Canonical Allele Identifier: CA379787493

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395716-G-A
• MyVariant Identifiers: chr11:g.17417263G>A (hg19) ; chr11:g.17395716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395716G>A , CM000673.2:g.17395716G>A	GRCh38
NC_000011.9:g.17417263G>A , CM000673.1:g.17417263G>A	GRCh37
NC_000011.8:g.17373839G>A	NCBI36
NG_008867.1:g.86187C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3802C>T
ENST00000528374.2:c.792C>T
ENST00000529967.6:n.2540C>T
ENST00000532220.2:n.3434C>T
ENST00000642611.2:n.5534C>T
ENST00000644057.2:n.777C>T
ENST00000645004.2:n.1700C>T
ENST00000682051.1:n.4363C>T
ENST00000682110.1:n.4416C>T
ENST00000682140.1:c.4067C>T	ENSP00000507829.1:p.Ala1356Val
ENST00000682185.1:n.5506C>T
ENST00000682204.1:c.*2339C>T	ENSP00000507094.1:n.*2339C>T
ENST00000682215.1:n.4783C>T
ENST00000682288.1:c.*2632C>T	ENSP00000507506.1:n.*2632C>T
ENST00000682442.1:n.4636C>T
ENST00000682528.1:n.4493C>T
ENST00000682673.1:n.4360C>T
ENST00000682805.1:n.4821C>T
ENST00000682965.1:c.*623C>T	ENSP00000508229.1:n.*623C>T
ENST00000683093.1:n.5500C>T
ENST00000683136.1:c.4084C>T	ENSP00000507768.1:p.His1362Tyr
ENST00000683153.1:n.4458C>T
ENST00000683365.1:n.4518C>T
ENST00000683377.1:n.4416C>T
ENST00000683456.1:c.*1338C>T	ENSP00000508318.1:n.*1338C>T
ENST00000683522.1:n.4416C>T
ENST00000683562.1:c.*2370C>T	ENSP00000508265.1:n.*2370C>T
ENST00000683693.1:n.5981C>T
ENST00000683725.1:c.4201C>T	ENSP00000507496.1:p.His1401Tyr
ENST00000684010.1:n.4411C>T
ENST00000684157.1:n.5401C>T
ENST00000684253.1:n.4319C>T
ENST00000684288.1:c.*2373C>T	ENSP00000507143.1:n.*2373C>T
ENST00000684313.1:n.3848C>T
ENST00000684332.1:n.4489C>T
ENST00000684371.1:n.4522C>T
ENST00000684404.1:n.5444C>T
ENST00000684442.1:n.4640C>T
ENST00000684555.1:c.*2413C>T	ENSP00000507705.1:n.*2413C>T
ENST00000684571.1:c.4042C>T	ENSP00000506935.1:p.His1348Tyr
ENST00000684593.1:c.*3906C>T	ENSP00000507005.1:n.*3906C>T
ENST00000684711.1:c.*2597C>T	ENSP00000506841.1:n.*2597C>T
ENST00000302539.9:c.4204C>T	ENSP00000303960.4:p.His1402Tyr
ENST00000389817.8:c.4201C>T MANE Select	ENSP00000374467.4:p.His1401Tyr
ENST00000642271.1:c.4198C>T	ENSP00000493749.1:p.His1400Tyr
ENST00000642579.1:c.2255C>T
ENST00000642611.1:n.5419C>T
ENST00000642902.1:c.3983C>T
ENST00000643260.1:c.4201C>T	ENSP00000494450.1:p.His1401Tyr
ENST00000643562.1:c.*2323C>T	ENSP00000496124.1:n.*2323C>T
ENST00000643925.1:c.2841C>T
ENST00000644057.1:n.278C>T
