Canonical Allele Identifier: CA379781970

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415267C>A (hg19) ; chr11:g.17393720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393720C>A , CM000673.2:g.17393720C>A	GRCh38
NC_000011.9:g.17415267C>A , CM000673.1:g.17415267C>A	GRCh37
NC_000011.8:g.17371843C>A	NCBI36
NG_008867.1:g.88183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4186G>T
ENST00000526037.6:n.520G>T
ENST00000528374.2:c.1176G>T
ENST00000529967.6:n.2924G>T
ENST00000532220.2:n.3818G>T
ENST00000642611.2:n.5918G>T
ENST00000644057.2:n.1161G>T
ENST00000645004.2:n.2084G>T
ENST00000682051.1:n.4747G>T
ENST00000682110.1:n.4800G>T
ENST00000682140.1:c.*371G>T	ENSP00000507829.1:n.*371G>T
ENST00000682185.1:n.5890G>T
ENST00000682204.1:c.*2723G>T	ENSP00000507094.1:n.*2723G>T
ENST00000682215.1:n.5167G>T
ENST00000682288.1:c.*3016G>T	ENSP00000507506.1:n.*3016G>T
ENST00000682442.1:n.5020G>T
ENST00000682528.1:n.4877G>T
ENST00000682673.1:n.4744G>T
ENST00000682805.1:n.5205G>T
ENST00000682965.1:c.*1007G>T	ENSP00000508229.1:n.*1007G>T
ENST00000683093.1:n.5780G>T
ENST00000683136.1:c.4468G>T	ENSP00000507768.1:p.Asp1490Tyr
ENST00000683153.1:n.4842G>T
ENST00000683365.1:n.4902G>T
ENST00000683377.1:n.4696G>T
ENST00000683456.1:c.*1722G>T	ENSP00000508318.1:n.*1722G>T
ENST00000683522.1:n.4882G>T
ENST00000683562.1:c.*2650G>T	ENSP00000508265.1:n.*2650G>T
ENST00000683693.1:n.6261G>T
ENST00000683725.1:c.*50G>T	ENSP00000507496.1:n.*50G>T
ENST00000684010.1:n.4795G>T
ENST00000684014.1:n.772G>T
ENST00000684157.1:n.5785G>T
ENST00000684253.1:n.4703G>T
ENST00000684288.1:c.*2757G>T	ENSP00000507143.1:n.*2757G>T
ENST00000684313.1:n.4232G>T
ENST00000684332.1:n.4873G>T
ENST00000684371.1:n.4906G>T
ENST00000684404.1:n.5828G>T
ENST00000684442.1:n.5024G>T
ENST00000684555.1:c.*2797G>T	ENSP00000507705.1:n.*2797G>T
ENST00000684571.1:c.4426G>T	ENSP00000506935.1:p.Asp1476Tyr
ENST00000684593.1:c.*4290G>T	ENSP00000507005.1:n.*4290G>T
ENST00000684711.1:c.*2981G>T	ENSP00000506841.1:n.*2981G>T
ENST00000302539.9:c.4588G>T	ENSP00000303960.4:p.Asp1530Tyr
ENST00000389817.8:c.4585G>T MANE Select	ENSP00000374467.4:p.Asp1529Tyr
ENST00000642271.1:c.4582G>T	ENSP00000493749.1:p.Asp1528Tyr
ENST00000642579.1:c.2639G>T
ENST00000642611.1:n.5803G>T
ENST00000642902.1:c.4367G>T
ENST00000643260.1:c.4585G>T	ENSP00000494450.1:p.Asp1529Tyr
ENST00000643562.1:c.*2707G>T	ENSP00000496124.1:n.*2707G>T
ENST00000643925.1:c.3185+546G>T
ENST00000644057.1:n.744G>T
ENST00000644484.1:c.*3971G>T	ENSP00000493558.1:n.*3971G>T
ENST00000644675.1:c.*2757G>T	ENSP00000494567.1:n.*2757G>T
ENST00000644757.1:c.*3203-740G>T	ENSP00000495085.1:n.*3203-740G>T
ENST00000644772.1:c.4651G>T	ENSP00000494321.1:p.Asp1551Tyr
ENST00000645004.1:n.2278G>T
ENST00000645076.1:c.3680G>T
ENST00000645417.1:c.1773G>T
ENST00000645744.1:c.*4270G>T	ENSP00000494564.1:n.*4270G>T
ENST00000645760.1:c.5006G>T
ENST00000645884.1:c.*1868G>T	ENSP00000495516.1:n.*1868G>T
ENST00000646003.1:c.*2607G>T	ENSP00000495259.1:n.*2607G>T
ENST00000646207.1:c.*3422G>T	ENSP00000495025.1:n.*3422G>T
ENST00000646276.1:c.*3989G>T	ENSP00000496070.1:n.*3989G>T
ENST00000646592.1:c.3891G>T
ENST00000646902.1:c.4552G>T	ENSP00000494101.1:p.Asp1518Tyr
ENST00000646993.1:c.*3023G>T	ENSP00000493720.1:n.*3023G>T
ENST00000647015.1:c.4336G>T	ENSP00000495389.1:p.Asp1446Tyr
ENST00000647086.1:c.*4171G>T	ENSP00000493677.1:n.*4171G>T
ENST00000647158.1:c.*2872G>T	ENSP00000495744.1:n.*2872G>T
ENST00000302539.8:c.4588G>T	ENSP00000303960.4:p.Asp1530Tyr
ENST00000389817.7:c.4585G>T	ENSP00000374467.3:p.Asp1529Tyr
ENST00000525022.1:n.480G>T
ENST00000526037.5:n.345G>T
ENST00000526168.5:c.373G>T
ENST00000531642.5:c.616G>T
NM_000352.4:c.4585G>T	NP_000343.2:p.Asp1529Tyr
NM_001287174.1:c.4588G>T	NP_001274103.1:p.Asp1530Tyr
XM_011520331.1:c.4585G>T	XP_011518633.1:p.Asp1529Tyr
XM_011520333.1:c.3085G>T	XP_011518635.1:p.Asp1029Tyr
XR_930890.1:n.4547G>T
NM_001351295.1:c.4651G>T	NP_001338224.1:p.Asp1551Tyr
NM_001351296.1:c.4585G>T	NP_001338225.1:p.Asp1529Tyr
NM_001351297.1:c.4582G>T	NP_001338226.1:p.Asp1528Tyr
NR_147094.1:n.4880G>T
XM_017018197.2:c.4654G>T	XP_016873686.1:p.Asp1552Tyr
XM_017018199.1:c.4651G>T	XP_016873688.1:p.Asp1551Tyr
XM_017018202.1:c.3151G>T	XP_016873691.1:p.Asp1051Tyr
XM_017018204.1:c.2542G>T	XP_016873693.1:p.Asp848Tyr
XM_024448668.1:c.2953G>T	XP_024304436.1:p.Asp985Tyr
XR_001747945.2:n.4622G>T
XR_001747946.2:n.4553G>T
XR_002957189.1:n.6336G>T
NM_000352.6:c.4585G>T MANE Select	NP_000343.2:p.Asp1529Tyr
NM_001287174.2:c.4588G>T	NP_001274103.1:p.Asp1530Tyr
NM_001351295.2:c.4651G>T	NP_001338224.1:p.Asp1551Tyr
NM_001351296.2:c.4585G>T	NP_001338225.1:p.Asp1529Tyr
NM_001351297.2:c.4582G>T	NP_001338226.1:p.Asp1528Tyr
NR_147094.2:n.4880G>T
NM_001287174.3:c.4588G>T	NP_001274103.1:p.Asp1530Tyr