Canonical Allele Identifier: CA379798337
Gene: ABCC8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404620A>C , CM000673.2:g.17404620A>C GRCh38
NC_000011.9:g.17426167A>C , CM000673.1:g.17426167A>C GRCh37
NC_000011.8:g.17382743A>C NCBI36
NG_008867.1:g.77283T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3018T>G
ENST00000528374.2:c.28T>G
ENST00000529967.6:n.1788T>G
ENST00000532220.2:n.1181T>G
ENST00000642611.2:n.3518T>G
ENST00000645004.2:n.948T>G
ENST00000682051.1:n.3465T>G
ENST00000682110.1:n.3518T>G
ENST00000682140.1:c.3446T>G ENSP00000507829.1:p.Val1149Gly
ENST00000682185.1:n.4754T>G
ENST00000682204.1:c.*1587T>G ENSP00000507094.1:n.*1587T>G
ENST00000682215.1:n.3515T>G
ENST00000682288.1:c.*1880T>G ENSP00000507506.1:n.*1880T>G
ENST00000682442.1:n.3738T>G
ENST00000682528.1:n.3595T>G
ENST00000682673.1:n.3462T>G
ENST00000682805.1:n.3515T>G
ENST00000682965.1:c.3396+874T>G ENSP00000508229.1:n.3396+874T>G
ENST00000683093.1:n.3617T>G
ENST00000683136.1:c.3446T>G ENSP00000507768.1:p.Val1149Gly
ENST00000683153.1:n.3674T>G
ENST00000683365.1:n.3620T>G
ENST00000683377.1:n.3518T>G
ENST00000683456.1:c.*586T>G ENSP00000508318.1:n.*586T>G
ENST00000683522.1:n.3518T>G
ENST00000683562.1:c.*1618T>G ENSP00000508265.1:n.*1618T>G
ENST00000683693.1:n.3595T>G
ENST00000683725.1:c.3449T>G ENSP00000507496.1:p.Val1150Gly
ENST00000684010.1:n.3513T>G
ENST00000684157.1:n.3518T>G
ENST00000684253.1:n.3421T>G
ENST00000684288.1:c.*1621T>G ENSP00000507143.1:n.*1621T>G
ENST00000684313.1:n.2950T>G
ENST00000684332.1:n.3591T>G
ENST00000684371.1:n.3624T>G
ENST00000684404.1:n.3561T>G
ENST00000684442.1:n.3518T>G
ENST00000684555.1:c.*1661T>G ENSP00000507705.1:n.*1661T>G
ENST00000684571.1:c.3290T>G ENSP00000506935.1:p.Val1097Gly
ENST00000684593.1:c.*3154T>G ENSP00000507005.1:n.*3154T>G
ENST00000684711.1:c.*1845T>G ENSP00000506841.1:n.*1845T>G
ENST00000302539.9:c.3452T>G ENSP00000303960.4:p.Val1151Gly
ENST00000389817.8:c.3449T>G MANE Select ENSP00000374467.4:p.Val1150Gly
ENST00000642271.1:c.3446T>G ENSP00000493749.1:p.Val1149Gly
ENST00000642579.1:c.1533T>G
ENST00000642611.1:n.3403T>G
ENST00000642902.1:c.3231T>G
ENST00000643260.1:c.3449T>G ENSP00000494450.1:p.Val1150Gly
ENST00000643562.1:c.*1425T>G ENSP00000496124.1:n.*1425T>G
ENST00000643925.1:c.1573T>G
ENST00000644447.1:c.1805T>G ENSP00000496282.1:p.Val602Gly
ENST00000644484.1:c.*1704T>G ENSP00000493558.1:n.*1704T>G
ENST00000644675.1:c.*1621T>G ENSP00000494567.1:n.*1621T>G
ENST00000644757.1:c.*1734T>G ENSP00000495085.1:n.*1734T>G
ENST00000644772.1:c.3515T>G ENSP00000494321.1:p.Val1172Gly
ENST00000645004.1:n.588T>G
ENST00000645076.1:c.2648T>G
ENST00000645417.1:c.615T>G
ENST00000645744.1:c.*1713T>G ENSP00000494564.1:n.*1713T>G
ENST00000645760.1:c.3724T>G
ENST00000645884.1:c.*586T>G ENSP00000495516.1:n.*586T>G
ENST00000646003.1:c.*1405T>G ENSP00000495259.1:n.*1405T>G
ENST00000646207.1:c.*1916T>G ENSP00000495025.1:n.*1916T>G
ENST00000646276.1:c.*1722T>G ENSP00000496070.1:n.*1722T>G
ENST00000646592.1:c.2755T>G
ENST00000646902.1:c.3446T>G ENSP00000494101.1:p.Val1149Gly
ENST00000646993.1:c.*1845T>G ENSP00000493720.1:n.*1845T>G
ENST00000647013.1:c.3455T>G ENSP00000496741.1:n.3455T>G
ENST00000647015.1:c.3200T>G ENSP00000495389.1:p.Val1067Gly
ENST00000647086.1:c.*3179T>G ENSP00000493677.1:n.*3179T>G
ENST00000647158.1:c.*1590T>G ENSP00000495744.1:n.*1590T>G
ENST00000302539.8:c.3452T>G ENSP00000303960.4:p.Val1151Gly
ENST00000389817.7:c.3449T>G ENSP00000374467.3:p.Val1150Gly
ENST00000524561.1:n.581T>G
ENST00000527905.5:c.*325T>G ENSP00000431653.1:n.*325T>G
NM_000352.4:c.3449T>G NP_000343.2:p.Val1150Gly
NM_001287174.1:c.3452T>G NP_001274103.1:p.Val1151Gly
XM_011520331.1:c.3449T>G XP_011518633.1:p.Val1150Gly
XM_011520332.1:c.3452T>G XP_011518634.1:p.Val1151Gly
XM_011520333.1:c.1949T>G XP_011518635.1:p.Val650Gly
XR_930890.1:n.3515T>G
XR_930892.1:n.3415T>G
XR_930893.1:n.3412T>G
NM_001351295.1:c.3515T>G NP_001338224.1:p.Val1172Gly
NM_001351296.1:c.3449T>G NP_001338225.1:p.Val1150Gly
NM_001351297.1:c.3446T>G NP_001338226.1:p.Val1149Gly
NR_147094.1:n.3598T>G
XM_017018197.2:c.3518T>G XP_016873686.1:p.Val1173Gly
XM_017018199.1:c.3515T>G XP_016873688.1:p.Val1172Gly
XM_017018201.2:c.3518T>G XP_016873690.1:p.Val1173Gly
XM_017018202.1:c.2015T>G XP_016873691.1:p.Val672Gly
XM_017018204.1:c.1406T>G XP_016873693.1:p.Val469Gly
XM_024448668.1:c.1817T>G XP_024304436.1:p.Val606Gly
XR_001747945.2:n.3590T>G
XR_001747946.2:n.3521T>G
XR_002957189.1:n.3670T>G
NM_000352.6:c.3449T>G MANE Select NP_000343.2:p.Val1150Gly
NM_001287174.2:c.3452T>G NP_001274103.1:p.Val1151Gly
NM_001351295.2:c.3515T>G NP_001338224.1:p.Val1172Gly
NM_001351296.2:c.3449T>G NP_001338225.1:p.Val1150Gly
NM_001351297.2:c.3446T>G NP_001338226.1:p.Val1149Gly
NR_147094.2:n.3598T>G
NM_001287174.3:c.3452T>G NP_001274103.1:p.Val1151Gly