Canonical Allele Identifier: CA379786821

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417221G>C (hg19) ; chr11:g.17395674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395674G>C , CM000673.2:g.17395674G>C	GRCh38
NC_000011.9:g.17417221G>C , CM000673.1:g.17417221G>C	GRCh37
NC_000011.8:g.17373797G>C	NCBI36
NG_008867.1:g.86229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3844C>G
ENST00000528374.2:c.834C>G
ENST00000529967.6:n.2582C>G
ENST00000532220.2:n.3476C>G
ENST00000642611.2:n.5576C>G
ENST00000644057.2:n.819C>G
ENST00000645004.2:n.1742C>G
ENST00000682051.1:n.4405C>G
ENST00000682110.1:n.4458C>G
ENST00000682140.1:c.*29C>G	ENSP00000507829.1:n.*29C>G
ENST00000682185.1:n.5548C>G
ENST00000682204.1:c.*2381C>G	ENSP00000507094.1:n.*2381C>G
ENST00000682215.1:n.4825C>G
ENST00000682288.1:c.*2674C>G	ENSP00000507506.1:n.*2674C>G
ENST00000682442.1:n.4678C>G
ENST00000682528.1:n.4535C>G
ENST00000682673.1:n.4402C>G
ENST00000682805.1:n.4863C>G
ENST00000682965.1:c.*665C>G	ENSP00000508229.1:n.*665C>G
ENST00000683093.1:n.5542C>G
ENST00000683136.1:c.4126C>G	ENSP00000507768.1:p.His1376Asp
ENST00000683153.1:n.4500C>G
ENST00000683365.1:n.4560C>G
ENST00000683377.1:n.4458C>G
ENST00000683456.1:c.*1380C>G	ENSP00000508318.1:n.*1380C>G
ENST00000683522.1:n.4458C>G
ENST00000683562.1:c.*2412C>G	ENSP00000508265.1:n.*2412C>G
ENST00000683693.1:n.6023C>G
ENST00000683725.1:c.4243C>G	ENSP00000507496.1:p.His1415Asp
ENST00000684010.1:n.4453C>G
ENST00000684157.1:n.5443C>G
ENST00000684253.1:n.4361C>G
ENST00000684288.1:c.*2415C>G	ENSP00000507143.1:n.*2415C>G
ENST00000684313.1:n.3890C>G
ENST00000684332.1:n.4531C>G
ENST00000684371.1:n.4564C>G
ENST00000684404.1:n.5486C>G
ENST00000684442.1:n.4682C>G
ENST00000684555.1:c.*2455C>G	ENSP00000507705.1:n.*2455C>G
ENST00000684571.1:c.4084C>G	ENSP00000506935.1:p.His1362Asp
ENST00000684593.1:c.*3948C>G	ENSP00000507005.1:n.*3948C>G
ENST00000684711.1:c.*2639C>G	ENSP00000506841.1:n.*2639C>G
ENST00000302539.9:c.4246C>G	ENSP00000303960.4:p.His1416Asp
ENST00000389817.8:c.4243C>G MANE Select	ENSP00000374467.4:p.His1415Asp
ENST00000642271.1:c.4240C>G	ENSP00000493749.1:p.His1414Asp
ENST00000642579.1:c.2297C>G
ENST00000642611.1:n.5461C>G
ENST00000642902.1:c.4025C>G
ENST00000643260.1:c.4243C>G	ENSP00000494450.1:p.His1415Asp
ENST00000643562.1:c.*2365C>G	ENSP00000496124.1:n.*2365C>G
ENST00000643925.1:c.2883C>G
ENST00000644057.1:n.320C>G
ENST00000644484.1:c.*3629C>G	ENSP00000493558.1:n.*3629C>G
ENST00000644675.1:c.*2415C>G	ENSP00000494567.1:n.*2415C>G
ENST00000644757.1:c.*3202+590C>G	ENSP00000495085.1:n.*3202+590C>G
ENST00000644772.1:c.4309C>G	ENSP00000494321.1:p.His1437Asp
ENST00000645004.1:n.1936C>G
ENST00000645076.1:c.3442C>G
ENST00000645417.1:c.1431C>G
ENST00000645744.1:c.*3964-36C>G	ENSP00000494564.1:n.*3964-36C>G
ENST00000645760.1:c.4664C>G
ENST00000645884.1:c.*1526C>G	ENSP00000495516.1:n.*1526C>G
ENST00000646003.1:c.*2301-36C>G	ENSP00000495259.1:n.*2301-36C>G
ENST00000646207.1:c.*3080C>G	ENSP00000495025.1:n.*3080C>G
ENST00000646276.1:c.*3647C>G	ENSP00000496070.1:n.*3647C>G
ENST00000646592.1:c.3549C>G
ENST00000646902.1:c.4210C>G	ENSP00000494101.1:p.His1404Asp
ENST00000646993.1:c.*2785C>G	ENSP00000493720.1:n.*2785C>G
ENST00000647013.1:c.4249C>G	ENSP00000496741.1:n.4249C>G
ENST00000647015.1:c.3994C>G	ENSP00000495389.1:p.His1332Asp
ENST00000647086.1:c.*3829C>G	ENSP00000493677.1:n.*3829C>G
ENST00000647158.1:c.*2530C>G	ENSP00000495744.1:n.*2530C>G
ENST00000302539.8:c.4246C>G	ENSP00000303960.4:p.His1416Asp
ENST00000389817.7:c.4243C>G	ENSP00000374467.3:p.His1415Asp
ENST00000525022.1:n.242C>G
ENST00000526037.5:n.107C>G
ENST00000526168.5:c.67-36C>G
ENST00000531642.5:c.79C>G
NM_000352.4:c.4243C>G	NP_000343.2:p.His1415Asp
NM_001287174.1:c.4246C>G	NP_001274103.1:p.His1416Asp
XM_011520331.1:c.4243C>G	XP_011518633.1:p.His1415Asp
XM_011520332.1:c.4246C>G	XP_011518634.1:p.His1416Asp
XM_011520333.1:c.2743C>G	XP_011518635.1:p.His915Asp
XR_930890.1:n.4309C>G
NM_001351295.1:c.4309C>G	NP_001338224.1:p.His1437Asp
NM_001351296.1:c.4243C>G	NP_001338225.1:p.His1415Asp
NM_001351297.1:c.4240C>G	NP_001338226.1:p.His1414Asp
NR_147094.1:n.4538C>G
XM_017018197.2:c.4312C>G	XP_016873686.1:p.His1438Asp
XM_017018199.1:c.4309C>G	XP_016873688.1:p.His1437Asp
XM_017018201.2:c.4312C>G	XP_016873690.1:p.His1438Asp
XM_017018202.1:c.2809C>G	XP_016873691.1:p.His937Asp
XM_017018204.1:c.2200C>G	XP_016873693.1:p.His734Asp
XM_024448668.1:c.2611C>G	XP_024304436.1:p.His871Asp
XR_001747945.2:n.4384C>G
XR_001747946.2:n.4315C>G
XR_002957189.1:n.6098C>G
NM_000352.6:c.4243C>G MANE Select	NP_000343.2:p.His1415Asp
NM_001287174.2:c.4246C>G	NP_001274103.1:p.His1416Asp
NM_001351295.2:c.4309C>G	NP_001338224.1:p.His1437Asp
NM_001351296.2:c.4243C>G	NP_001338225.1:p.His1415Asp
NM_001351297.2:c.4240C>G	NP_001338226.1:p.His1414Asp
NR_147094.2:n.4538C>G
NM_001287174.3:c.4246C>G	NP_001274103.1:p.His1416Asp