Canonical Allele Identifier: CA5902424

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2628701
• ClinVar RCV Id: RCV004529678
• dbSNP Id: rs747928876
• ExAC: 11:17415263 C / T
• gnomAD v2: 11-17415263-C-T
• gnomAD v3: 11-17393716-C-T
• gnomAD v4: 11-17393716-C-T
• MyVariant Identifiers: chr11:g.17415263C>T (hg19) ; chr11:g.17393716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393716C>T , CM000673.2:g.17393716C>T	GRCh38
NC_000011.9:g.17415263C>T , CM000673.1:g.17415263C>T	GRCh37
NC_000011.8:g.17371839C>T	NCBI36
NG_008867.1:g.88187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4190G>A
ENST00000526037.6:n.524G>A
ENST00000528374.2:c.1180G>A
ENST00000529967.6:n.2928G>A
ENST00000532220.2:n.3822G>A
ENST00000642611.2:n.5922G>A
ENST00000644057.2:n.1165G>A
ENST00000645004.2:n.2088G>A
ENST00000682051.1:n.4751G>A
ENST00000682110.1:n.4804G>A
ENST00000682140.1:c.*375G>A	ENSP00000507829.1:n.*375G>A
ENST00000682185.1:n.5894G>A
ENST00000682204.1:c.*2727G>A	ENSP00000507094.1:n.*2727G>A
ENST00000682215.1:n.5171G>A
ENST00000682288.1:c.*3020G>A	ENSP00000507506.1:n.*3020G>A
ENST00000682442.1:n.5024G>A
ENST00000682528.1:n.4881G>A
ENST00000682673.1:n.4748G>A
ENST00000682805.1:n.5209G>A
ENST00000682965.1:c.*1011G>A	ENSP00000508229.1:n.*1011G>A
ENST00000683093.1:n.5784G>A
ENST00000683136.1:c.4472G>A	ENSP00000507768.1:p.Arg1491His
ENST00000683153.1:n.4846G>A
ENST00000683365.1:n.4906G>A
ENST00000683377.1:n.4700G>A
ENST00000683456.1:c.*1726G>A	ENSP00000508318.1:n.*1726G>A
ENST00000683522.1:n.4886G>A
ENST00000683562.1:c.*2654G>A	ENSP00000508265.1:n.*2654G>A
ENST00000683693.1:n.6265G>A
ENST00000683725.1:c.*54G>A	ENSP00000507496.1:n.*54G>A
ENST00000684010.1:n.4799G>A
ENST00000684014.1:n.776G>A
ENST00000684157.1:n.5789G>A
ENST00000684253.1:n.4707G>A
ENST00000684288.1:c.*2761G>A	ENSP00000507143.1:n.*2761G>A
ENST00000684313.1:n.4236G>A
ENST00000684332.1:n.4877G>A
ENST00000684371.1:n.4910G>A
ENST00000684404.1:n.5832G>A
ENST00000684442.1:n.5028G>A
ENST00000684555.1:c.*2801G>A	ENSP00000507705.1:n.*2801G>A
ENST00000684571.1:c.4430G>A	ENSP00000506935.1:p.Arg1477His
ENST00000684593.1:c.*4294G>A	ENSP00000507005.1:n.*4294G>A
ENST00000684711.1:c.*2985G>A	ENSP00000506841.1:n.*2985G>A
ENST00000302539.9:c.4592G>A	ENSP00000303960.4:p.Arg1531His
ENST00000389817.8:c.4589G>A MANE Select	ENSP00000374467.4:p.Arg1530His
ENST00000642271.1:c.4586G>A	ENSP00000493749.1:p.Arg1529His
ENST00000642579.1:c.2643G>A
ENST00000642611.1:n.5807G>A
ENST00000642902.1:c.4371G>A
