Canonical Allele Identifier: CA379786820

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395674-G-A
• MyVariant Identifiers: chr11:g.17417221G>A (hg19) ; chr11:g.17395674G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3844C>T
ENST00000528374.2:c.834C>T
ENST00000529967.6:n.2582C>T
ENST00000532220.2:n.3476C>T
ENST00000642611.2:n.5576C>T
ENST00000644057.2:n.819C>T
ENST00000645004.2:n.1742C>T
ENST00000682051.1:n.4405C>T
ENST00000682110.1:n.4458C>T
ENST00000682140.1:c.*29C>T	ENSP00000507829.1:n.*29C>T
ENST00000682185.1:n.5548C>T
ENST00000682204.1:c.*2381C>T	ENSP00000507094.1:n.*2381C>T
ENST00000682215.1:n.4825C>T
ENST00000682288.1:c.*2674C>T	ENSP00000507506.1:n.*2674C>T
ENST00000682442.1:n.4678C>T
ENST00000682528.1:n.4535C>T
ENST00000682673.1:n.4402C>T
ENST00000682805.1:n.4863C>T
ENST00000682965.1:c.*665C>T	ENSP00000508229.1:n.*665C>T
ENST00000683093.1:n.5542C>T
ENST00000683136.1:c.4126C>T	ENSP00000507768.1:p.His1376Tyr
ENST00000683153.1:n.4500C>T
ENST00000683365.1:n.4560C>T
ENST00000683377.1:n.4458C>T
ENST00000683456.1:c.*1380C>T	ENSP00000508318.1:n.*1380C>T
ENST00000683522.1:n.4458C>T
ENST00000683562.1:c.*2412C>T	ENSP00000508265.1:n.*2412C>T
ENST00000683693.1:n.6023C>T
ENST00000683725.1:c.4243C>T	ENSP00000507496.1:p.His1415Tyr
ENST00000684010.1:n.4453C>T
ENST00000684157.1:n.5443C>T
ENST00000684253.1:n.4361C>T
ENST00000684288.1:c.*2415C>T	ENSP00000507143.1:n.*2415C>T
ENST00000684313.1:n.3890C>T
ENST00000684332.1:n.4531C>T
ENST00000684371.1:n.4564C>T
ENST00000684404.1:n.5486C>T
ENST00000684442.1:n.4682C>T
ENST00000684555.1:c.*2455C>T	ENSP00000507705.1:n.*2455C>T
ENST00000684571.1:c.4084C>T	ENSP00000506935.1:p.His1362Tyr
ENST00000684593.1:c.*3948C>T	ENSP00000507005.1:n.*3948C>T
ENST00000684711.1:c.*2639C>T	ENSP00000506841.1:n.*2639C>T
ENST00000302539.9:c.4246C>T	ENSP00000303960.4:p.His1416Tyr
ENST00000389817.8:c.4243C>T MANE Select	ENSP00000374467.4:p.His1415Tyr
ENST00000642271.1:c.4240C>T	ENSP00000493749.1:p.His1414Tyr
ENST00000642579.1:c.2297C>T
ENST00000642611.1:n.5461C>T
ENST00000642902.1:c.4025C>T
ENST00000643260.1:c.4243C>T	ENSP00000494450.1:p.His1415Tyr
ENST00000643562.1:c.*2365C>T	ENSP00000496124.1:n.*2365C>T
ENST00000643925.1:c.2883C>T
ENST00000644057.1:n.320C>T
ENST00000644484.1:c.*3629C>T	ENSP00000493558.1:n.*3629C>T
ENST00000644675.1:c.*2415C>T	ENSP00000494567.1:n.*2415C>T
ENST00000644757.1:c.*3202+590C>T	ENSP00000495085.1:n.*3202+590C>T
ENST00000644772.1:c.4309C>T	ENSP00000494321.1:p.His1437Tyr
ENST00000645004.1:n.1936C>T
ENST00000645076.1:c.3442C>T
ENST00000645417.1:c.1431C>T
ENST00000645744.1:c.*3964-36C>T	ENSP00000494564.1:n.*3964-36C>T
ENST00000645760.1:c.4664C>T
ENST00000645884.1:c.*1526C>T	ENSP00000495516.1:n.*1526C>T
ENST00000646003.1:c.*2301-36C>T	ENSP00000495259.1:n.*2301-36C>T
ENST00000646207.1:c.*3080C>T	ENSP00000495025.1:n.*3080C>T
ENST00000646276.1:c.*3647C>T	ENSP00000496070.1:n.*3647C>T
ENST00000646592.1:c.3549C>T
ENST00000646902.1:c.4210C>T	ENSP00000494101.1:p.His1404Tyr
ENST00000646993.1:c.*2785C>T	ENSP00000493720.1:n.*2785C>T
ENST00000647013.1:c.4249C>T	ENSP00000496741.1:n.4249C>T
ENST00000647015.1:c.3994C>T	ENSP00000495389.1:p.His1332Tyr
ENST00000647086.1:c.*3829C>T	ENSP00000493677.1:n.*3829C>T
ENST00000647158.1:c.*2530C>T	ENSP00000495744.1:n.*2530C>T
ENST00000302539.8:c.4246C>T	ENSP00000303960.4:p.His1416Tyr
ENST00000389817.7:c.4243C>T	ENSP00000374467.3:p.His1415Tyr
ENST00000525022.1:n.242C>T
ENST00000526037.5:n.107C>T
ENST00000526168.5:c.67-36C>T
ENST00000531642.5:c.79C>T
NM_000352.4:c.4243C>T	NP_000343.2:p.His1415Tyr
NM_001287174.1:c.4246C>T	NP_001274103.1:p.His1416Tyr
XM_011520331.1:c.4243C>T	XP_011518633.1:p.His1415Tyr
XM_011520332.1:c.4246C>T	XP_011518634.1:p.His1416Tyr
XM_011520333.1:c.2743C>T	XP_011518635.1:p.His915Tyr
XR_930890.1:n.4309C>T
NM_001351295.1:c.4309C>T	NP_001338224.1:p.His1437Tyr
NM_001351296.1:c.4243C>T	NP_001338225.1:p.His1415Tyr
NM_001351297.1:c.4240C>T	NP_001338226.1:p.His1414Tyr
NR_147094.1:n.4538C>T
XM_017018197.2:c.4312C>T	XP_016873686.1:p.His1438Tyr
XM_017018199.1:c.4309C>T	XP_016873688.1:p.His1437Tyr
XM_017018201.2:c.4312C>T	XP_016873690.1:p.His1438Tyr
XM_017018202.1:c.2809C>T	XP_016873691.1:p.His937Tyr
XM_017018204.1:c.2200C>T	XP_016873693.1:p.His734Tyr
XM_024448668.1:c.2611C>T	XP_024304436.1:p.His871Tyr
XR_001747945.2:n.4384C>T
XR_001747946.2:n.4315C>T
XR_002957189.1:n.6098C>T
NM_000352.6:c.4243C>T MANE Select	NP_000343.2:p.His1415Tyr
NM_001287174.2:c.4246C>T	NP_001274103.1:p.His1416Tyr
NM_001351295.2:c.4309C>T	NP_001338224.1:p.His1437Tyr
NM_001351296.2:c.4243C>T	NP_001338225.1:p.His1415Tyr
NM_001351297.2:c.4240C>T	NP_001338226.1:p.His1414Tyr
NR_147094.2:n.4538C>T
NM_001287174.3:c.4246C>T	NP_001274103.1:p.His1416Tyr