Canonical Allele Identifier: CA379782150

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415291T>G (hg19) ; chr11:g.17393744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393744T>G , CM000673.2:g.17393744T>G	GRCh38
NC_000011.9:g.17415291T>G , CM000673.1:g.17415291T>G	GRCh37
NC_000011.8:g.17371867T>G	NCBI36
NG_008867.1:g.88159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4162A>C
ENST00000526037.6:n.496A>C
ENST00000528374.2:c.1152A>C
ENST00000529967.6:n.2900A>C
ENST00000532220.2:n.3794A>C
ENST00000642611.2:n.5894A>C
ENST00000644057.2:n.1137A>C
ENST00000645004.2:n.2060A>C
ENST00000682051.1:n.4723A>C
ENST00000682110.1:n.4776A>C
ENST00000682140.1:c.*347A>C	ENSP00000507829.1:n.*347A>C
ENST00000682185.1:n.5866A>C
ENST00000682204.1:c.*2699A>C	ENSP00000507094.1:n.*2699A>C
ENST00000682215.1:n.5143A>C
ENST00000682288.1:c.*2992A>C	ENSP00000507506.1:n.*2992A>C
ENST00000682442.1:n.4996A>C
ENST00000682528.1:n.4853A>C
ENST00000682673.1:n.4720A>C
ENST00000682805.1:n.5181A>C
ENST00000682965.1:c.*983A>C	ENSP00000508229.1:n.*983A>C
ENST00000683093.1:n.5756A>C
ENST00000683136.1:c.4444A>C	ENSP00000507768.1:p.Lys1482Gln
ENST00000683153.1:n.4818A>C
ENST00000683365.1:n.4878A>C
ENST00000683377.1:n.4672A>C
ENST00000683456.1:c.*1698A>C	ENSP00000508318.1:n.*1698A>C
ENST00000683522.1:n.4858A>C
ENST00000683562.1:c.*2626A>C	ENSP00000508265.1:n.*2626A>C
ENST00000683693.1:n.6237A>C
ENST00000683725.1:c.*26A>C	ENSP00000507496.1:n.*26A>C
ENST00000684010.1:n.4771A>C
ENST00000684014.1:n.748A>C
ENST00000684157.1:n.5761A>C
ENST00000684253.1:n.4679A>C
ENST00000684288.1:c.*2733A>C	ENSP00000507143.1:n.*2733A>C
ENST00000684313.1:n.4208A>C
ENST00000684332.1:n.4849A>C
ENST00000684371.1:n.4882A>C
ENST00000684404.1:n.5804A>C
ENST00000684442.1:n.5000A>C
ENST00000684555.1:c.*2773A>C	ENSP00000507705.1:n.*2773A>C
ENST00000684571.1:c.4402A>C	ENSP00000506935.1:p.Lys1468Gln
ENST00000684593.1:c.*4266A>C	ENSP00000507005.1:n.*4266A>C
ENST00000684711.1:c.*2957A>C	ENSP00000506841.1:n.*2957A>C
ENST00000302539.9:c.4564A>C	ENSP00000303960.4:p.Lys1522Gln
ENST00000389817.8:c.4561A>C MANE Select	ENSP00000374467.4:p.Lys1521Gln
ENST00000642271.1:c.4558A>C	ENSP00000493749.1:p.Lys1520Gln
ENST00000642579.1:c.2615A>C
ENST00000642611.1:n.5779A>C
ENST00000642902.1:c.4343A>C
ENST00000643260.1:c.4561A>C	ENSP00000494450.1:p.Lys1521Gln
ENST00000643562.1:c.*2683A>C	ENSP00000496124.1:n.*2683A>C
ENST00000643925.1:c.3185+522A>C
ENST00000644057.1:n.720A>C
ENST00000644484.1:c.*3947A>C	ENSP00000493558.1:n.*3947A>C
ENST00000644675.1:c.*2733A>C	ENSP00000494567.1:n.*2733A>C
ENST00000644757.1:c.*3203-764A>C	ENSP00000495085.1:n.*3203-764A>C
ENST00000644772.1:c.4627A>C	ENSP00000494321.1:p.Lys1543Gln
ENST00000645004.1:n.2254A>C
ENST00000645076.1:c.3656A>C
ENST00000645417.1:c.1749A>C
ENST00000645744.1:c.*4246A>C	ENSP00000494564.1:n.*4246A>C
ENST00000645760.1:c.4982A>C
ENST00000645884.1:c.*1844A>C	ENSP00000495516.1:n.*1844A>C
ENST00000646003.1:c.*2583A>C	ENSP00000495259.1:n.*2583A>C
ENST00000646207.1:c.*3398A>C	ENSP00000495025.1:n.*3398A>C
ENST00000646276.1:c.*3965A>C	ENSP00000496070.1:n.*3965A>C
ENST00000646592.1:c.3867A>C
ENST00000646902.1:c.4528A>C	ENSP00000494101.1:p.Lys1510Gln
ENST00000646993.1:c.*2999A>C	ENSP00000493720.1:n.*2999A>C
ENST00000647015.1:c.4312A>C	ENSP00000495389.1:p.Lys1438Gln
ENST00000647086.1:c.*4147A>C	ENSP00000493677.1:n.*4147A>C
ENST00000647158.1:c.*2848A>C	ENSP00000495744.1:n.*2848A>C
ENST00000302539.8:c.4564A>C	ENSP00000303960.4:p.Lys1522Gln
ENST00000389817.7:c.4561A>C	ENSP00000374467.3:p.Lys1521Gln
ENST00000525022.1:n.456A>C
ENST00000526037.5:n.321A>C
ENST00000526168.5:c.349A>C
ENST00000531642.5:c.592A>C
NM_000352.4:c.4561A>C	NP_000343.2:p.Lys1521Gln
NM_001287174.1:c.4564A>C	NP_001274103.1:p.Lys1522Gln
XM_011520331.1:c.4561A>C	XP_011518633.1:p.Lys1521Gln
XM_011520333.1:c.3061A>C	XP_011518635.1:p.Lys1021Gln
XR_930890.1:n.4523A>C
NM_001351295.1:c.4627A>C	NP_001338224.1:p.Lys1543Gln
NM_001351296.1:c.4561A>C	NP_001338225.1:p.Lys1521Gln
NM_001351297.1:c.4558A>C	NP_001338226.1:p.Lys1520Gln
NR_147094.1:n.4856A>C
XM_017018197.2:c.4630A>C	XP_016873686.1:p.Lys1544Gln
XM_017018199.1:c.4627A>C	XP_016873688.1:p.Lys1543Gln
XM_017018202.1:c.3127A>C	XP_016873691.1:p.Lys1043Gln
XM_017018204.1:c.2518A>C	XP_016873693.1:p.Lys840Gln
XM_024448668.1:c.2929A>C	XP_024304436.1:p.Lys977Gln
XR_001747945.2:n.4598A>C
XR_001747946.2:n.4529A>C
XR_002957189.1:n.6312A>C
NM_000352.6:c.4561A>C MANE Select	NP_000343.2:p.Lys1521Gln
NM_001287174.2:c.4564A>C	NP_001274103.1:p.Lys1522Gln
NM_001351295.2:c.4627A>C	NP_001338224.1:p.Lys1543Gln
NM_001351296.2:c.4561A>C	NP_001338225.1:p.Lys1521Gln
NM_001351297.2:c.4558A>C	NP_001338226.1:p.Lys1520Gln
NR_147094.2:n.4856A>C
NM_001287174.3:c.4564A>C	NP_001274103.1:p.Lys1522Gln