Canonical Allele Identifier: CA379783033

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415860T>G (hg19) ; chr11:g.17394313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394313T>G , CM000673.2:g.17394313T>G	GRCh38
NC_000011.9:g.17415860T>G , CM000673.1:g.17415860T>G	GRCh37
NC_000011.8:g.17372436T>G	NCBI36
NG_008867.1:g.87590A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4099A>C
ENST00000526037.6:n.433A>C
ENST00000528374.2:c.1089A>C
ENST00000529967.6:n.2837A>C
ENST00000532220.2:n.3731A>C
ENST00000642611.2:n.5831A>C
ENST00000644057.2:n.1074A>C
ENST00000645004.2:n.1997A>C
ENST00000682051.1:n.4660A>C
ENST00000682110.1:n.4713A>C
ENST00000682140.1:c.*284A>C	ENSP00000507829.1:n.*284A>C
ENST00000682185.1:n.5803A>C
ENST00000682204.1:c.*2636A>C	ENSP00000507094.1:n.*2636A>C
ENST00000682215.1:n.5080A>C
ENST00000682288.1:c.*2929A>C	ENSP00000507506.1:n.*2929A>C
ENST00000682442.1:n.4933A>C
ENST00000682528.1:n.4790A>C
ENST00000682673.1:n.4657A>C
ENST00000682805.1:n.5118A>C
ENST00000682965.1:c.*920A>C	ENSP00000508229.1:n.*920A>C
ENST00000683093.1:n.5693A>C
ENST00000683136.1:c.4381A>C	ENSP00000507768.1:p.Ser1461Arg
ENST00000683153.1:n.4755A>C
ENST00000683365.1:n.4815A>C
ENST00000683377.1:n.4609A>C
ENST00000683456.1:c.*1635A>C	ENSP00000508318.1:n.*1635A>C
ENST00000683522.1:n.4795A>C
ENST00000683562.1:c.*2563A>C	ENSP00000508265.1:n.*2563A>C
ENST00000683693.1:n.6174A>C
ENST00000683725.1:c.4394A>C	ENSP00000507496.1:p.Gln1465Pro
ENST00000684010.1:n.4708A>C
ENST00000684014.1:n.685A>C
ENST00000684157.1:n.5698A>C
ENST00000684253.1:n.4616A>C
ENST00000684288.1:c.*2670A>C	ENSP00000507143.1:n.*2670A>C
ENST00000684313.1:n.4145A>C
ENST00000684332.1:n.4786A>C
ENST00000684371.1:n.4819A>C
ENST00000684404.1:n.5741A>C
ENST00000684442.1:n.4937A>C
ENST00000684555.1:c.*2710A>C	ENSP00000507705.1:n.*2710A>C
ENST00000684571.1:c.4339A>C	ENSP00000506935.1:p.Ser1447Arg
ENST00000684593.1:c.*4203A>C	ENSP00000507005.1:n.*4203A>C
ENST00000684711.1:c.*2894A>C	ENSP00000506841.1:n.*2894A>C
ENST00000302539.9:c.4501A>C	ENSP00000303960.4:p.Ser1501Arg
ENST00000389817.8:c.4498A>C MANE Select	ENSP00000374467.4:p.Ser1500Arg
ENST00000642271.1:c.4495A>C	ENSP00000493749.1:p.Ser1499Arg
ENST00000642579.1:c.2552A>C
ENST00000642611.1:n.5716A>C
ENST00000642902.1:c.4280A>C
ENST00000643260.1:c.4498A>C	ENSP00000494450.1:p.Ser1500Arg
ENST00000643562.1:c.*2620A>C	ENSP00000496124.1:n.*2620A>C
ENST00000643925.1:c.3138A>C
ENST00000644057.1:n.657A>C
