Canonical Allele Identifier: CA379801127

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428178G>C (hg19) ; chr11:g.17406631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406631G>C , CM000673.2:g.17406631G>C	GRCh38
NC_000011.9:g.17428178G>C , CM000673.1:g.17428178G>C	GRCh37
NC_000011.8:g.17384754G>C	NCBI36
NG_008867.1:g.75272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2889C>G
ENST00000529967.6:n.1659C>G
ENST00000532220.2:n.1052C>G
ENST00000642611.2:n.3389C>G
ENST00000645004.2:n.819C>G
ENST00000682051.1:n.3336C>G
ENST00000682110.1:n.3389C>G
ENST00000682140.1:c.3317C>G	ENSP00000507829.1:p.Ala1106Gly
ENST00000682185.1:n.4625C>G
ENST00000682204.1:c.*1458C>G	ENSP00000507094.1:n.*1458C>G
ENST00000682215.1:n.3386C>G
ENST00000682288.1:c.*1751C>G	ENSP00000507506.1:n.*1751C>G
ENST00000682442.1:n.3609C>G
ENST00000682528.1:n.3466C>G
ENST00000682673.1:n.3333C>G
ENST00000682805.1:n.3386C>G
ENST00000682965.1:c.3317C>G	ENSP00000508229.1:p.Ala1106Gly
ENST00000683093.1:n.3488C>G
ENST00000683136.1:c.3317C>G	ENSP00000507768.1:p.Ala1106Gly
ENST00000683153.1:n.3545C>G
ENST00000683365.1:n.3491C>G
ENST00000683377.1:n.3389C>G
ENST00000683456.1:c.*457C>G	ENSP00000508318.1:n.*457C>G
ENST00000683522.1:n.3389C>G
ENST00000683562.1:c.*1489C>G	ENSP00000508265.1:n.*1489C>G
ENST00000683693.1:n.3466C>G
ENST00000683725.1:c.3320C>G	ENSP00000507496.1:p.Ala1107Gly
ENST00000684010.1:n.3384C>G
ENST00000684157.1:n.3389C>G
ENST00000684253.1:n.3292C>G
ENST00000684288.1:c.*1492C>G	ENSP00000507143.1:n.*1492C>G
ENST00000684313.1:n.2821C>G
ENST00000684332.1:n.3462C>G
ENST00000684371.1:n.3495C>G
ENST00000684404.1:n.3432C>G
ENST00000684442.1:n.3389C>G
ENST00000684555.1:c.*1532C>G	ENSP00000507705.1:n.*1532C>G
ENST00000684571.1:c.3161C>G	ENSP00000506935.1:p.Ala1054Gly
ENST00000684593.1:c.*3025C>G	ENSP00000507005.1:n.*3025C>G
ENST00000684711.1:c.*1716C>G	ENSP00000506841.1:n.*1716C>G
ENST00000302539.9:c.3323C>G	ENSP00000303960.4:p.Ala1108Gly
ENST00000389817.8:c.3320C>G MANE Select	ENSP00000374467.4:p.Ala1107Gly
ENST00000642271.1:c.3317C>G	ENSP00000493749.1:p.Ala1106Gly
ENST00000642579.1:c.1404C>G
ENST00000642611.1:n.3274C>G
ENST00000642902.1:c.3102C>G
ENST00000643260.1:c.3320C>G	ENSP00000494450.1:p.Ala1107Gly
ENST00000643562.1:c.*1296C>G	ENSP00000496124.1:n.*1296C>G
ENST00000643925.1:c.1444C>G
ENST00000644447.1:c.1676C>G	ENSP00000496282.1:p.Ala559Gly
ENST00000644484.1:c.*1575C>G	ENSP00000493558.1:n.*1575C>G
