Canonical Allele Identifier: CA379788416

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 585346
• ClinVar RCV Id: RCV001249023 ; RCV000710386 ; RCV002307604 ; RCV004535759
• dbSNP Id: rs193922401
• gnomAD v2: 11-17417461-C-T
• gnomAD v3: 11-17395914-C-T
• gnomAD v4: 11-17395914-C-T
• MyVariant Identifiers: chr11:g.17417461C>T (hg19) ; chr11:g.17395914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395914C>T , CM000673.2:g.17395914C>T	GRCh38
NC_000011.9:g.17417461C>T , CM000673.1:g.17417461C>T	GRCh37
NC_000011.8:g.17374037C>T	NCBI36
NG_008867.1:g.85989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3737G>A
ENST00000528374.2:c.727G>A
ENST00000529967.6:n.2475G>A
ENST00000532220.2:n.3369G>A
ENST00000642611.2:n.5336G>A
ENST00000644057.2:n.579G>A
ENST00000645004.2:n.1635G>A
ENST00000682051.1:n.4298G>A
ENST00000682110.1:n.4351G>A
ENST00000682140.1:c.4002G>A	ENSP00000507829.1:p.Pro1334=
ENST00000682185.1:n.5441G>A
ENST00000682204.1:c.*2274G>A	ENSP00000507094.1:n.*2274G>A
ENST00000682215.1:n.4718G>A
ENST00000682288.1:c.*2567G>A	ENSP00000507506.1:n.*2567G>A
ENST00000682442.1:n.4571G>A
ENST00000682528.1:n.4428G>A
ENST00000682673.1:n.4295G>A
ENST00000682805.1:n.4756G>A
ENST00000682965.1:c.*558G>A	ENSP00000508229.1:n.*558G>A
ENST00000683093.1:n.5435G>A
ENST00000683136.1:c.4019G>A	ENSP00000507768.1:p.Arg1340His
ENST00000683153.1:n.4393G>A
ENST00000683365.1:n.4453G>A
ENST00000683377.1:n.4351G>A
ENST00000683456.1:c.*1273G>A	ENSP00000508318.1:n.*1273G>A
ENST00000683522.1:n.4351G>A
ENST00000683562.1:c.*2305G>A	ENSP00000508265.1:n.*2305G>A
ENST00000683693.1:n.5783G>A
ENST00000683725.1:c.4136G>A	ENSP00000507496.1:p.Arg1379His
ENST00000684010.1:n.4346G>A
ENST00000684157.1:n.5336G>A
ENST00000684253.1:n.4254G>A
ENST00000684288.1:c.*2308G>A	ENSP00000507143.1:n.*2308G>A
ENST00000684313.1:n.3783G>A
ENST00000684332.1:n.4424G>A
ENST00000684371.1:n.4457G>A
ENST00000684404.1:n.5379G>A
ENST00000684442.1:n.4575G>A
ENST00000684555.1:c.*2348G>A	ENSP00000507705.1:n.*2348G>A
ENST00000684571.1:c.3977G>A	ENSP00000506935.1:p.Arg1326His
ENST00000684593.1:c.*3841G>A	ENSP00000507005.1:n.*3841G>A
ENST00000684711.1:c.*2532G>A	ENSP00000506841.1:n.*2532G>A
ENST00000302539.9:c.4139G>A	ENSP00000303960.4:p.Arg1380His
ENST00000389817.8:c.4136G>A MANE Select	ENSP00000374467.4:p.Arg1379His
ENST00000642271.1:c.4133G>A	ENSP00000493749.1:p.Arg1378His
ENST00000642579.1:c.2190G>A
ENST00000642611.1:n.5221G>A
ENST00000642902.1:c.3918G>A
ENST00000643260.1:c.4136G>A	ENSP00000494450.1:p.Arg1379His
