Canonical Allele Identifier: CA207783

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 35611
• ClinVar RCV Id: RCV000029257 ; RCV000193953 ; RCV001388602
• dbSNP Id: rs193922400
• gnomAD v4: 11-17404524-C-T
• MyVariant Identifiers: chr11:g.17426071C>T (hg19) ; chr11:g.17404524C>T (hg38)
• PubMed: PMID:16885549 ; PMID:17389331 ; PMID:17446535

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404524C>T , CM000673.2:g.17404524C>T	GRCh38
NC_000011.9:g.17426071C>T , CM000673.1:g.17426071C>T	GRCh37
NC_000011.8:g.17382647C>T	NCBI36
NG_008867.1:g.77379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3114G>A
ENST00000528374.2:c.124G>A
ENST00000529967.6:n.1884G>A
ENST00000532220.2:n.1277G>A
ENST00000642611.2:n.3614G>A
ENST00000645004.2:n.1044G>A
ENST00000682051.1:n.3561G>A
ENST00000682110.1:n.3614G>A
ENST00000682140.1:c.3542G>A	ENSP00000507829.1:p.Arg1181Gln
ENST00000682185.1:n.4850G>A
ENST00000682204.1:c.*1683G>A	ENSP00000507094.1:n.*1683G>A
ENST00000682215.1:n.3611G>A
ENST00000682288.1:c.*1976G>A	ENSP00000507506.1:n.*1976G>A
ENST00000682442.1:n.3834G>A
ENST00000682528.1:n.3691G>A
ENST00000682673.1:n.3558G>A
ENST00000682805.1:n.3611G>A
ENST00000682965.1:c.3396+970G>A	ENSP00000508229.1:n.3396+970G>A
ENST00000683093.1:n.3713G>A
ENST00000683136.1:c.3542G>A	ENSP00000507768.1:p.Arg1181Gln
ENST00000683153.1:n.3770G>A
ENST00000683365.1:n.3716G>A
ENST00000683377.1:n.3614G>A
ENST00000683456.1:c.*682G>A	ENSP00000508318.1:n.*682G>A
ENST00000683522.1:n.3614G>A
ENST00000683562.1:c.*1714G>A	ENSP00000508265.1:n.*1714G>A
ENST00000683693.1:n.3691G>A
ENST00000683725.1:c.3545G>A	ENSP00000507496.1:p.Arg1182Gln
ENST00000684010.1:n.3609G>A
ENST00000684157.1:n.3614G>A
ENST00000684253.1:n.3517G>A
ENST00000684288.1:c.*1717G>A	ENSP00000507143.1:n.*1717G>A
ENST00000684313.1:n.3046G>A
ENST00000684332.1:n.3687G>A
ENST00000684371.1:n.3720G>A
ENST00000684404.1:n.3657G>A
ENST00000684442.1:n.3614G>A
ENST00000684555.1:c.*1757G>A	ENSP00000507705.1:n.*1757G>A
ENST00000684571.1:c.3386G>A	ENSP00000506935.1:p.Arg1129Gln
ENST00000684593.1:c.*3250G>A	ENSP00000507005.1:n.*3250G>A
ENST00000684711.1:c.*1941G>A	ENSP00000506841.1:n.*1941G>A
ENST00000302539.9:c.3548G>A	ENSP00000303960.4:p.Arg1183Gln
ENST00000389817.8:c.3545G>A MANE Select	ENSP00000374467.4:p.Arg1182Gln
ENST00000642271.1:c.3542G>A	ENSP00000493749.1:p.Arg1181Gln
ENST00000642579.1:c.1629G>A
ENST00000642611.1:n.3499G>A
ENST00000642902.1:c.3327G>A
ENST00000643260.1:c.3545G>A	ENSP00000494450.1:p.Arg1182Gln
ENST00000643562.1:c.*1521G>A	ENSP00000496124.1:n.*1521G>A
ENST00000643925.1:c.1669G>A
