Canonical Allele Identifier: CA379781244

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414626C>G (hg19) ; chr11:g.17393079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393079C>G , CM000673.2:g.17393079C>G	GRCh38
NC_000011.9:g.17414626C>G , CM000673.1:g.17414626C>G	GRCh37
NC_000011.8:g.17371202C>G	NCBI36
NG_008867.1:g.88824G>C
NG_012446.1:g.581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4259G>C
ENST00000526037.6:n.593G>C
ENST00000528374.2:c.1249G>C
ENST00000529967.6:n.2997G>C
ENST00000532220.2:n.3891G>C
ENST00000642611.2:n.5991G>C
ENST00000644057.2:n.1234G>C
ENST00000645004.2:n.2157G>C
ENST00000682051.1:n.4820G>C
ENST00000682110.1:n.4873G>C
ENST00000682140.1:c.*444G>C	ENSP00000507829.1:n.*444G>C
ENST00000682185.1:n.5963G>C
ENST00000682204.1:c.*2796G>C	ENSP00000507094.1:n.*2796G>C
ENST00000682215.1:n.5240G>C
ENST00000682288.1:c.*3089G>C	ENSP00000507506.1:n.*3089G>C
ENST00000682442.1:n.5093G>C
ENST00000682528.1:n.4950G>C
ENST00000682673.1:n.4817G>C
ENST00000682805.1:n.5278G>C
ENST00000682965.1:c.*1080G>C	ENSP00000508229.1:n.*1080G>C
ENST00000683093.1:n.5853G>C
ENST00000683136.1:c.4541G>C	ENSP00000507768.1:p.Arg1514Pro
ENST00000683153.1:n.4915G>C
ENST00000683365.1:n.4975G>C
ENST00000683377.1:n.4769G>C
ENST00000683456.1:c.*1795G>C	ENSP00000508318.1:n.*1795G>C
ENST00000683522.1:n.4955G>C
ENST00000683562.1:c.*2723G>C	ENSP00000508265.1:n.*2723G>C
ENST00000683693.1:n.6334G>C
ENST00000683725.1:c.*123G>C	ENSP00000507496.1:n.*123G>C
ENST00000684010.1:n.4868G>C
ENST00000684014.1:n.845G>C
ENST00000684157.1:n.5858G>C
ENST00000684253.1:n.4776G>C
ENST00000684288.1:c.*2830G>C	ENSP00000507143.1:n.*2830G>C
ENST00000684313.1:n.4305G>C
ENST00000684332.1:n.4946G>C
ENST00000684371.1:n.4979G>C
ENST00000684404.1:n.5901G>C
ENST00000684442.1:n.5097G>C
ENST00000684555.1:c.*2870G>C	ENSP00000507705.1:n.*2870G>C
ENST00000684571.1:c.4499G>C	ENSP00000506935.1:p.Arg1500Pro
ENST00000684593.1:c.*4363G>C	ENSP00000507005.1:n.*4363G>C
ENST00000684711.1:c.*3054G>C	ENSP00000506841.1:n.*3054G>C
ENST00000302539.9:c.4661G>C	ENSP00000303960.4:p.Arg1554Pro
ENST00000389817.8:c.4658G>C MANE Select	ENSP00000374467.4:p.Arg1553Pro
ENST00000642271.1:c.4655G>C	ENSP00000493749.1:p.Arg1552Pro
ENST00000642579.1:c.2712G>C
ENST00000642611.1:n.5876G>C
ENST00000642902.1:c.4440G>C
ENST00000643260.1:c.4658G>C	ENSP00000494450.1:p.Arg1553Pro
ENST00000643562.1:c.*2780G>C	ENSP00000496124.1:n.*2780G>C
ENST00000643925.1:c.3235G>C
ENST00000644057.1:n.817G>C
ENST00000644484.1:c.*4044G>C	ENSP00000493558.1:n.*4044G>C
ENST00000644675.1:c.*2830G>C	ENSP00000494567.1:n.*2830G>C
ENST00000644757.1:c.*3203-99G>C	ENSP00000495085.1:n.*3203-99G>C
ENST00000644772.1:c.4724G>C	ENSP00000494321.1:p.Arg1575Pro
ENST00000645004.1:n.2351G>C
ENST00000645076.1:c.3753G>C
ENST00000645417.1:c.1846G>C
ENST00000645760.1:c.5079G>C
ENST00000645884.1:c.*1941G>C	ENSP00000495516.1:n.*1941G>C
ENST00000646003.1:c.*2680G>C	ENSP00000495259.1:n.*2680G>C
ENST00000646207.1:c.*3495G>C	ENSP00000495025.1:n.*3495G>C
ENST00000646592.1:c.3964G>C
ENST00000646902.1:c.4625G>C	ENSP00000494101.1:p.Arg1542Pro
ENST00000646993.1:c.*3096G>C	ENSP00000493720.1:n.*3096G>C
ENST00000647015.1:c.4409G>C	ENSP00000495389.1:p.Arg1470Pro
ENST00000647086.1:c.*4244G>C	ENSP00000493677.1:n.*4244G>C
ENST00000647158.1:c.*2945G>C	ENSP00000495744.1:n.*2945G>C
ENST00000302539.8:c.4661G>C	ENSP00000303960.4:p.Arg1554Pro
ENST00000389817.7:c.4658G>C	ENSP00000374467.3:p.Arg1553Pro
ENST00000525022.1:n.637G>C
ENST00000526037.5:n.418G>C
ENST00000526168.5:c.446G>C
ENST00000531642.5:c.689G>C
NM_000352.4:c.4658G>C	NP_000343.2:p.Arg1553Pro
NM_001287174.1:c.4661G>C	NP_001274103.1:p.Arg1554Pro
XM_011520331.1:c.4658G>C	XP_011518633.1:p.Arg1553Pro
XM_011520333.1:c.3158G>C	XP_011518635.1:p.Arg1053Pro
XR_930890.1:n.4620G>C
NM_001351295.1:c.4724G>C	NP_001338224.1:p.Arg1575Pro
NM_001351296.1:c.4658G>C	NP_001338225.1:p.Arg1553Pro
NM_001351297.1:c.4655G>C	NP_001338226.1:p.Arg1552Pro
NR_147094.1:n.4953G>C
XM_017018197.2:c.4727G>C	XP_016873686.1:p.Arg1576Pro
XM_017018199.1:c.4724G>C	XP_016873688.1:p.Arg1575Pro
XM_017018202.1:c.3224G>C	XP_016873691.1:p.Arg1075Pro
XM_017018204.1:c.2615G>C	XP_016873693.1:p.Arg872Pro
XM_024448668.1:c.3026G>C	XP_024304436.1:p.Arg1009Pro
XR_001747945.2:n.4695G>C
XR_001747946.2:n.4626G>C
XR_002957189.1:n.6409G>C
NM_000352.6:c.4658G>C MANE Select	NP_000343.2:p.Arg1553Pro
NM_001287174.2:c.4661G>C	NP_001274103.1:p.Arg1554Pro
NM_001351295.2:c.4724G>C	NP_001338224.1:p.Arg1575Pro
NM_001351296.2:c.4658G>C	NP_001338225.1:p.Arg1553Pro
NM_001351297.2:c.4655G>C	NP_001338226.1:p.Arg1552Pro
NR_147094.2:n.4953G>C
NM_001287174.3:c.4661G>C	NP_001274103.1:p.Arg1554Pro