ENST00000643260.1:c.4589G>A	ENSP00000494450.1:p.Arg1530His
ENST00000643562.1:c.*2711G>A	ENSP00000496124.1:n.*2711G>A
ENST00000643925.1:c.3185+550G>A
ENST00000644057.1:n.748G>A
ENST00000644484.1:c.*3975G>A	ENSP00000493558.1:n.*3975G>A
ENST00000644675.1:c.*2761G>A	ENSP00000494567.1:n.*2761G>A
ENST00000644757.1:c.*3203-736G>A	ENSP00000495085.1:n.*3203-736G>A
ENST00000644772.1:c.4655G>A	ENSP00000494321.1:p.Arg1552His
ENST00000645004.1:n.2282G>A
ENST00000645076.1:c.3684G>A
ENST00000645417.1:c.1777G>A
ENST00000645744.1:c.*4274G>A	ENSP00000494564.1:n.*4274G>A
ENST00000645760.1:c.5010G>A
ENST00000645884.1:c.*1872G>A	ENSP00000495516.1:n.*1872G>A
ENST00000646003.1:c.*2611G>A	ENSP00000495259.1:n.*2611G>A
ENST00000646207.1:c.*3426G>A	ENSP00000495025.1:n.*3426G>A
ENST00000646276.1:c.*3993G>A	ENSP00000496070.1:n.*3993G>A
ENST00000646592.1:c.3895G>A
ENST00000646902.1:c.4556G>A	ENSP00000494101.1:p.Arg1519His
ENST00000646993.1:c.*3027G>A	ENSP00000493720.1:n.*3027G>A
ENST00000647015.1:c.4340G>A	ENSP00000495389.1:p.Arg1447His
ENST00000647086.1:c.*4175G>A	ENSP00000493677.1:n.*4175G>A
ENST00000647158.1:c.*2876G>A	ENSP00000495744.1:n.*2876G>A
ENST00000302539.8:c.4592G>A	ENSP00000303960.4:p.Arg1531His
ENST00000389817.7:c.4589G>A	ENSP00000374467.3:p.Arg1530His
ENST00000525022.1:n.484G>A
ENST00000526037.5:n.349G>A
ENST00000526168.5:c.377G>A
ENST00000531642.5:c.620G>A
NM_000352.4:c.4589G>A	NP_000343.2:p.Arg1530His
NM_001287174.1:c.4592G>A	NP_001274103.1:p.Arg1531His
XM_011520331.1:c.4589G>A	XP_011518633.1:p.Arg1530His
XM_011520333.1:c.3089G>A	XP_011518635.1:p.Arg1030His
XR_930890.1:n.4551G>A
NM_001351295.1:c.4655G>A	NP_001338224.1:p.Arg1552His
NM_001351296.1:c.4589G>A	NP_001338225.1:p.Arg1530His
NM_001351297.1:c.4586G>A	NP_001338226.1:p.Arg1529His
NR_147094.1:n.4884G>A
XM_017018197.2:c.4658G>A	XP_016873686.1:p.Arg1553His
XM_017018199.1:c.4655G>A	XP_016873688.1:p.Arg1552His
XM_017018202.1:c.3155G>A	XP_016873691.1:p.Arg1052His
XM_017018204.1:c.2546G>A	XP_016873693.1:p.Arg849His
XM_024448668.1:c.2957G>A	XP_024304436.1:p.Arg986His
XR_001747945.2:n.4626G>A
XR_001747946.2:n.4557G>A
XR_002957189.1:n.6340G>A
NM_000352.6:c.4589G>A MANE Select	NP_000343.2:p.Arg1530His
NM_001287174.2:c.4592G>A	NP_001274103.1:p.Arg1531His
NM_001351295.2:c.4655G>A	NP_001338224.1:p.Arg1552His
NM_001351296.2:c.4589G>A	NP_001338225.1:p.Arg1530His
NM_001351297.2:c.4586G>A	NP_001338226.1:p.Arg1529His
NR_147094.2:n.4884G>A
NM_001287174.3:c.4592G>A	NP_001274103.1:p.Arg1531His