Canonical Allele Identifier: CA379798180

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426146G>C (hg19) ; chr11:g.17404599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404599G>C , CM000673.2:g.17404599G>C	GRCh38
NC_000011.9:g.17426146G>C , CM000673.1:g.17426146G>C	GRCh37
NC_000011.8:g.17382722G>C	NCBI36
NG_008867.1:g.77304C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3039C>G
ENST00000528374.2:c.49C>G
ENST00000529967.6:n.1809C>G
ENST00000532220.2:n.1202C>G
ENST00000642611.2:n.3539C>G
ENST00000645004.2:n.969C>G
ENST00000682051.1:n.3486C>G
ENST00000682110.1:n.3539C>G
ENST00000682140.1:c.3467C>G	ENSP00000507829.1:p.Ser1156Cys
ENST00000682185.1:n.4775C>G
ENST00000682204.1:c.*1608C>G	ENSP00000507094.1:n.*1608C>G
ENST00000682215.1:n.3536C>G
ENST00000682288.1:c.*1901C>G	ENSP00000507506.1:n.*1901C>G
ENST00000682442.1:n.3759C>G
ENST00000682528.1:n.3616C>G
ENST00000682673.1:n.3483C>G
ENST00000682805.1:n.3536C>G
ENST00000682965.1:c.3396+895C>G	ENSP00000508229.1:n.3396+895C>G
ENST00000683093.1:n.3638C>G
ENST00000683136.1:c.3467C>G	ENSP00000507768.1:p.Ser1156Cys
ENST00000683153.1:n.3695C>G
ENST00000683365.1:n.3641C>G
ENST00000683377.1:n.3539C>G
ENST00000683456.1:c.*607C>G	ENSP00000508318.1:n.*607C>G
ENST00000683522.1:n.3539C>G
ENST00000683562.1:c.*1639C>G	ENSP00000508265.1:n.*1639C>G
ENST00000683693.1:n.3616C>G
ENST00000683725.1:c.3470C>G	ENSP00000507496.1:p.Ser1157Cys
ENST00000684010.1:n.3534C>G
ENST00000684157.1:n.3539C>G
ENST00000684253.1:n.3442C>G
ENST00000684288.1:c.*1642C>G	ENSP00000507143.1:n.*1642C>G
ENST00000684313.1:n.2971C>G
ENST00000684332.1:n.3612C>G
ENST00000684371.1:n.3645C>G
ENST00000684404.1:n.3582C>G
ENST00000684442.1:n.3539C>G
ENST00000684555.1:c.*1682C>G	ENSP00000507705.1:n.*1682C>G
ENST00000684571.1:c.3311C>G	ENSP00000506935.1:p.Ser1104Cys
ENST00000684593.1:c.*3175C>G	ENSP00000507005.1:n.*3175C>G
ENST00000684711.1:c.*1866C>G	ENSP00000506841.1:n.*1866C>G
ENST00000302539.9:c.3473C>G	ENSP00000303960.4:p.Ser1158Cys
ENST00000389817.8:c.3470C>G MANE Select	ENSP00000374467.4:p.Ser1157Cys
ENST00000642271.1:c.3467C>G	ENSP00000493749.1:p.Ser1156Cys
ENST00000642579.1:c.1554C>G
ENST00000642611.1:n.3424C>G
ENST00000642902.1:c.3252C>G
ENST00000643260.1:c.3470C>G	ENSP00000494450.1:p.Ser1157Cys
ENST00000643562.1:c.*1446C>G	ENSP00000496124.1:n.*1446C>G
ENST00000643925.1:c.1594C>G
ENST00000644447.1:c.1826C>G	ENSP00000496282.1:p.Ser609Cys
