Canonical Allele Identifier: CA1955127571
Community Standard Title: NM_000352.6(ABCC8):c.3517G= (p.Val1173=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404552C= , CM000673.2:g.17404552C= GRCh38
NC_000011.9:g.17426099C= , CM000673.1:g.17426099C= GRCh37
NC_000011.8:g.17382675C= NCBI36
NG_008867.1:g.77351G=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3517G= MANE Select NP_000343.2:p.Val1173=
ENST00000389817.8:c.3517G= MANE Select ENSP00000374467.4:p.Val1173=
NM_000352.4:c.3517G= NP_000343.2:p.Val1173=
NM_001287174.1:c.3520G= NP_001274103.1:p.Val1174=
NM_001287174.2:c.3520G= NP_001274103.1:p.Val1174=
NM_001287174.3:c.3520G= NP_001274103.1:p.Val1174=
NM_001351295.1:c.3583G= NP_001338224.1:p.Val1195=
NM_001351295.2:c.3583G= NP_001338224.1:p.Val1195=
NM_001351296.1:c.3517G= NP_001338225.1:p.Val1173=
NM_001351296.2:c.3517G= NP_001338225.1:p.Val1173=
NM_001351297.1:c.3514G= NP_001338226.1:p.Val1172=
NM_001351297.2:c.3514G= NP_001338226.1:p.Val1172=
NR_147094.1:n.3666G=
NR_147094.2:n.3666G=
ENST00000302539.8:c.3520G= ENSP00000303960.4:p.Val1174=
ENST00000302539.9:c.3520G= ENSP00000303960.4:p.Val1174=
ENST00000389817.7:c.3517G= ENSP00000374467.3:p.Val1173=
ENST00000524561.1:n.649G=
ENST00000524561.2:n.3086G=
ENST00000527905.5:c.*393G= ENSP00000431653.1:n.*393G=
ENST00000528374.2:c.96G=
ENST00000529967.6:n.1856G=
ENST00000531137.1:n.10G=
ENST00000532220.2:n.1249G=
ENST00000642271.1:c.3514G= ENSP00000493749.1:p.Val1172=
ENST00000642579.1:c.1601G=
ENST00000642611.1:n.3471G=
ENST00000642611.2:n.3586G=
ENST00000642902.1:c.3299G=
ENST00000643260.1:c.3517G= ENSP00000494450.1:p.Val1173=
ENST00000643562.1:c.*1493G= ENSP00000496124.1:n.*1493G=
ENST00000643925.1:c.1641G=
ENST00000644447.1:c.1873G= ENSP00000496282.1:p.Val625=
ENST00000644484.1:c.*1772G= ENSP00000493558.1:n.*1772G=
ENST00000644675.1:c.*1689G= ENSP00000494567.1:n.*1689G=
ENST00000644757.1:c.*1802G= ENSP00000495085.1:n.*1802G=
ENST00000644772.1:c.3583G= ENSP00000494321.1:p.Val1195=
ENST00000645004.1:n.656G=
ENST00000645004.2:n.1016G=
ENST00000645076.1:c.2716G=
ENST00000645417.1:c.683G=
ENST00000645744.1:c.*1781G= ENSP00000494564.1:n.*1781G=
ENST00000645760.1:c.3792G=
ENST00000645884.1:c.*654G= ENSP00000495516.1:n.*654G=
ENST00000646003.1:c.*1473G= ENSP00000495259.1:n.*1473G=
ENST00000646207.1:c.*1984G= ENSP00000495025.1:n.*1984G=
ENST00000646276.1:c.*1790G= ENSP00000496070.1:n.*1790G=
ENST00000646592.1:c.2823G=
ENST00000646902.1:c.3514G= ENSP00000494101.1:p.Val1172=
ENST00000646993.1:c.*1913G= ENSP00000493720.1:n.*1913G=
ENST00000647013.1:c.3523G= ENSP00000496741.1:n.3523G=
ENST00000647015.1:c.3268G= ENSP00000495389.1:p.Val1090=
ENST00000647086.1:c.*3247G= ENSP00000493677.1:n.*3247G=
ENST00000647158.1:c.*1658G= ENSP00000495744.1:n.*1658G=
ENST00000682051.1:n.3533G=
ENST00000682110.1:n.3586G=
ENST00000682140.1:c.3514G= ENSP00000507829.1:p.Val1172=
ENST00000682185.1:n.4822G=
ENST00000682204.1:c.*1655G= ENSP00000507094.1:n.*1655G=
ENST00000682215.1:n.3583G=
ENST00000682288.1:c.*1948G= ENSP00000507506.1:n.*1948G=
ENST00000682442.1:n.3806G=
ENST00000682528.1:n.3663G=
ENST00000682673.1:n.3530G=
ENST00000682805.1:n.3583G=
ENST00000682965.1:c.3396+942G= ENSP00000508229.1:n.3396+942G=
ENST00000683093.1:n.3685G=
ENST00000683136.1:c.3514G= ENSP00000507768.1:p.Val1172=
ENST00000683153.1:n.3742G=
ENST00000683365.1:n.3688G=
ENST00000683377.1:n.3586G=
ENST00000683456.1:c.*654G= ENSP00000508318.1:n.*654G=
ENST00000683522.1:n.3586G=
ENST00000683562.1:c.*1686G= ENSP00000508265.1:n.*1686G=
ENST00000683693.1:n.3663G=
ENST00000683725.1:c.3517G= ENSP00000507496.1:p.Val1173=
ENST00000684010.1:n.3581G=
ENST00000684157.1:n.3586G=
ENST00000684253.1:n.3489G=
ENST00000684288.1:c.*1689G= ENSP00000507143.1:n.*1689G=
ENST00000684313.1:n.3018G=
ENST00000684332.1:n.3659G=
ENST00000684371.1:n.3692G=
ENST00000684404.1:n.3629G=
ENST00000684442.1:n.3586G=
ENST00000684555.1:c.*1729G= ENSP00000507705.1:n.*1729G=
ENST00000684571.1:c.3358G= ENSP00000506935.1:p.Val1120=
ENST00000684593.1:c.*3222G= ENSP00000507005.1:n.*3222G=
ENST00000684711.1:c.*1913G= ENSP00000506841.1:n.*1913G=
XM_011520331.1:c.3517G= XP_011518633.1:p.Val1173=
XM_011520332.1:c.3520G= XP_011518634.1:p.Val1174=
XM_011520333.1:c.2017G= XP_011518635.1:p.Val673=
XM_017018197.2:c.3586G= XP_016873686.1:p.Val1196=
XM_017018199.1:c.3583G= XP_016873688.1:p.Val1195=
XM_017018201.2:c.3586G= XP_016873690.1:p.Val1196=
XM_017018202.1:c.2083G= XP_016873691.1:p.Val695=
XM_017018204.1:c.1474G= XP_016873693.1:p.Val492=
XM_024448668.1:c.1885G= XP_024304436.1:p.Val629=
XR_001747945.2:n.3658G=
XR_001747946.2:n.3589G=
XR_002957189.1:n.3738G=
XR_930890.1:n.3583G=
XR_930892.1:n.3483G=
XR_930893.1:n.3480G=