Canonical Allele Identifier: CA379782032

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 3032305
• ClinVar RCV Id: RCV004534584
• MyVariant Identifiers: chr11:g.17415275G>C (hg19) ; chr11:g.17393728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393728G>C , CM000673.2:g.17393728G>C	GRCh38
NC_000011.9:g.17415275G>C , CM000673.1:g.17415275G>C	GRCh37
NC_000011.8:g.17371851G>C	NCBI36
NG_008867.1:g.88175C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4178C>G
ENST00000526037.6:n.512C>G
ENST00000528374.2:c.1168C>G
ENST00000529967.6:n.2916C>G
ENST00000532220.2:n.3810C>G
ENST00000642611.2:n.5910C>G
ENST00000644057.2:n.1153C>G
ENST00000645004.2:n.2076C>G
ENST00000682051.1:n.4739C>G
ENST00000682110.1:n.4792C>G
ENST00000682140.1:c.*363C>G	ENSP00000507829.1:n.*363C>G
ENST00000682185.1:n.5882C>G
ENST00000682204.1:c.*2715C>G	ENSP00000507094.1:n.*2715C>G
ENST00000682215.1:n.5159C>G
ENST00000682288.1:c.*3008C>G	ENSP00000507506.1:n.*3008C>G
ENST00000682442.1:n.5012C>G
ENST00000682528.1:n.4869C>G
ENST00000682673.1:n.4736C>G
ENST00000682805.1:n.5197C>G
ENST00000682965.1:c.*999C>G	ENSP00000508229.1:n.*999C>G
ENST00000683093.1:n.5772C>G
ENST00000683136.1:c.4460C>G	ENSP00000507768.1:p.Ala1487Gly
ENST00000683153.1:n.4834C>G
ENST00000683365.1:n.4894C>G
ENST00000683377.1:n.4688C>G
ENST00000683456.1:c.*1714C>G	ENSP00000508318.1:n.*1714C>G
ENST00000683522.1:n.4874C>G
ENST00000683562.1:c.*2642C>G	ENSP00000508265.1:n.*2642C>G
ENST00000683693.1:n.6253C>G
ENST00000683725.1:c.*42C>G	ENSP00000507496.1:n.*42C>G
ENST00000684010.1:n.4787C>G
ENST00000684014.1:n.764C>G
ENST00000684157.1:n.5777C>G
ENST00000684253.1:n.4695C>G
ENST00000684288.1:c.*2749C>G	ENSP00000507143.1:n.*2749C>G
ENST00000684313.1:n.4224C>G
ENST00000684332.1:n.4865C>G
ENST00000684371.1:n.4898C>G
ENST00000684404.1:n.5820C>G
ENST00000684442.1:n.5016C>G
ENST00000684555.1:c.*2789C>G	ENSP00000507705.1:n.*2789C>G
ENST00000684571.1:c.4418C>G	ENSP00000506935.1:p.Ala1473Gly
ENST00000684593.1:c.*4282C>G	ENSP00000507005.1:n.*4282C>G
ENST00000684711.1:c.*2973C>G	ENSP00000506841.1:n.*2973C>G
ENST00000302539.9:c.4580C>G	ENSP00000303960.4:p.Ala1527Gly
ENST00000389817.8:c.4577C>G MANE Select	ENSP00000374467.4:p.Ala1526Gly
ENST00000642271.1:c.4574C>G	ENSP00000493749.1:p.Ala1525Gly
ENST00000642579.1:c.2631C>G
ENST00000642611.1:n.5795C>G
ENST00000642902.1:c.4359C>G
ENST00000643260.1:c.4577C>G	ENSP00000494450.1:p.Ala1526Gly
