Canonical Allele Identifier: CA379806522

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432159G>C (hg19) ; chr11:g.17410612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410612G>C , CM000673.2:g.17410612G>C	GRCh38
NC_000011.9:g.17432159G>C , CM000673.1:g.17432159G>C	GRCh37
NC_000011.8:g.17388735G>C	NCBI36
NG_008867.1:g.71291C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2267C>G
ENST00000529967.6:n.857C>G
ENST00000642611.2:n.2667C>G
ENST00000682051.1:n.2614C>G
ENST00000682110.1:n.2667C>G
ENST00000682140.1:c.2595C>G	ENSP00000507829.1:p.His865Gln
ENST00000682185.1:n.3903C>G
ENST00000682204.1:c.*736C>G	ENSP00000507094.1:n.*736C>G
ENST00000682215.1:n.2664C>G
ENST00000682288.1:c.*1029C>G	ENSP00000507506.1:n.*1029C>G
ENST00000682442.1:n.2788C>G
ENST00000682528.1:n.2664C>G
ENST00000682673.1:n.2611C>G
ENST00000682805.1:n.2664C>G
ENST00000682965.1:c.2595C>G	ENSP00000508229.1:p.His865Gln
ENST00000683093.1:n.2766C>G
ENST00000683136.1:c.2595C>G	ENSP00000507768.1:p.His865Gln
ENST00000683153.1:n.2823C>G
ENST00000683365.1:n.2769C>G
ENST00000683377.1:n.2667C>G
ENST00000683456.1:c.2598C>G	ENSP00000508318.1:p.His866Gln
ENST00000683522.1:n.2667C>G
ENST00000683562.1:c.*767C>G	ENSP00000508265.1:n.*767C>G
ENST00000683693.1:n.2664C>G
ENST00000683725.1:c.2598C>G	ENSP00000507496.1:p.His866Gln
ENST00000684010.1:n.2582C>G
ENST00000684157.1:n.2667C>G
ENST00000684253.1:n.2570C>G
ENST00000684288.1:c.*770C>G	ENSP00000507143.1:n.*770C>G
ENST00000684313.1:n.2099C>G
ENST00000684332.1:n.2740C>G
ENST00000684371.1:n.2773C>G
ENST00000684404.1:n.2664C>G
ENST00000684442.1:n.2667C>G
ENST00000684555.1:c.*810C>G	ENSP00000507705.1:n.*810C>G
ENST00000684571.1:c.2439C>G	ENSP00000506935.1:p.His813Gln
ENST00000684593.1:c.*2303C>G	ENSP00000507005.1:n.*2303C>G
ENST00000684711.1:c.*994C>G	ENSP00000506841.1:n.*994C>G
ENST00000302539.9:c.2601C>G	ENSP00000303960.4:p.His867Gln
ENST00000389817.8:c.2598C>G MANE Select	ENSP00000374467.4:p.His866Gln
ENST00000642271.1:c.2595C>G	ENSP00000493749.1:p.His865Gln
ENST00000642579.1:c.682C>G
ENST00000642611.1:n.2552C>G
ENST00000642902.1:c.2433C>G
ENST00000643260.1:c.2598C>G	ENSP00000494450.1:p.His866Gln
ENST00000643562.1:c.*574C>G	ENSP00000496124.1:n.*574C>G
ENST00000643925.1:c.642C>G
ENST00000644447.1:c.954C>G	ENSP00000496282.1:p.His318Gln
ENST00000644472.1:c.*959C>G	ENSP00000495378.1:n.*959C>G
ENST00000644484.1:c.*807C>G	ENSP00000493558.1:n.*807C>G
ENST00000644542.1:c.*2303C>G	ENSP00000495532.1:n.*2303C>G
