Canonical Allele Identifier: CA5902382
Community Standard Title: NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393047T>C , CM000673.2:g.17393047T>C GRCh38
NC_000011.9:g.17414594T>C , CM000673.1:g.17414594T>C GRCh37
NC_000011.8:g.17371170T>C NCBI36
NG_008867.1:g.88856A>G
NG_012446.1:g.613A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4690A>G MANE Select NP_000343.2:p.Lys1564Glu
ENST00000389817.8:c.4690A>G MANE Select ENSP00000374467.4:p.Lys1564Glu
NM_000352.4:c.4690A>G NP_000343.2:p.Lys1564Glu
NM_001287174.1:c.4693A>G NP_001274103.1:p.Lys1565Glu
NM_001287174.2:c.4693A>G NP_001274103.1:p.Lys1565Glu
NM_001287174.3:c.4693A>G NP_001274103.1:p.Lys1565Glu
NM_001351295.1:c.4756A>G NP_001338224.1:p.Lys1586Glu
NM_001351295.2:c.4756A>G NP_001338224.1:p.Lys1586Glu
NM_001351296.1:c.4690A>G NP_001338225.1:p.Lys1564Glu
NM_001351296.2:c.4690A>G NP_001338225.1:p.Lys1564Glu
NM_001351297.1:c.4687A>G NP_001338226.1:p.Lys1563Glu
NM_001351297.2:c.4687A>G NP_001338226.1:p.Lys1563Glu
NR_147094.1:n.4985A>G
NR_147094.2:n.4985A>G
ENST00000302539.8:c.4693A>G ENSP00000303960.4:p.Lys1565Glu
ENST00000302539.9:c.4693A>G ENSP00000303960.4:p.Lys1565Glu
ENST00000389817.7:c.4690A>G ENSP00000374467.3:p.Lys1564Glu
ENST00000524561.2:n.4291A>G
ENST00000525022.1:n.669A>G
ENST00000526037.5:n.450A>G
ENST00000526037.6:n.625A>G
ENST00000526168.5:c.478A>G
ENST00000528374.2:c.1281A>G
ENST00000529967.6:n.3029A>G
ENST00000531642.5:c.721A>G
ENST00000532220.2:n.3923A>G
ENST00000642271.1:c.4687A>G ENSP00000493749.1:p.Lys1563Glu
ENST00000642579.1:c.2744A>G
ENST00000642611.1:n.5908A>G
ENST00000642611.2:n.6023A>G
ENST00000642902.1:c.4472A>G
ENST00000643260.1:c.4690A>G ENSP00000494450.1:p.Lys1564Glu
ENST00000643562.1:c.*2812A>G ENSP00000496124.1:n.*2812A>G
ENST00000643925.1:c.3267A>G
ENST00000644057.1:n.849A>G
ENST00000644057.2:n.1266A>G
ENST00000644484.1:c.*4076A>G ENSP00000493558.1:n.*4076A>G
ENST00000644675.1:c.*2862A>G ENSP00000494567.1:n.*2862A>G
ENST00000644757.1:c.*3203-67A>G ENSP00000495085.1:n.*3203-67A>G
ENST00000644772.1:c.4756A>G ENSP00000494321.1:p.Lys1586Glu
ENST00000645004.1:n.2383A>G
ENST00000645004.2:n.2189A>G
ENST00000645076.1:c.3785A>G
ENST00000645760.1:c.5111A>G
ENST00000645884.1:c.*1973A>G ENSP00000495516.1:n.*1973A>G
ENST00000646003.1:c.*2712A>G ENSP00000495259.1:n.*2712A>G
ENST00000646207.1:c.*3527A>G ENSP00000495025.1:n.*3527A>G
ENST00000646592.1:c.3996A>G
ENST00000646902.1:c.4657A>G ENSP00000494101.1:p.Lys1553Glu
ENST00000646993.1:c.*3128A>G ENSP00000493720.1:n.*3128A>G
ENST00000647015.1:c.4441A>G ENSP00000495389.1:p.Lys1481Glu
ENST00000647086.1:c.*4276A>G ENSP00000493677.1:n.*4276A>G
ENST00000682051.1:n.4852A>G
ENST00000682110.1:n.4905A>G
ENST00000682140.1:c.*476A>G ENSP00000507829.1:n.*476A>G
ENST00000682185.1:n.5995A>G
ENST00000682204.1:c.*2828A>G ENSP00000507094.1:n.*2828A>G
ENST00000682215.1:n.5272A>G
ENST00000682288.1:c.*3121A>G ENSP00000507506.1:n.*3121A>G
ENST00000682442.1:n.5125A>G
ENST00000682528.1:n.4982A>G
ENST00000682673.1:n.4849A>G
ENST00000682805.1:n.5310A>G
ENST00000682965.1:c.*1112A>G ENSP00000508229.1:n.*1112A>G
ENST00000683093.1:n.5885A>G
ENST00000683136.1:c.4573A>G ENSP00000507768.1:p.Lys1525Glu
ENST00000683153.1:n.4947A>G
ENST00000683365.1:n.5007A>G
ENST00000683377.1:n.4801A>G
ENST00000683456.1:c.*1827A>G ENSP00000508318.1:n.*1827A>G
ENST00000683522.1:n.4987A>G
ENST00000683562.1:c.*2755A>G ENSP00000508265.1:n.*2755A>G
ENST00000683693.1:n.6366A>G
ENST00000683725.1:c.*155A>G ENSP00000507496.1:n.*155A>G
ENST00000684010.1:n.4900A>G
ENST00000684014.1:n.877A>G
ENST00000684157.1:n.5890A>G
ENST00000684253.1:n.4808A>G
ENST00000684288.1:c.*2862A>G ENSP00000507143.1:n.*2862A>G
ENST00000684313.1:n.4337A>G
ENST00000684332.1:n.4978A>G
ENST00000684371.1:n.5011A>G
ENST00000684404.1:n.5933A>G
ENST00000684442.1:n.5129A>G
ENST00000684555.1:c.*2902A>G ENSP00000507705.1:n.*2902A>G
ENST00000684571.1:c.4531A>G ENSP00000506935.1:p.Lys1511Glu
ENST00000684593.1:c.*4395A>G ENSP00000507005.1:n.*4395A>G
ENST00000684711.1:c.*3086A>G ENSP00000506841.1:n.*3086A>G
XM_011520331.1:c.4690A>G XP_011518633.1:p.Lys1564Glu
XM_011520333.1:c.3190A>G XP_011518635.1:p.Lys1064Glu
XM_017018197.2:c.4759A>G XP_016873686.1:p.Lys1587Glu
XM_017018199.1:c.4756A>G XP_016873688.1:p.Lys1586Glu
XM_017018202.1:c.3256A>G XP_016873691.1:p.Lys1086Glu
XM_017018204.1:c.2647A>G XP_016873693.1:p.Lys883Glu
XM_024448668.1:c.3058A>G XP_024304436.1:p.Lys1020Glu
XR_001747945.2:n.4727A>G
XR_001747946.2:n.4658A>G
XR_002957189.1:n.6441A>G
XR_930890.1:n.4652A>G