086C>G
ENST00000642611.1:n.4132C>G
ENST00000642902.1:c.3814C>G
ENST00000643260.1:c.4032C>G ENSP00000494450.1:p.Ile1344Met
ENST00000643562.1:c.*2154C>G ENSP00000496124.1:n.*2154C>G
ENST00000643925.1:c.2672C>G
ENST00000644057.1:n.109C>G
ENST00000644484.1:c.*2433C>G ENSP00000493558.1:n.*2433C>G
ENST00000644675.1:c.*2204C>G ENSP00000494567.1:n.*2204C>G
ENST00000644757.1:c.*2463C>G ENSP00000495085.1:n.*2463C>G
ENST00000644772.1:c.4098C>G ENSP00000494321.1:p.Ile1366Met
ENST00000645004.1:n.1687C>G
ENST00000645076.1:c.3231C>G
ENST00000645417.1:c.1220C>G
ENST00000645744.1:c.*2812C>G ENSP00000494564.1:n.*2812C>G
ENST00000645760.1:c.4453C>G
ENST00000645884.1:c.*1315C>G ENSP00000495516.1:n.*1315C>G
ENST00000646003.1:c.*2134C>G ENSP00000495259.1:n.*2134C>G
ENST00000646207.1:c.*2869C>G ENSP00000495025.1:n.*2869C>G
ENST00000646276.1:c.*2451C>G ENSP00000496070.1:n.*2451C>G
ENST00000646592.1:c.3338C>G
ENST00000646902.1:c.3999C>G ENSP00000494101.1:p.Ile1333Met
ENST00000646993.1:c.*2574C>G ENSP00000493720.1:n.*2574C>G
ENST00000647013.1:c.4038C>G ENSP00000496741.1:n.4038C>G
ENST00000647015.1:c.3783C>G ENSP00000495389.1:p.Ile1261Met
ENST00000647086.1:c.*3618C>G ENSP00000493677.1:n.*3618C>G
ENST00000647158.1:c.*2319C>G ENSP00000495744.1:n.*2319C>G
ENST00000302539.8:c.4035C>G ENSP00000303960.4:p.Ile1345Met
ENST00000389817.7:c.4032C>G ENSP00000374467.3:p.Ile1344Met
ENST00000527905.5:c.*1054C>G ENSP00000431653.1:n.*1054C>G
ENST00000528374.1:c.514C>G
ENST00000531137.1:n.597C>G
ENST00000531891.1:c.370C>G
ENST00000532220.1:n.506C>G
NM_000352.4:c.4032C>G NP_000343.2:p.Ile1344Met
NM_001287174.1:c.4035C>G NP_001274103.1:p.Ile1345Met
XM_011520331.1:c.4032C>G XP_011518633.1:p.Ile1344Met
XM_011520332.1:c.4035C>G XP_011518634.1:p.Ile1345Met
XM_011520333.1:c.2532C>G XP_011518635.1:p.Ile844Met
XR_930890.1:n.4098C>G
NM_001351295.1:c.4098C>G NP_001338224.1:p.Ile1366Met
NM_001351296.1:c.4032C>G NP_001338225.1:p.Ile1344Met
NM_001351297.1:c.4029C>G NP_001338226.1:p.Ile1343Met
NR_147094.1:n.4327C>G
XM_017018197.2:c.4101C>G XP_016873686.1:p.Ile1367Met
XM_017018199.1:c.4098C>G XP_016873688.1:p.Ile1366Met
XM_017018201.2:c.4101C>G XP_016873690.1:p.Ile1367Met
XM_017018202.1:c.2598C>G XP_016873691.1:p.Ile866Met
XM_017018204.1:c.1989C>G XP_016873693.1:p.Ile663Met
XM_024448668.1:c.2400C>G XP_024304436.1:p.Ile800Met
XR_001747945.2:n.4173C>G
XR_001747946.2:n.4104C>G
XR_002957189.1:n.4769C>G
NM_000352.6:c.4032C>G MANE Select NP_000343.2:p.Ile1344Met
NM_001287174.2:c.4035C>G NP_001274103.1:p.Ile1345Met
NM_001351295.2:c.4098C>G NP_001338224.1:p.Ile1366Met
NM_001351296.2:c.4032C>G NP_001338225.1:p.Ile1344Met
NM_001351297.2:c.4029C>G NP_001338226.1:p.Ile1343Met
NR_147094.2:n.4327C>G
NM_001287174.3:c.4035C>G NP_001274103.1:p.Ile1345Met