Canonical Allele Identifier: CA473298287

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395877-G-A
• MyVariant Identifiers: chr11:g.17417424G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395877G>A , CM000673.2:g.17395877G>A	GRCh38
NC_000011.9:g.17417424G>A , CM000673.1:g.17417424G>A	GRCh37
NC_000011.8:g.17374000G>A	NCBI36
NG_008867.1:g.86026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3774C>T
ENST00000528374.2:c.764C>T
ENST00000529967.6:n.2512C>T
ENST00000532220.2:n.3406C>T
ENST00000642611.2:n.5373C>T
ENST00000644057.2:n.616C>T
ENST00000645004.2:n.1672C>T
ENST00000682051.1:n.4335C>T
ENST00000682110.1:n.4388C>T
ENST00000682140.1:c.4039C>T	ENSP00000507829.1:p.Leu1347Phe
ENST00000682185.1:n.5478C>T
ENST00000682204.1:c.*2311C>T	ENSP00000507094.1:n.*2311C>T
ENST00000682215.1:n.4755C>T
ENST00000682288.1:c.*2604C>T	ENSP00000507506.1:n.*2604C>T
ENST00000682442.1:n.4608C>T
ENST00000682528.1:n.4465C>T
ENST00000682673.1:n.4332C>T
ENST00000682805.1:n.4793C>T
ENST00000682965.1:c.*595C>T	ENSP00000508229.1:n.*595C>T
ENST00000683093.1:n.5472C>T
ENST00000683136.1:c.4056C>T	ENSP00000507768.1:p.Phe1352=
ENST00000683153.1:n.4430C>T
ENST00000683365.1:n.4490C>T
ENST00000683377.1:n.4388C>T
ENST00000683456.1:c.*1310C>T	ENSP00000508318.1:n.*1310C>T
ENST00000683522.1:n.4388C>T
ENST00000683562.1:c.*2342C>T	ENSP00000508265.1:n.*2342C>T
ENST00000683693.1:n.5820C>T
ENST00000683725.1:c.4173C>T	ENSP00000507496.1:p.Phe1391=
ENST00000684010.1:n.4383C>T
ENST00000684157.1:n.5373C>T
ENST00000684253.1:n.4291C>T
ENST00000684288.1:c.*2345C>T	ENSP00000507143.1:n.*2345C>T
ENST00000684313.1:n.3820C>T
ENST00000684332.1:n.4461C>T
ENST00000684371.1:n.4494C>T
ENST00000684404.1:n.5416C>T
ENST00000684442.1:n.4612C>T
ENST00000684555.1:c.*2385C>T	ENSP00000507705.1:n.*2385C>T
ENST00000684571.1:c.4014C>T	ENSP00000506935.1:p.Phe1338=
ENST00000684593.1:c.*3878C>T	ENSP00000507005.1:n.*3878C>T
ENST00000684711.1:c.*2569C>T	ENSP00000506841.1:n.*2569C>T
ENST00000302539.9:c.4176C>T	ENSP00000303960.4:p.Phe1392=
ENST00000389817.8:c.4173C>T MANE Select	ENSP00000374467.4:p.Phe1391=
ENST00000642271.1:c.4170C>T	ENSP00000493749.1:p.Phe1390=
ENST00000642579.1:c.2227C>T
ENST00000642611.1:n.5258C>T
ENST00000642902.1:c.3955C>T
ENST00000643260.1:c.4173C>T	ENSP00000494450.1:p.Phe1391=
ENST00000643562.1:c.*2295C>T	ENSP00000496124.1:n.*2295C>T
ENST00000643925.1:c.2813C>T
ENST00000644057.1:n.250C>T
ENST00000644484.1:c.*3559C>T	ENSP00000493558.1:n.*3559C>T
ENST00000644675.1:c.*2345C>T	ENSP00000494567.1:n.*2345C>T
ENST00000644757.1:c.*3202+387C>T	ENSP00000495085.1:n.*3202+387C>T
ENST00000644772.1:c.4239C>T	ENSP00000494321.1:p.Phe1413=
ENST00000645004.1:n.1866C>T
ENST00000645076.1:c.3372C>T
ENST00000645417.1:c.1361C>T
ENST00000645744.1:c.*3938C>T	ENSP00000494564.1:n.*3938C>T
ENST00000645760.1:c.4594C>T
ENST00000645884.1:c.*1456C>T	ENSP00000495516.1:n.*1456C>T
ENST00000646003.1:c.*2275C>T	ENSP00000495259.1:n.*2275C>T
ENST00000646207.1:c.*3010C>T	ENSP00000495025.1:n.*3010C>T
ENST00000646276.1:c.*3577C>T	ENSP00000496070.1:n.*3577C>T
ENST00000646592.1:c.3479C>T
ENST00000646902.1:c.4140C>T	ENSP00000494101.1:p.Phe1380=
ENST00000646993.1:c.*2715C>T	ENSP00000493720.1:n.*2715C>T
ENST00000647013.1:c.4179C>T	ENSP00000496741.1:n.4179C>T
ENST00000647015.1:c.3924C>T	ENSP00000495389.1:p.Phe1308=
ENST00000647086.1:c.*3759C>T	ENSP00000493677.1:n.*3759C>T
ENST00000647158.1:c.*2460C>T	ENSP00000495744.1:n.*2460C>T
ENST00000302539.8:c.4176C>T	ENSP00000303960.4:p.Phe1392=
ENST00000389817.7:c.4173C>T	ENSP00000374467.3:p.Phe1391=
ENST00000525022.1:n.39C>T
ENST00000526168.5:c.41C>T
ENST00000531642.5:c.9C>T
NM_000352.4:c.4173C>T	NP_000343.2:p.Phe1391=
NM_001287174.1:c.4176C>T	NP_001274103.1:p.Phe1392=
XM_011520331.1:c.4173C>T	XP_011518633.1:p.Phe1391=
XM_011520332.1:c.4176C>T	XP_011518634.1:p.Phe1392=
XM_011520333.1:c.2673C>T	XP_011518635.1:p.Phe891=
XR_930890.1:n.4239C>T
NM_001351295.1:c.4239C>T	NP_001338224.1:p.Phe1413=
NM_001351296.1:c.4173C>T	NP_001338225.1:p.Phe1391=
NM_001351297.1:c.4170C>T	NP_001338226.1:p.Phe1390=
NR_147094.1:n.4468C>T
XM_017018197.2:c.4242C>T	XP_016873686.1:p.Phe1414=
XM_017018199.1:c.4239C>T	XP_016873688.1:p.Phe1413=
XM_017018201.2:c.4242C>T	XP_016873690.1:p.Phe1414=
XM_017018202.1:c.2739C>T	XP_016873691.1:p.Phe913=
XM_017018204.1:c.2130C>T	XP_016873693.1:p.Phe710=
XM_024448668.1:c.2541C>T	XP_024304436.1:p.Phe847=
XR_001747945.2:n.4314C>T
XR_001747946.2:n.4245C>T
XR_002957189.1:n.5895C>T
NM_000352.6:c.4173C>T MANE Select	NP_000343.2:p.Phe1391=
NM_001287174.2:c.4176C>T	NP_001274103.1:p.Phe1392=
NM_001351295.2:c.4239C>T	NP_001338224.1:p.Phe1413=
NM_001351296.2:c.4173C>T	NP_001338225.1:p.Phe1391=
NM_001351297.2:c.4170C>T	NP_001338226.1:p.Phe1390=
NR_147094.2:n.4468C>T
NM_001287174.3:c.4176C>T	NP_001274103.1:p.Phe1392=