ENST00000643562.1:c.*2258G>A	ENSP00000496124.1:n.*2258G>A
ENST00000643925.1:c.2776G>A
ENST00000644057.1:n.213G>A
ENST00000644484.1:c.*3522G>A	ENSP00000493558.1:n.*3522G>A
ENST00000644675.1:c.*2308G>A	ENSP00000494567.1:n.*2308G>A
ENST00000644757.1:c.*3202+350G>A	ENSP00000495085.1:n.*3202+350G>A
ENST00000644772.1:c.4202G>A	ENSP00000494321.1:p.Arg1401His
ENST00000645004.1:n.1829G>A
ENST00000645076.1:c.3335G>A
ENST00000645417.1:c.1324G>A
ENST00000645744.1:c.*3901G>A	ENSP00000494564.1:n.*3901G>A
ENST00000645760.1:c.4557G>A
ENST00000645884.1:c.*1419G>A	ENSP00000495516.1:n.*1419G>A
ENST00000646003.1:c.*2238G>A	ENSP00000495259.1:n.*2238G>A
ENST00000646207.1:c.*2973G>A	ENSP00000495025.1:n.*2973G>A
ENST00000646276.1:c.*3540G>A	ENSP00000496070.1:n.*3540G>A
ENST00000646592.1:c.3442G>A
ENST00000646902.1:c.4103G>A	ENSP00000494101.1:p.Arg1368His
ENST00000646993.1:c.*2678G>A	ENSP00000493720.1:n.*2678G>A
ENST00000647013.1:c.4142G>A	ENSP00000496741.1:n.4142G>A
ENST00000647015.1:c.3887G>A	ENSP00000495389.1:p.Arg1296His
ENST00000647086.1:c.*3722G>A	ENSP00000493677.1:n.*3722G>A
ENST00000647158.1:c.*2423G>A	ENSP00000495744.1:n.*2423G>A
ENST00000302539.8:c.4139G>A	ENSP00000303960.4:p.Arg1380His
ENST00000389817.7:c.4136G>A	ENSP00000374467.3:p.Arg1379His
ENST00000525022.1:n.2G>A
ENST00000526168.5:c.4G>A
ENST00000532220.1:n.610G>A
NM_000352.4:c.4136G>A	NP_000343.2:p.Arg1379His
NM_001287174.1:c.4139G>A	NP_001274103.1:p.Arg1380His
XM_011520331.1:c.4136G>A	XP_011518633.1:p.Arg1379His
XM_011520332.1:c.4139G>A	XP_011518634.1:p.Arg1380His
XM_011520333.1:c.2636G>A	XP_011518635.1:p.Arg879His
XR_930890.1:n.4202G>A
NM_001351295.1:c.4202G>A	NP_001338224.1:p.Arg1401His
NM_001351296.1:c.4136G>A	NP_001338225.1:p.Arg1379His
NM_001351297.1:c.4133G>A	NP_001338226.1:p.Arg1378His
NR_147094.1:n.4431G>A
XM_017018197.2:c.4205G>A	XP_016873686.1:p.Arg1402His
XM_017018199.1:c.4202G>A	XP_016873688.1:p.Arg1401His
XM_017018201.2:c.4205G>A	XP_016873690.1:p.Arg1402His
XM_017018202.1:c.2702G>A	XP_016873691.1:p.Arg901His
XM_017018204.1:c.2093G>A	XP_016873693.1:p.Arg698His
XM_024448668.1:c.2504G>A	XP_024304436.1:p.Arg835His
XR_001747945.2:n.4277G>A
XR_001747946.2:n.4208G>A
XR_002957189.1:n.5858G>A
NM_000352.6:c.4136G>A MANE Select	NP_000343.2:p.Arg1379His
NM_001287174.2:c.4139G>A	NP_001274103.1:p.Arg1380His
NM_001351295.2:c.4202G>A	NP_001338224.1:p.Arg1401His
NM_001351296.2:c.4136G>A	NP_001338225.1:p.Arg1379His
NM_001351297.2:c.4133G>A	NP_001338226.1:p.Arg1378His
NR_147094.2:n.4431G>A
NM_001287174.3:c.4139G>A	NP_001274103.1:p.Arg1380His