Canonical Allele Identifier: CA379788134

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417438A>C (hg19) ; chr11:g.17395891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395891A>C , CM000673.2:g.17395891A>C	GRCh38
NC_000011.9:g.17417438A>C , CM000673.1:g.17417438A>C	GRCh37
NC_000011.8:g.17374014A>C	NCBI36
NG_008867.1:g.86012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3760T>G
ENST00000528374.2:c.750T>G
ENST00000529967.6:n.2498T>G
ENST00000532220.2:n.3392T>G
ENST00000642611.2:n.5359T>G
ENST00000644057.2:n.602T>G
ENST00000645004.2:n.1658T>G
ENST00000682051.1:n.4321T>G
ENST00000682110.1:n.4374T>G
ENST00000682140.1:c.4025T>G	ENSP00000507829.1:p.Leu1342Arg
ENST00000682185.1:n.5464T>G
ENST00000682204.1:c.*2297T>G	ENSP00000507094.1:n.*2297T>G
ENST00000682215.1:n.4741T>G
ENST00000682288.1:c.*2590T>G	ENSP00000507506.1:n.*2590T>G
ENST00000682442.1:n.4594T>G
ENST00000682528.1:n.4451T>G
ENST00000682673.1:n.4318T>G
ENST00000682805.1:n.4779T>G
ENST00000682965.1:c.*581T>G	ENSP00000508229.1:n.*581T>G
ENST00000683093.1:n.5458T>G
ENST00000683136.1:c.4042T>G	ENSP00000507768.1:p.Phe1348Val
ENST00000683153.1:n.4416T>G
ENST00000683365.1:n.4476T>G
ENST00000683377.1:n.4374T>G
ENST00000683456.1:c.*1296T>G	ENSP00000508318.1:n.*1296T>G
ENST00000683522.1:n.4374T>G
ENST00000683562.1:c.*2328T>G	ENSP00000508265.1:n.*2328T>G
ENST00000683693.1:n.5806T>G
ENST00000683725.1:c.4159T>G	ENSP00000507496.1:p.Phe1387Val
ENST00000684010.1:n.4369T>G
ENST00000684157.1:n.5359T>G
ENST00000684253.1:n.4277T>G
ENST00000684288.1:c.*2331T>G	ENSP00000507143.1:n.*2331T>G
ENST00000684313.1:n.3806T>G
ENST00000684332.1:n.4447T>G
ENST00000684371.1:n.4480T>G
ENST00000684404.1:n.5402T>G
ENST00000684442.1:n.4598T>G
ENST00000684555.1:c.*2371T>G	ENSP00000507705.1:n.*2371T>G
ENST00000684571.1:c.4000T>G	ENSP00000506935.1:p.Phe1334Val
ENST00000684593.1:c.*3864T>G	ENSP00000507005.1:n.*3864T>G
ENST00000684711.1:c.*2555T>G	ENSP00000506841.1:n.*2555T>G
ENST00000302539.9:c.4162T>G	ENSP00000303960.4:p.Phe1388Val
ENST00000389817.8:c.4159T>G MANE Select	ENSP00000374467.4:p.Phe1387Val
ENST00000642271.1:c.4156T>G	ENSP00000493749.1:p.Phe1386Val
ENST00000642579.1:c.2213T>G
ENST00000642611.1:n.5244T>G
ENST00000642902.1:c.3941T>G
ENST00000643260.1:c.4159T>G	ENSP00000494450.1:p.Phe1387Val
ENST00000643562.1:c.*2281T>G	ENSP00000496124.1:n.*2281T>G
ENST00000643925.1:c.2799T>G
ENST00000644057.1:n.236T>G
ENST00000644484.1:c.*3545T>G	ENSP00000493558.1:n.*3545T>G
ENST00000644675.1:c.*2331T>G	ENSP00000494567.1:n.*2331T>G
ENST00000644757.1:c.*3202+373T>G	ENSP00000495085.1:n.*3202+373T>G
ENST00000644772.1:c.4225T>G	ENSP00000494321.1:p.Phe1409Val
ENST00000645004.1:n.1852T>G
ENST00000645076.1:c.3358T>G
ENST00000645417.1:c.1347T>G
ENST00000645744.1:c.*3924T>G	ENSP00000494564.1:n.*3924T>G
ENST00000645760.1:c.4580T>G
ENST00000645884.1:c.*1442T>G	ENSP00000495516.1:n.*1442T>G
ENST00000646003.1:c.*2261T>G	ENSP00000495259.1:n.*2261T>G
ENST00000646207.1:c.*2996T>G	ENSP00000495025.1:n.*2996T>G
ENST00000646276.1:c.*3563T>G	ENSP00000496070.1:n.*3563T>G
ENST00000646592.1:c.3465T>G
ENST00000646902.1:c.4126T>G	ENSP00000494101.1:p.Phe1376Val
ENST00000646993.1:c.*2701T>G	ENSP00000493720.1:n.*2701T>G
ENST00000647013.1:c.4165T>G	ENSP00000496741.1:n.4165T>G
ENST00000647015.1:c.3910T>G	ENSP00000495389.1:p.Phe1304Val
ENST00000647086.1:c.*3745T>G	ENSP00000493677.1:n.*3745T>G
ENST00000647158.1:c.*2446T>G	ENSP00000495744.1:n.*2446T>G
ENST00000302539.8:c.4162T>G	ENSP00000303960.4:p.Phe1388Val
ENST00000389817.7:c.4159T>G	ENSP00000374467.3:p.Phe1387Val
ENST00000525022.1:n.25T>G
ENST00000526168.5:c.27T>G
NM_000352.4:c.4159T>G	NP_000343.2:p.Phe1387Val
NM_001287174.1:c.4162T>G	NP_001274103.1:p.Phe1388Val
XM_011520331.1:c.4159T>G	XP_011518633.1:p.Phe1387Val
XM_011520332.1:c.4162T>G	XP_011518634.1:p.Phe1388Val
XM_011520333.1:c.2659T>G	XP_011518635.1:p.Phe887Val
XR_930890.1:n.4225T>G
NM_001351295.1:c.4225T>G	NP_001338224.1:p.Phe1409Val
NM_001351296.1:c.4159T>G	NP_001338225.1:p.Phe1387Val
NM_001351297.1:c.4156T>G	NP_001338226.1:p.Phe1386Val
NR_147094.1:n.4454T>G
XM_017018197.2:c.4228T>G	XP_016873686.1:p.Phe1410Val
XM_017018199.1:c.4225T>G	XP_016873688.1:p.Phe1409Val
XM_017018201.2:c.4228T>G	XP_016873690.1:p.Phe1410Val
XM_017018202.1:c.2725T>G	XP_016873691.1:p.Phe909Val
XM_017018204.1:c.2116T>G	XP_016873693.1:p.Phe706Val
XM_024448668.1:c.2527T>G	XP_024304436.1:p.Phe843Val
XR_001747945.2:n.4300T>G
XR_001747946.2:n.4231T>G
XR_002957189.1:n.5881T>G
NM_000352.6:c.4159T>G MANE Select	NP_000343.2:p.Phe1387Val
NM_001287174.2:c.4162T>G	NP_001274103.1:p.Phe1388Val
NM_001351295.2:c.4225T>G	NP_001338224.1:p.Phe1409Val
NM_001351296.2:c.4159T>G	NP_001338225.1:p.Phe1387Val
NM_001351297.2:c.4156T>G	NP_001338226.1:p.Phe1386Val
NR_147094.2:n.4454T>G
NM_001287174.3:c.4162T>G	NP_001274103.1:p.Phe1388Val