ENST00000644447.1:c.1901G>A	ENSP00000496282.1:p.Arg634Gln
ENST00000644484.1:c.*1800G>A	ENSP00000493558.1:n.*1800G>A
ENST00000644675.1:c.*1717G>A	ENSP00000494567.1:n.*1717G>A
ENST00000644757.1:c.*1830G>A	ENSP00000495085.1:n.*1830G>A
ENST00000644772.1:c.3611G>A	ENSP00000494321.1:p.Arg1204Gln
ENST00000645004.1:n.684G>A
ENST00000645076.1:c.2744G>A
ENST00000645417.1:c.711G>A
ENST00000645744.1:c.*1809G>A	ENSP00000494564.1:n.*1809G>A
ENST00000645760.1:c.3820G>A
ENST00000645884.1:c.*682G>A	ENSP00000495516.1:n.*682G>A
ENST00000646003.1:c.*1501G>A	ENSP00000495259.1:n.*1501G>A
ENST00000646207.1:c.*2012G>A	ENSP00000495025.1:n.*2012G>A
ENST00000646276.1:c.*1818G>A	ENSP00000496070.1:n.*1818G>A
ENST00000646592.1:c.2851G>A
ENST00000646902.1:c.3542G>A	ENSP00000494101.1:p.Arg1181Gln
ENST00000646993.1:c.*1941G>A	ENSP00000493720.1:n.*1941G>A
ENST00000647013.1:c.3551G>A	ENSP00000496741.1:n.3551G>A
ENST00000647015.1:c.3296G>A	ENSP00000495389.1:p.Arg1099Gln
ENST00000647086.1:c.*3275G>A	ENSP00000493677.1:n.*3275G>A
ENST00000647158.1:c.*1686G>A	ENSP00000495744.1:n.*1686G>A
ENST00000302539.8:c.3548G>A	ENSP00000303960.4:p.Arg1183Gln
ENST00000389817.7:c.3545G>A	ENSP00000374467.3:p.Arg1182Gln
ENST00000524561.1:n.677G>A
ENST00000527905.5:c.*421G>A	ENSP00000431653.1:n.*421G>A
ENST00000528374.1:c.15G>A
ENST00000531137.1:n.38G>A
NM_000352.4:c.3545G>A	NP_000343.2:p.Arg1182Gln
NM_001287174.1:c.3548G>A	NP_001274103.1:p.Arg1183Gln
XM_011520331.1:c.3545G>A	XP_011518633.1:p.Arg1182Gln
XM_011520332.1:c.3548G>A	XP_011518634.1:p.Arg1183Gln
XM_011520333.1:c.2045G>A	XP_011518635.1:p.Arg682Gln
XR_930890.1:n.3611G>A
XR_930892.1:n.3511G>A
XR_930893.1:n.3508G>A
NM_001351295.1:c.3611G>A	NP_001338224.1:p.Arg1204Gln
NM_001351296.1:c.3545G>A	NP_001338225.1:p.Arg1182Gln
NM_001351297.1:c.3542G>A	NP_001338226.1:p.Arg1181Gln
NR_147094.1:n.3694G>A
XM_017018197.2:c.3614G>A	XP_016873686.1:p.Arg1205Gln
XM_017018199.1:c.3611G>A	XP_016873688.1:p.Arg1204Gln
XM_017018201.2:c.3614G>A	XP_016873690.1:p.Arg1205Gln
XM_017018202.1:c.2111G>A	XP_016873691.1:p.Arg704Gln
XM_017018204.1:c.1502G>A	XP_016873693.1:p.Arg501Gln
XM_024448668.1:c.1913G>A	XP_024304436.1:p.Arg638Gln
XR_001747945.2:n.3686G>A
XR_001747946.2:n.3617G>A
XR_002957189.1:n.3766G>A
NM_000352.6:c.3545G>A MANE Select	NP_000343.2:p.Arg1182Gln
NM_001287174.2:c.3548G>A	NP_001274103.1:p.Arg1183Gln
NM_001351295.2:c.3611G>A	NP_001338224.1:p.Arg1204Gln
NM_001351296.2:c.3545G>A	NP_001338225.1:p.Arg1182Gln
NM_001351297.2:c.3542G>A	NP_001338226.1:p.Arg1181Gln
NR_147094.2:n.3694G>A
NM_001287174.3:c.3548G>A	NP_001274103.1:p.Arg1183Gln