Canonical Allele Identifier: CA379781226

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414624C>A (hg19) ; chr11:g.17393077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393077C>A , CM000673.2:g.17393077C>A	GRCh38
NC_000011.9:g.17414624C>A , CM000673.1:g.17414624C>A	GRCh37
NC_000011.8:g.17371200C>A	NCBI36
NG_008867.1:g.88826G>T
NG_012446.1:g.583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4261G>T
ENST00000526037.6:n.595G>T
ENST00000528374.2:c.1251G>T
ENST00000529967.6:n.2999G>T
ENST00000532220.2:n.3893G>T
ENST00000642611.2:n.5993G>T
ENST00000644057.2:n.1236G>T
ENST00000645004.2:n.2159G>T
ENST00000682051.1:n.4822G>T
ENST00000682110.1:n.4875G>T
ENST00000682140.1:c.*446G>T	ENSP00000507829.1:n.*446G>T
ENST00000682185.1:n.5965G>T
ENST00000682204.1:c.*2798G>T	ENSP00000507094.1:n.*2798G>T
ENST00000682215.1:n.5242G>T
ENST00000682288.1:c.*3091G>T	ENSP00000507506.1:n.*3091G>T
ENST00000682442.1:n.5095G>T
ENST00000682528.1:n.4952G>T
ENST00000682673.1:n.4819G>T
ENST00000682805.1:n.5280G>T
ENST00000682965.1:c.*1082G>T	ENSP00000508229.1:n.*1082G>T
ENST00000683093.1:n.5855G>T
ENST00000683136.1:c.4543G>T	ENSP00000507768.1:p.Gly1515Cys
ENST00000683153.1:n.4917G>T
ENST00000683365.1:n.4977G>T
ENST00000683377.1:n.4771G>T
ENST00000683456.1:c.*1797G>T	ENSP00000508318.1:n.*1797G>T
ENST00000683522.1:n.4957G>T
ENST00000683562.1:c.*2725G>T	ENSP00000508265.1:n.*2725G>T
ENST00000683693.1:n.6336G>T
ENST00000683725.1:c.*125G>T	ENSP00000507496.1:n.*125G>T
ENST00000684010.1:n.4870G>T
ENST00000684014.1:n.847G>T
ENST00000684157.1:n.5860G>T
ENST00000684253.1:n.4778G>T
ENST00000684288.1:c.*2832G>T	ENSP00000507143.1:n.*2832G>T
ENST00000684313.1:n.4307G>T
ENST00000684332.1:n.4948G>T
ENST00000684371.1:n.4981G>T
ENST00000684404.1:n.5903G>T
ENST00000684442.1:n.5099G>T
ENST00000684555.1:c.*2872G>T	ENSP00000507705.1:n.*2872G>T
ENST00000684571.1:c.4501G>T	ENSP00000506935.1:p.Gly1501Cys
ENST00000684593.1:c.*4365G>T	ENSP00000507005.1:n.*4365G>T
ENST00000684711.1:c.*3056G>T	ENSP00000506841.1:n.*3056G>T
ENST00000302539.9:c.4663G>T	ENSP00000303960.4:p.Gly1555Cys
ENST00000389817.8:c.4660G>T MANE Select	ENSP00000374467.4:p.Gly1554Cys
ENST00000642271.1:c.4657G>T	ENSP00000493749.1:p.Gly1553Cys
ENST00000642579.1:c.2714G>T
ENST00000642611.1:n.5878G>T
ENST00000642902.1:c.4442G>T
ENST00000643260.1:c.4660G>T	ENSP00000494450.1:p.Gly1554Cys
ENST00000643562.1:c.*2782G>T	ENSP00000496124.1:n.*2782G>T
ENST00000643925.1:c.3237G>T
ENST00000644057.1:n.819G>T
ENST00000644484.1:c.*4046G>T	ENSP00000493558.1:n.*4046G>T
ENST00000644675.1:c.*2832G>T	ENSP00000494567.1:n.*2832G>T
ENST00000644757.1:c.*3203-97G>T	ENSP00000495085.1:n.*3203-97G>T
ENST00000644772.1:c.4726G>T	ENSP00000494321.1:p.Gly1576Cys
ENST00000645004.1:n.2353G>T
ENST00000645076.1:c.3755G>T
ENST00000645417.1:c.1848G>T
ENST00000645760.1:c.5081G>T
ENST00000645884.1:c.*1943G>T	ENSP00000495516.1:n.*1943G>T
ENST00000646003.1:c.*2682G>T	ENSP00000495259.1:n.*2682G>T
ENST00000646207.1:c.*3497G>T	ENSP00000495025.1:n.*3497G>T
ENST00000646592.1:c.3966G>T
ENST00000646902.1:c.4627G>T	ENSP00000494101.1:p.Gly1543Cys
ENST00000646993.1:c.*3098G>T	ENSP00000493720.1:n.*3098G>T
ENST00000647015.1:c.4411G>T	ENSP00000495389.1:p.Gly1471Cys
ENST00000647086.1:c.*4246G>T	ENSP00000493677.1:n.*4246G>T
ENST00000647158.1:c.*2947G>T	ENSP00000495744.1:n.*2947G>T
ENST00000302539.8:c.4663G>T	ENSP00000303960.4:p.Gly1555Cys
ENST00000389817.7:c.4660G>T	ENSP00000374467.3:p.Gly1554Cys
ENST00000525022.1:n.639G>T
ENST00000526037.5:n.420G>T
ENST00000526168.5:c.448G>T
ENST00000531642.5:c.691G>T
NM_000352.4:c.4660G>T	NP_000343.2:p.Gly1554Cys
NM_001287174.1:c.4663G>T	NP_001274103.1:p.Gly1555Cys
XM_011520331.1:c.4660G>T	XP_011518633.1:p.Gly1554Cys
XM_011520333.1:c.3160G>T	XP_011518635.1:p.Gly1054Cys
XR_930890.1:n.4622G>T
NM_001351295.1:c.4726G>T	NP_001338224.1:p.Gly1576Cys
NM_001351296.1:c.4660G>T	NP_001338225.1:p.Gly1554Cys
NM_001351297.1:c.4657G>T	NP_001338226.1:p.Gly1553Cys
NR_147094.1:n.4955G>T
XM_017018197.2:c.4729G>T	XP_016873686.1:p.Gly1577Cys
XM_017018199.1:c.4726G>T	XP_016873688.1:p.Gly1576Cys
XM_017018202.1:c.3226G>T	XP_016873691.1:p.Gly1076Cys
XM_017018204.1:c.2617G>T	XP_016873693.1:p.Gly873Cys
XM_024448668.1:c.3028G>T	XP_024304436.1:p.Gly1010Cys
XR_001747945.2:n.4697G>T
XR_001747946.2:n.4628G>T
XR_002957189.1:n.6411G>T
NM_000352.6:c.4660G>T MANE Select	NP_000343.2:p.Gly1554Cys
NM_001287174.2:c.4663G>T	NP_001274103.1:p.Gly1555Cys
NM_001351295.2:c.4726G>T	NP_001338224.1:p.Gly1576Cys
NM_001351296.2:c.4660G>T	NP_001338225.1:p.Gly1554Cys
NM_001351297.2:c.4657G>T	NP_001338226.1:p.Gly1553Cys
NR_147094.2:n.4955G>T
NM_001287174.3:c.4663G>T	NP_001274103.1:p.Gly1555Cys