Canonical Allele Identifier: CA501161

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415875A>G (hg19) ; chr11:g.17394328A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394328A>G , CM000673.2:g.17394328A>G	GRCh38
NC_000011.9:g.17415875A>G , CM000673.1:g.17415875A>G	GRCh37
NC_000011.8:g.17372451A>G	NCBI36
NG_008867.1:g.87575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4084T>C
ENST00000526037.6:n.418T>C
ENST00000528374.2:c.1074T>C
ENST00000529967.6:n.2822T>C
ENST00000532220.2:n.3716T>C
ENST00000642611.2:n.5816T>C
ENST00000644057.2:n.1059T>C
ENST00000645004.2:n.1982T>C
ENST00000682051.1:n.4645T>C
ENST00000682110.1:n.4698T>C
ENST00000682140.1:c.*269T>C	ENSP00000507829.1:n.*269T>C
ENST00000682185.1:n.5788T>C
ENST00000682204.1:c.*2621T>C	ENSP00000507094.1:n.*2621T>C
ENST00000682215.1:n.5065T>C
ENST00000682288.1:c.*2914T>C	ENSP00000507506.1:n.*2914T>C
ENST00000682442.1:n.4918T>C
ENST00000682528.1:n.4775T>C
ENST00000682673.1:n.4642T>C
ENST00000682805.1:n.5103T>C
ENST00000682965.1:c.*905T>C	ENSP00000508229.1:n.*905T>C
ENST00000683093.1:n.5678T>C
ENST00000683136.1:c.4366T>C	ENSP00000507768.1:p.Phe1456Leu
ENST00000683153.1:n.4740T>C
ENST00000683365.1:n.4800T>C
ENST00000683377.1:n.4594T>C
ENST00000683456.1:c.*1620T>C	ENSP00000508318.1:n.*1620T>C
ENST00000683522.1:n.4780T>C
ENST00000683562.1:c.*2548T>C	ENSP00000508265.1:n.*2548T>C
ENST00000683693.1:n.6159T>C
ENST00000683725.1:c.4379T>C	ENSP00000507496.1:p.Leu1460Pro
ENST00000684010.1:n.4693T>C
ENST00000684014.1:n.670T>C
ENST00000684157.1:n.5683T>C
ENST00000684253.1:n.4601T>C
ENST00000684288.1:c.*2655T>C	ENSP00000507143.1:n.*2655T>C
ENST00000684313.1:n.4130T>C
ENST00000684332.1:n.4771T>C
ENST00000684371.1:n.4804T>C
ENST00000684404.1:n.5726T>C
ENST00000684442.1:n.4922T>C
ENST00000684555.1:c.*2695T>C	ENSP00000507705.1:n.*2695T>C
ENST00000684571.1:c.4324T>C	ENSP00000506935.1:p.Phe1442Leu
ENST00000684593.1:c.*4188T>C	ENSP00000507005.1:n.*4188T>C
ENST00000684711.1:c.*2879T>C	ENSP00000506841.1:n.*2879T>C
ENST00000302539.9:c.4486T>C	ENSP00000303960.4:p.Phe1496Leu
ENST00000389817.8:c.4483T>C MANE Select	ENSP00000374467.4:p.Phe1495Leu
ENST00000642271.1:c.4480T>C	ENSP00000493749.1:p.Phe1494Leu
ENST00000642579.1:c.2537T>C
ENST00000642611.1:n.5701T>C
ENST00000642902.1:c.4265T>C
ENST00000643260.1:c.4483T>C	ENSP00000494450.1:p.Phe1495Leu
ENST00000643562.1:c.*2605T>C	ENSP00000496124.1:n.*2605T>C
ENST00000643925.1:c.3123T>C
ENST00000644057.1:n.642T>C