ENST00000644542.1:c.*3124C>G	ENSP00000495532.1:n.*3124C>G
ENST00000644675.1:c.*1492C>G	ENSP00000494567.1:n.*1492C>G
ENST00000644757.1:c.*1605C>G	ENSP00000495085.1:n.*1605C>G
ENST00000644772.1:c.3386C>G	ENSP00000494321.1:p.Ala1129Gly
ENST00000645004.1:n.459C>G
ENST00000645076.1:c.2519C>G
ENST00000645417.1:c.486C>G
ENST00000645744.1:c.*1584C>G	ENSP00000494564.1:n.*1584C>G
ENST00000645760.1:c.3595C>G
ENST00000645884.1:c.*457C>G	ENSP00000495516.1:n.*457C>G
ENST00000646003.1:c.*1276C>G	ENSP00000495259.1:n.*1276C>G
ENST00000646207.1:c.*1787C>G	ENSP00000495025.1:n.*1787C>G
ENST00000646276.1:c.*1593C>G	ENSP00000496070.1:n.*1593C>G
ENST00000646592.1:c.2626C>G
ENST00000646902.1:c.3317C>G	ENSP00000494101.1:p.Ala1106Gly
ENST00000646993.1:c.*1716C>G	ENSP00000493720.1:n.*1716C>G
ENST00000647013.1:c.3326C>G	ENSP00000496741.1:n.3326C>G
ENST00000647015.1:c.3071C>G	ENSP00000495389.1:p.Ala1024Gly
ENST00000647086.1:c.*3050C>G	ENSP00000493677.1:n.*3050C>G
ENST00000647158.1:c.*1461C>G	ENSP00000495744.1:n.*1461C>G
ENST00000302539.8:c.3323C>G	ENSP00000303960.4:p.Ala1108Gly
ENST00000389817.7:c.3320C>G	ENSP00000374467.3:p.Ala1107Gly
ENST00000524561.1:n.452C>G
ENST00000527905.5:c.*196C>G	ENSP00000431653.1:n.*196C>G
NM_000352.4:c.3320C>G	NP_000343.2:p.Ala1107Gly
NM_001287174.1:c.3323C>G	NP_001274103.1:p.Ala1108Gly
XM_011520331.1:c.3320C>G	XP_011518633.1:p.Ala1107Gly
XM_011520332.1:c.3323C>G	XP_011518634.1:p.Ala1108Gly
XM_011520333.1:c.1820C>G	XP_011518635.1:p.Ala607Gly
XR_930890.1:n.3386C>G
XR_930891.1:n.3386C>G
XR_930892.1:n.3286C>G
XR_930893.1:n.3283C>G
NM_001351295.1:c.3386C>G	NP_001338224.1:p.Ala1129Gly
NM_001351296.1:c.3320C>G	NP_001338225.1:p.Ala1107Gly
NM_001351297.1:c.3317C>G	NP_001338226.1:p.Ala1106Gly
NR_147094.1:n.3469C>G
XM_017018197.2:c.3389C>G	XP_016873686.1:p.Ala1130Gly
XM_017018199.1:c.3386C>G	XP_016873688.1:p.Ala1129Gly
XM_017018201.2:c.3389C>G	XP_016873690.1:p.Ala1130Gly
XM_017018202.1:c.1886C>G	XP_016873691.1:p.Ala629Gly
XM_017018204.1:c.1277C>G	XP_016873693.1:p.Ala426Gly
XM_024448668.1:c.1688C>G	XP_024304436.1:p.Ala563Gly
XR_001747945.2:n.3461C>G
XR_001747946.2:n.3392C>G
XR_002957189.1:n.3541C>G
NM_000352.6:c.3320C>G MANE Select	NP_000343.2:p.Ala1107Gly
NM_001287174.2:c.3323C>G	NP_001274103.1:p.Ala1108Gly
NM_001351295.2:c.3386C>G	NP_001338224.1:p.Ala1129Gly
NM_001351296.2:c.3320C>G	NP_001338225.1:p.Ala1107Gly
NM_001351297.2:c.3317C>G	NP_001338226.1:p.Ala1106Gly
NR_147094.2:n.3469C>G
NM_001287174.3:c.3323C>G	NP_001274103.1:p.Ala1108Gly