ENST00000644484.1:c.*3587C>T	ENSP00000493558.1:n.*3587C>T
ENST00000644675.1:c.*2373C>T	ENSP00000494567.1:n.*2373C>T
ENST00000644757.1:c.*3202+548C>T	ENSP00000495085.1:n.*3202+548C>T
ENST00000644772.1:c.4267C>T	ENSP00000494321.1:p.His1423Tyr
ENST00000645004.1:n.1894C>T
ENST00000645076.1:c.3400C>T
ENST00000645417.1:c.1389C>T
ENST00000645744.1:c.*3964-78C>T	ENSP00000494564.1:n.*3964-78C>T
ENST00000645760.1:c.4622C>T
ENST00000645884.1:c.*1484C>T	ENSP00000495516.1:n.*1484C>T
ENST00000646003.1:c.*2301-78C>T	ENSP00000495259.1:n.*2301-78C>T
ENST00000646207.1:c.*3038C>T	ENSP00000495025.1:n.*3038C>T
ENST00000646276.1:c.*3605C>T	ENSP00000496070.1:n.*3605C>T
ENST00000646592.1:c.3507C>T
ENST00000646902.1:c.4168C>T	ENSP00000494101.1:p.His1390Tyr
ENST00000646993.1:c.*2743C>T	ENSP00000493720.1:n.*2743C>T
ENST00000647013.1:c.4207C>T	ENSP00000496741.1:n.4207C>T
ENST00000647015.1:c.3952C>T	ENSP00000495389.1:p.His1318Tyr
ENST00000647086.1:c.*3787C>T	ENSP00000493677.1:n.*3787C>T
ENST00000647158.1:c.*2488C>T	ENSP00000495744.1:n.*2488C>T
ENST00000302539.8:c.4204C>T	ENSP00000303960.4:p.His1402Tyr
ENST00000389817.7:c.4201C>T	ENSP00000374467.3:p.His1401Tyr
ENST00000525022.1:n.200C>T
ENST00000526037.5:n.65C>T
ENST00000526168.5:c.67-78C>T
ENST00000531642.5:c.37C>T
NM_000352.4:c.4201C>T	NP_000343.2:p.His1401Tyr
NM_001287174.1:c.4204C>T	NP_001274103.1:p.His1402Tyr
XM_011520331.1:c.4201C>T	XP_011518633.1:p.His1401Tyr
XM_011520332.1:c.4204C>T	XP_011518634.1:p.His1402Tyr
XM_011520333.1:c.2701C>T	XP_011518635.1:p.His901Tyr
XR_930890.1:n.4267C>T
NM_001351295.1:c.4267C>T	NP_001338224.1:p.His1423Tyr
NM_001351296.1:c.4201C>T	NP_001338225.1:p.His1401Tyr
NM_001351297.1:c.4198C>T	NP_001338226.1:p.His1400Tyr
NR_147094.1:n.4496C>T
XM_017018197.2:c.4270C>T	XP_016873686.1:p.His1424Tyr
XM_017018199.1:c.4267C>T	XP_016873688.1:p.His1423Tyr
XM_017018201.2:c.4270C>T	XP_016873690.1:p.His1424Tyr
XM_017018202.1:c.2767C>T	XP_016873691.1:p.His923Tyr
XM_017018204.1:c.2158C>T	XP_016873693.1:p.His720Tyr
XM_024448668.1:c.2569C>T	XP_024304436.1:p.His857Tyr
XR_001747945.2:n.4342C>T
XR_001747946.2:n.4273C>T
XR_002957189.1:n.6056C>T
NM_000352.6:c.4201C>T MANE Select	NP_000343.2:p.His1401Tyr
NM_001287174.2:c.4204C>T	NP_001274103.1:p.His1402Tyr
NM_001351295.2:c.4267C>T	NP_001338224.1:p.His1423Tyr
NM_001351296.2:c.4201C>T	NP_001338225.1:p.His1401Tyr
NM_001351297.2:c.4198C>T	NP_001338226.1:p.His1400Tyr
NR_147094.2:n.4496C>T
NM_001287174.3:c.4204C>T	NP_001274103.1:p.His1402Tyr