ENST00000644484.1:c.*3869T>C	ENSP00000493558.1:n.*3869T>C
ENST00000644675.1:c.*2655T>C	ENSP00000494567.1:n.*2655T>C
ENST00000644757.1:c.*3203-1348T>C	ENSP00000495085.1:n.*3203-1348T>C
ENST00000644772.1:c.4549T>C	ENSP00000494321.1:p.Phe1517Leu
ENST00000645004.1:n.2176T>C
ENST00000645076.1:c.3578T>C
ENST00000645417.1:c.1671T>C
ENST00000645744.1:c.*4168T>C	ENSP00000494564.1:n.*4168T>C
ENST00000645760.1:c.4904T>C
ENST00000645884.1:c.*1766T>C	ENSP00000495516.1:n.*1766T>C
ENST00000646003.1:c.*2505T>C	ENSP00000495259.1:n.*2505T>C
ENST00000646207.1:c.*3320T>C	ENSP00000495025.1:n.*3320T>C
ENST00000646276.1:c.*3887T>C	ENSP00000496070.1:n.*3887T>C
ENST00000646592.1:c.3789T>C
ENST00000646902.1:c.4450T>C	ENSP00000494101.1:p.Phe1484Leu
ENST00000646993.1:c.*2921T>C	ENSP00000493720.1:n.*2921T>C
ENST00000647013.1:c.4489T>C	ENSP00000496741.1:n.4489T>C
ENST00000647015.1:c.4234T>C	ENSP00000495389.1:p.Phe1412Leu
ENST00000647086.1:c.*4069T>C	ENSP00000493677.1:n.*4069T>C
ENST00000647158.1:c.*2770T>C	ENSP00000495744.1:n.*2770T>C
ENST00000302539.8:c.4486T>C	ENSP00000303960.4:p.Phe1496Leu
ENST00000389817.7:c.4483T>C	ENSP00000374467.3:p.Phe1495Leu
ENST00000525022.1:n.378T>C
ENST00000526037.5:n.243T>C
ENST00000526168.5:c.271T>C
ENST00000531642.5:c.514T>C
NM_000352.4:c.4483T>C	NP_000343.2:p.Phe1495Leu
NM_001287174.1:c.4486T>C	NP_001274103.1:p.Phe1496Leu
XM_011520331.1:c.4483T>C	XP_011518633.1:p.Phe1495Leu
XM_011520332.1:c.4382T>C	XP_011518634.1:p.Leu1461Pro
XM_011520333.1:c.2983T>C	XP_011518635.1:p.Phe995Leu
XR_930890.1:n.4445T>C
NM_001351295.1:c.4549T>C	NP_001338224.1:p.Phe1517Leu
NM_001351296.1:c.4483T>C	NP_001338225.1:p.Phe1495Leu
NM_001351297.1:c.4480T>C	NP_001338226.1:p.Phe1494Leu
NR_147094.1:n.4778T>C
XM_017018197.2:c.4552T>C	XP_016873686.1:p.Phe1518Leu
XM_017018199.1:c.4549T>C	XP_016873688.1:p.Phe1517Leu
XM_017018201.2:c.4448T>C	XP_016873690.1:p.Leu1483Pro
XM_017018202.1:c.3049T>C	XP_016873691.1:p.Phe1017Leu
XM_017018204.1:c.2440T>C	XP_016873693.1:p.Phe814Leu
XM_024448668.1:c.2851T>C	XP_024304436.1:p.Phe951Leu
XR_001747945.2:n.4520T>C
XR_001747946.2:n.4451T>C
XR_002957189.1:n.6234T>C
NM_000352.6:c.4483T>C MANE Select	NP_000343.2:p.Phe1495Leu
NM_001287174.2:c.4486T>C	NP_001274103.1:p.Phe1496Leu
NM_001351295.2:c.4549T>C	NP_001338224.1:p.Phe1517Leu
NM_001351296.2:c.4483T>C	NP_001338225.1:p.Phe1495Leu
NM_001351297.2:c.4480T>C	NP_001338226.1:p.Phe1494Leu
NR_147094.2:n.4778T>C
NM_001287174.3:c.4486T>C	NP_001274103.1:p.Phe1496Leu