ENST00000644484.1:c.*3884A>C	ENSP00000493558.1:n.*3884A>C
ENST00000644675.1:c.*2670A>C	ENSP00000494567.1:n.*2670A>C
ENST00000644757.1:c.*3203-1333A>C	ENSP00000495085.1:n.*3203-1333A>C
ENST00000644772.1:c.4564A>C	ENSP00000494321.1:p.Ser1522Arg
ENST00000645004.1:n.2191A>C
ENST00000645076.1:c.3593A>C
ENST00000645417.1:c.1686A>C
ENST00000645744.1:c.*4183A>C	ENSP00000494564.1:n.*4183A>C
ENST00000645760.1:c.4919A>C
ENST00000645884.1:c.*1781A>C	ENSP00000495516.1:n.*1781A>C
ENST00000646003.1:c.*2520A>C	ENSP00000495259.1:n.*2520A>C
ENST00000646207.1:c.*3335A>C	ENSP00000495025.1:n.*3335A>C
ENST00000646276.1:c.*3902A>C	ENSP00000496070.1:n.*3902A>C
ENST00000646592.1:c.3804A>C
ENST00000646902.1:c.4465A>C	ENSP00000494101.1:p.Ser1489Arg
ENST00000646993.1:c.*2936A>C	ENSP00000493720.1:n.*2936A>C
ENST00000647013.1:c.4504A>C	ENSP00000496741.1:n.4504A>C
ENST00000647015.1:c.4249A>C	ENSP00000495389.1:p.Ser1417Arg
ENST00000647086.1:c.*4084A>C	ENSP00000493677.1:n.*4084A>C
ENST00000647158.1:c.*2785A>C	ENSP00000495744.1:n.*2785A>C
ENST00000302539.8:c.4501A>C	ENSP00000303960.4:p.Ser1501Arg
ENST00000389817.7:c.4498A>C	ENSP00000374467.3:p.Ser1500Arg
ENST00000525022.1:n.393A>C
ENST00000526037.5:n.258A>C
ENST00000526168.5:c.286A>C
ENST00000531642.5:c.529A>C
NM_000352.4:c.4498A>C	NP_000343.2:p.Ser1500Arg
NM_001287174.1:c.4501A>C	NP_001274103.1:p.Ser1501Arg
XM_011520331.1:c.4498A>C	XP_011518633.1:p.Ser1500Arg
XM_011520332.1:c.4397A>C	XP_011518634.1:p.Gln1466Pro
XM_011520333.1:c.2998A>C	XP_011518635.1:p.Ser1000Arg
XR_930890.1:n.4460A>C
NM_001351295.1:c.4564A>C	NP_001338224.1:p.Ser1522Arg
NM_001351296.1:c.4498A>C	NP_001338225.1:p.Ser1500Arg
NM_001351297.1:c.4495A>C	NP_001338226.1:p.Ser1499Arg
NR_147094.1:n.4793A>C
XM_017018197.2:c.4567A>C	XP_016873686.1:p.Ser1523Arg
XM_017018199.1:c.4564A>C	XP_016873688.1:p.Ser1522Arg
XM_017018201.2:c.4463A>C	XP_016873690.1:p.Gln1488Pro
XM_017018202.1:c.3064A>C	XP_016873691.1:p.Ser1022Arg
XM_017018204.1:c.2455A>C	XP_016873693.1:p.Ser819Arg
XM_024448668.1:c.2866A>C	XP_024304436.1:p.Ser956Arg
XR_001747945.2:n.4535A>C
XR_001747946.2:n.4466A>C
XR_002957189.1:n.6249A>C
NM_000352.6:c.4498A>C MANE Select	NP_000343.2:p.Ser1500Arg
NM_001287174.2:c.4501A>C	NP_001274103.1:p.Ser1501Arg
NM_001351295.2:c.4564A>C	NP_001338224.1:p.Ser1522Arg
NM_001351296.2:c.4498A>C	NP_001338225.1:p.Ser1500Arg
NM_001351297.2:c.4495A>C	NP_001338226.1:p.Ser1499Arg
NR_147094.2:n.4793A>C
NM_001287174.3:c.4501A>C	NP_001274103.1:p.Ser1501Arg