ENST00000644675.1:c.*770C>G	ENSP00000494567.1:n.*770C>G
ENST00000644757.1:c.*903C>G	ENSP00000495085.1:n.*903C>G
ENST00000644772.1:c.2664C>G	ENSP00000494321.1:p.His888Gln
ENST00000645076.1:c.1850C>G
ENST00000645744.1:c.*962C>G	ENSP00000494564.1:n.*962C>G
ENST00000645760.1:c.2873C>G
ENST00000645884.1:c.2598C>G	ENSP00000495516.1:p.His866Gln
ENST00000646003.1:c.*654C>G	ENSP00000495259.1:n.*654C>G
ENST00000646207.1:c.*962C>G	ENSP00000495025.1:n.*962C>G
ENST00000646276.1:c.*871C>G	ENSP00000496070.1:n.*871C>G
ENST00000646592.1:c.1824C>G
ENST00000646902.1:c.2595C>G	ENSP00000494101.1:p.His865Gln
ENST00000646993.1:c.*994C>G	ENSP00000493720.1:n.*994C>G
ENST00000647013.1:c.2604C>G	ENSP00000496741.1:n.2604C>G
ENST00000647015.1:c.2349C>G	ENSP00000495389.1:p.His783Gln
ENST00000647086.1:c.*2328C>G	ENSP00000493677.1:n.*2328C>G
ENST00000647158.1:c.*739C>G	ENSP00000495744.1:n.*739C>G
ENST00000302539.8:c.2601C>G	ENSP00000303960.4:p.His867Gln
ENST00000389817.7:c.2598C>G	ENSP00000374467.3:p.His866Gln
ENST00000526921.5:n.282C>G
ENST00000527905.5:c.2568C>G	ENSP00000431653.1:p.His856Gln
ENST00000529967.5:n.267C>G
ENST00000530147.5:n.181C>G
ENST00000531911.1:n.712C>G
NM_000352.4:c.2598C>G	NP_000343.2:p.His866Gln
NM_001287174.1:c.2601C>G	NP_001274103.1:p.His867Gln
XM_011520331.1:c.2598C>G	XP_011518633.1:p.His866Gln
XM_011520332.1:c.2601C>G	XP_011518634.1:p.His867Gln
XM_011520333.1:c.1098C>G	XP_011518635.1:p.His366Gln
XM_011520334.1:c.2601C>G	XP_011518636.1:p.His867Gln
XR_930890.1:n.2664C>G
XR_930891.1:n.2664C>G
XR_930892.1:n.2664C>G
XR_930893.1:n.2661C>G
NM_001351295.1:c.2664C>G	NP_001338224.1:p.His888Gln
NM_001351296.1:c.2598C>G	NP_001338225.1:p.His866Gln
NM_001351297.1:c.2595C>G	NP_001338226.1:p.His865Gln
NR_147094.1:n.2667C>G
XM_017018197.2:c.2667C>G	XP_016873686.1:p.His889Gln
XM_017018199.1:c.2664C>G	XP_016873688.1:p.His888Gln
XM_017018201.2:c.2667C>G	XP_016873690.1:p.His889Gln
XM_017018202.1:c.1164C>G	XP_016873691.1:p.His388Gln
XM_017018204.1:c.555C>G	XP_016873693.1:p.His185Gln
XM_024448668.1:c.966C>G	XP_024304436.1:p.His322Gln
XR_001747945.2:n.2739C>G
XR_001747946.2:n.2670C>G
XR_002957189.1:n.2739C>G
NM_000352.6:c.2598C>G MANE Select	NP_000343.2:p.His866Gln
NM_001287174.2:c.2601C>G	NP_001274103.1:p.His867Gln
NM_001351295.2:c.2664C>G	NP_001338224.1:p.His888Gln
NM_001351296.2:c.2598C>G	NP_001338225.1:p.His866Gln
NM_001351297.2:c.2595C>G	NP_001338226.1:p.His865Gln
NR_147094.2:n.2667C>G
NM_001287174.3:c.2601C>G	NP_001274103.1:p.His867Gln