ENST00000643562.1:c.*2699C>G	ENSP00000496124.1:n.*2699C>G
ENST00000643925.1:c.3185+538C>G
ENST00000644057.1:n.736C>G
ENST00000644484.1:c.*3963C>G	ENSP00000493558.1:n.*3963C>G
ENST00000644675.1:c.*2749C>G	ENSP00000494567.1:n.*2749C>G
ENST00000644757.1:c.*3203-748C>G	ENSP00000495085.1:n.*3203-748C>G
ENST00000644772.1:c.4643C>G	ENSP00000494321.1:p.Ala1548Gly
ENST00000645004.1:n.2270C>G
ENST00000645076.1:c.3672C>G
ENST00000645417.1:c.1765C>G
ENST00000645744.1:c.*4262C>G	ENSP00000494564.1:n.*4262C>G
ENST00000645760.1:c.4998C>G
ENST00000645884.1:c.*1860C>G	ENSP00000495516.1:n.*1860C>G
ENST00000646003.1:c.*2599C>G	ENSP00000495259.1:n.*2599C>G
ENST00000646207.1:c.*3414C>G	ENSP00000495025.1:n.*3414C>G
ENST00000646276.1:c.*3981C>G	ENSP00000496070.1:n.*3981C>G
ENST00000646592.1:c.3883C>G
ENST00000646902.1:c.4544C>G	ENSP00000494101.1:p.Ala1515Gly
ENST00000646993.1:c.*3015C>G	ENSP00000493720.1:n.*3015C>G
ENST00000647015.1:c.4328C>G	ENSP00000495389.1:p.Ala1443Gly
ENST00000647086.1:c.*4163C>G	ENSP00000493677.1:n.*4163C>G
ENST00000647158.1:c.*2864C>G	ENSP00000495744.1:n.*2864C>G
ENST00000302539.8:c.4580C>G	ENSP00000303960.4:p.Ala1527Gly
ENST00000389817.7:c.4577C>G	ENSP00000374467.3:p.Ala1526Gly
ENST00000525022.1:n.472C>G
ENST00000526037.5:n.337C>G
ENST00000526168.5:c.365C>G
ENST00000531642.5:c.608C>G
NM_000352.4:c.4577C>G	NP_000343.2:p.Ala1526Gly
NM_001287174.1:c.4580C>G	NP_001274103.1:p.Ala1527Gly
XM_011520331.1:c.4577C>G	XP_011518633.1:p.Ala1526Gly
XM_011520333.1:c.3077C>G	XP_011518635.1:p.Ala1026Gly
XR_930890.1:n.4539C>G
NM_001351295.1:c.4643C>G	NP_001338224.1:p.Ala1548Gly
NM_001351296.1:c.4577C>G	NP_001338225.1:p.Ala1526Gly
NM_001351297.1:c.4574C>G	NP_001338226.1:p.Ala1525Gly
NR_147094.1:n.4872C>G
XM_017018197.2:c.4646C>G	XP_016873686.1:p.Ala1549Gly
XM_017018199.1:c.4643C>G	XP_016873688.1:p.Ala1548Gly
XM_017018202.1:c.3143C>G	XP_016873691.1:p.Ala1048Gly
XM_017018204.1:c.2534C>G	XP_016873693.1:p.Ala845Gly
XM_024448668.1:c.2945C>G	XP_024304436.1:p.Ala982Gly
XR_001747945.2:n.4614C>G
XR_001747946.2:n.4545C>G
XR_002957189.1:n.6328C>G
NM_000352.6:c.4577C>G MANE Select	NP_000343.2:p.Ala1526Gly
NM_001287174.2:c.4580C>G	NP_001274103.1:p.Ala1527Gly
NM_001351295.2:c.4643C>G	NP_001338224.1:p.Ala1548Gly
NM_001351296.2:c.4577C>G	NP_001338225.1:p.Ala1526Gly
NM_001351297.2:c.4574C>G	NP_001338226.1:p.Ala1525Gly
NR_147094.2:n.4872C>G
NM_001287174.3:c.4580C>G	NP_001274103.1:p.Ala1527Gly