Canonical Allele Identifier: CA473299648

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426108G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404561G>A , CM000673.2:g.17404561G>A	GRCh38
NC_000011.9:g.17426108G>A , CM000673.1:g.17426108G>A	GRCh37
NC_000011.8:g.17382684G>A	NCBI36
NG_008867.1:g.77342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3077C>T
ENST00000528374.2:c.87C>T
ENST00000529967.6:n.1847C>T
ENST00000532220.2:n.1240C>T
ENST00000642611.2:n.3577C>T
ENST00000645004.2:n.1007C>T
ENST00000682051.1:n.3524C>T
ENST00000682110.1:n.3577C>T
ENST00000682140.1:c.3505C>T	ENSP00000507829.1:p.Leu1169=
ENST00000682185.1:n.4813C>T
ENST00000682204.1:c.*1646C>T	ENSP00000507094.1:n.*1646C>T
ENST00000682215.1:n.3574C>T
ENST00000682288.1:c.*1939C>T	ENSP00000507506.1:n.*1939C>T
ENST00000682442.1:n.3797C>T
ENST00000682528.1:n.3654C>T
ENST00000682673.1:n.3521C>T
ENST00000682805.1:n.3574C>T
ENST00000682965.1:c.3396+933C>T	ENSP00000508229.1:n.3396+933C>T
ENST00000683093.1:n.3676C>T
ENST00000683136.1:c.3505C>T	ENSP00000507768.1:p.Leu1169=
ENST00000683153.1:n.3733C>T
ENST00000683365.1:n.3679C>T
ENST00000683377.1:n.3577C>T
ENST00000683456.1:c.*645C>T	ENSP00000508318.1:n.*645C>T
ENST00000683522.1:n.3577C>T
ENST00000683562.1:c.*1677C>T	ENSP00000508265.1:n.*1677C>T
ENST00000683693.1:n.3654C>T
ENST00000683725.1:c.3508C>T	ENSP00000507496.1:p.Leu1170=
ENST00000684010.1:n.3572C>T
ENST00000684157.1:n.3577C>T
ENST00000684253.1:n.3480C>T
ENST00000684288.1:c.*1680C>T	ENSP00000507143.1:n.*1680C>T
ENST00000684313.1:n.3009C>T
ENST00000684332.1:n.3650C>T
ENST00000684371.1:n.3683C>T
ENST00000684404.1:n.3620C>T
ENST00000684442.1:n.3577C>T
ENST00000684555.1:c.*1720C>T	ENSP00000507705.1:n.*1720C>T
ENST00000684571.1:c.3349C>T	ENSP00000506935.1:p.Leu1117=
ENST00000684593.1:c.*3213C>T	ENSP00000507005.1:n.*3213C>T
ENST00000684711.1:c.*1904C>T	ENSP00000506841.1:n.*1904C>T
ENST00000302539.9:c.3511C>T	ENSP00000303960.4:p.Leu1171=
ENST00000389817.8:c.3508C>T MANE Select	ENSP00000374467.4:p.Leu1170=
ENST00000642271.1:c.3505C>T	ENSP00000493749.1:p.Leu1169=
ENST00000642579.1:c.1592C>T
ENST00000642611.1:n.3462C>T
ENST00000642902.1:c.3290C>T
ENST00000643260.1:c.3508C>T	ENSP00000494450.1:p.Leu1170=
ENST00000643562.1:c.*1484C>T	ENSP00000496124.1:n.*1484C>T
ENST00000643925.1:c.1632C>T
ENST00000644447.1:c.1864C>T	ENSP00000496282.1:p.Leu622=
ENST00000644484.1:c.*1763C>T	ENSP00000493558.1:n.*1763C>T
ENST00000644675.1:c.*1680C>T	ENSP00000494567.1:n.*1680C>T
ENST00000644757.1:c.*1793C>T	ENSP00000495085.1:n.*1793C>T
ENST00000644772.1:c.3574C>T	ENSP00000494321.1:p.Leu1192=
ENST00000645004.1:n.647C>T
ENST00000645076.1:c.2707C>T
ENST00000645417.1:c.674C>T
ENST00000645744.1:c.*1772C>T	ENSP00000494564.1:n.*1772C>T
ENST00000645760.1:c.3783C>T
ENST00000645884.1:c.*645C>T	ENSP00000495516.1:n.*645C>T
ENST00000646003.1:c.*1464C>T	ENSP00000495259.1:n.*1464C>T
ENST00000646207.1:c.*1975C>T	ENSP00000495025.1:n.*1975C>T
ENST00000646276.1:c.*1781C>T	ENSP00000496070.1:n.*1781C>T
ENST00000646592.1:c.2814C>T
ENST00000646902.1:c.3505C>T	ENSP00000494101.1:p.Leu1169=
ENST00000646993.1:c.*1904C>T	ENSP00000493720.1:n.*1904C>T
ENST00000647013.1:c.3514C>T	ENSP00000496741.1:n.3514C>T
ENST00000647015.1:c.3259C>T	ENSP00000495389.1:p.Leu1087=
ENST00000647086.1:c.*3238C>T	ENSP00000493677.1:n.*3238C>T
ENST00000647158.1:c.*1649C>T	ENSP00000495744.1:n.*1649C>T
ENST00000302539.8:c.3511C>T	ENSP00000303960.4:p.Leu1171=
ENST00000389817.7:c.3508C>T	ENSP00000374467.3:p.Leu1170=
ENST00000524561.1:n.640C>T
ENST00000527905.5:c.*384C>T	ENSP00000431653.1:n.*384C>T
ENST00000531137.1:n.1C>T
NM_000352.4:c.3508C>T	NP_000343.2:p.Leu1170=
NM_001287174.1:c.3511C>T	NP_001274103.1:p.Leu1171=
XM_011520331.1:c.3508C>T	XP_011518633.1:p.Leu1170=
XM_011520332.1:c.3511C>T	XP_011518634.1:p.Leu1171=
XM_011520333.1:c.2008C>T	XP_011518635.1:p.Leu670=
XR_930890.1:n.3574C>T
XR_930892.1:n.3474C>T
XR_930893.1:n.3471C>T
NM_001351295.1:c.3574C>T	NP_001338224.1:p.Leu1192=
NM_001351296.1:c.3508C>T	NP_001338225.1:p.Leu1170=
NM_001351297.1:c.3505C>T	NP_001338226.1:p.Leu1169=
NR_147094.1:n.3657C>T
XM_017018197.2:c.3577C>T	XP_016873686.1:p.Leu1193=
XM_017018199.1:c.3574C>T	XP_016873688.1:p.Leu1192=
XM_017018201.2:c.3577C>T	XP_016873690.1:p.Leu1193=
XM_017018202.1:c.2074C>T	XP_016873691.1:p.Leu692=
XM_017018204.1:c.1465C>T	XP_016873693.1:p.Leu489=
XM_024448668.1:c.1876C>T	XP_024304436.1:p.Leu626=
XR_001747945.2:n.3649C>T
XR_001747946.2:n.3580C>T
XR_002957189.1:n.3729C>T
NM_000352.6:c.3508C>T MANE Select	NP_000343.2:p.Leu1170=
NM_001287174.2:c.3511C>T	NP_001274103.1:p.Leu1171=
NM_001351295.2:c.3574C>T	NP_001338224.1:p.Leu1192=
NM_001351296.2:c.3508C>T	NP_001338225.1:p.Leu1170=
NM_001351297.2:c.3505C>T	NP_001338226.1:p.Leu1169=
NR_147094.2:n.3657C>T
NM_001287174.3:c.3511C>T	NP_001274103.1:p.Leu1171=