ENST00000644484.1:c.*1725C>G	ENSP00000493558.1:n.*1725C>G
ENST00000644675.1:c.*1642C>G	ENSP00000494567.1:n.*1642C>G
ENST00000644757.1:c.*1755C>G	ENSP00000495085.1:n.*1755C>G
ENST00000644772.1:c.3536C>G	ENSP00000494321.1:p.Ser1179Cys
ENST00000645004.1:n.609C>G
ENST00000645076.1:c.2669C>G
ENST00000645417.1:c.636C>G
ENST00000645744.1:c.*1734C>G	ENSP00000494564.1:n.*1734C>G
ENST00000645760.1:c.3745C>G
ENST00000645884.1:c.*607C>G	ENSP00000495516.1:n.*607C>G
ENST00000646003.1:c.*1426C>G	ENSP00000495259.1:n.*1426C>G
ENST00000646207.1:c.*1937C>G	ENSP00000495025.1:n.*1937C>G
ENST00000646276.1:c.*1743C>G	ENSP00000496070.1:n.*1743C>G
ENST00000646592.1:c.2776C>G
ENST00000646902.1:c.3467C>G	ENSP00000494101.1:p.Ser1156Cys
ENST00000646993.1:c.*1866C>G	ENSP00000493720.1:n.*1866C>G
ENST00000647013.1:c.3476C>G	ENSP00000496741.1:n.3476C>G
ENST00000647015.1:c.3221C>G	ENSP00000495389.1:p.Ser1074Cys
ENST00000647086.1:c.*3200C>G	ENSP00000493677.1:n.*3200C>G
ENST00000647158.1:c.*1611C>G	ENSP00000495744.1:n.*1611C>G
ENST00000302539.8:c.3473C>G	ENSP00000303960.4:p.Ser1158Cys
ENST00000389817.7:c.3470C>G	ENSP00000374467.3:p.Ser1157Cys
ENST00000524561.1:n.602C>G
ENST00000527905.5:c.*346C>G	ENSP00000431653.1:n.*346C>G
NM_000352.4:c.3470C>G	NP_000343.2:p.Ser1157Cys
NM_001287174.1:c.3473C>G	NP_001274103.1:p.Ser1158Cys
XM_011520331.1:c.3470C>G	XP_011518633.1:p.Ser1157Cys
XM_011520332.1:c.3473C>G	XP_011518634.1:p.Ser1158Cys
XM_011520333.1:c.1970C>G	XP_011518635.1:p.Ser657Cys
XR_930890.1:n.3536C>G
XR_930892.1:n.3436C>G
XR_930893.1:n.3433C>G
NM_001351295.1:c.3536C>G	NP_001338224.1:p.Ser1179Cys
NM_001351296.1:c.3470C>G	NP_001338225.1:p.Ser1157Cys
NM_001351297.1:c.3467C>G	NP_001338226.1:p.Ser1156Cys
NR_147094.1:n.3619C>G
XM_017018197.2:c.3539C>G	XP_016873686.1:p.Ser1180Cys
XM_017018199.1:c.3536C>G	XP_016873688.1:p.Ser1179Cys
XM_017018201.2:c.3539C>G	XP_016873690.1:p.Ser1180Cys
XM_017018202.1:c.2036C>G	XP_016873691.1:p.Ser679Cys
XM_017018204.1:c.1427C>G	XP_016873693.1:p.Ser476Cys
XM_024448668.1:c.1838C>G	XP_024304436.1:p.Ser613Cys
XR_001747945.2:n.3611C>G
XR_001747946.2:n.3542C>G
XR_002957189.1:n.3691C>G
NM_000352.6:c.3470C>G MANE Select	NP_000343.2:p.Ser1157Cys
NM_001287174.2:c.3473C>G	NP_001274103.1:p.Ser1158Cys
NM_001351295.2:c.3536C>G	NP_001338224.1:p.Ser1179Cys
NM_001351296.2:c.3470C>G	NP_001338225.1:p.Ser1157Cys
NM_001351297.2:c.3467C>G	NP_001338226.1:p.Ser1156Cys
NR_147094.2:n.3619C>G
NM_001287174.3:c.3473C>G	NP_001274103.1:p.Ser1158Cys