Canonical Allele Identifier: CA473298203
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417165G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395618G>C , CM000673.2:g.17395618G>C GRCh38
NC_000011.9:g.17417165G>C , CM000673.1:g.17417165G>C GRCh37
NC_000011.8:g.17373741G>C NCBI36
NG_008867.1:g.86285C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3900C>G
ENST00000528374.2:c.890C>G
ENST00000529967.6:n.2638C>G
ENST00000532220.2:n.3532C>G
ENST00000642611.2:n.5632C>G
ENST00000644057.2:n.875C>G
ENST00000645004.2:n.1798C>G
ENST00000682051.1:n.4461C>G
ENST00000682110.1:n.4514C>G
ENST00000682140.1:c.*85C>G ENSP00000507829.1:n.*85C>G
ENST00000682185.1:n.5604C>G
ENST00000682204.1:c.*2437C>G ENSP00000507094.1:n.*2437C>G
ENST00000682215.1:n.4881C>G
ENST00000682288.1:c.*2730C>G ENSP00000507506.1:n.*2730C>G
ENST00000682442.1:n.4734C>G
ENST00000682528.1:n.4591C>G
ENST00000682673.1:n.4458C>G
ENST00000682805.1:n.4919C>G
ENST00000682965.1:c.*721C>G ENSP00000508229.1:n.*721C>G
ENST00000683093.1:n.5598C>G
ENST00000683136.1:c.4182C>G ENSP00000507768.1:p.Gly1394=
ENST00000683153.1:n.4556C>G
ENST00000683365.1:n.4616C>G
ENST00000683377.1:n.4514C>G
ENST00000683456.1:c.*1436C>G ENSP00000508318.1:n.*1436C>G
ENST00000683522.1:n.4514C>G
ENST00000683562.1:c.*2468C>G ENSP00000508265.1:n.*2468C>G
ENST00000683693.1:n.6079C>G
ENST00000683725.1:c.4299C>G ENSP00000507496.1:p.Gly1433=
ENST00000684010.1:n.4509C>G
ENST00000684157.1:n.5499C>G
ENST00000684253.1:n.4417C>G
ENST00000684288.1:c.*2471C>G ENSP00000507143.1:n.*2471C>G
ENST00000684313.1:n.3946C>G
ENST00000684332.1:n.4587C>G
ENST00000684371.1:n.4620C>G
ENST00000684404.1:n.5542C>G
ENST00000684442.1:n.4738C>G
ENST00000684555.1:c.*2511C>G ENSP00000507705.1:n.*2511C>G
ENST00000684571.1:c.4140C>G ENSP00000506935.1:p.Gly1380=
ENST00000684593.1:c.*4004C>G ENSP00000507005.1:n.*4004C>G
ENST00000684711.1:c.*2695C>G ENSP00000506841.1:n.*2695C>G
ENST00000302539.9:c.4302C>G ENSP00000303960.4:p.Gly1434=
ENST00000389817.8:c.4299C>G MANE Select ENSP00000374467.4:p.Gly1433=
ENST00000642271.1:c.4296C>G ENSP00000493749.1:p.Gly1432=
ENST00000642579.1:c.2353C>G
ENST00000642611.1:n.5517C>G
ENST00000642902.1:c.4081C>G
ENST00000643260.1:c.4299C>G ENSP00000494450.1:p.Gly1433=
ENST00000643562.1:c.*2421C>G ENSP00000496124.1:n.*2421C>G
ENST00000643925.1:c.2939C>G
ENST00000644057.1:n.376C>G
ENST00000644484.1:c.*3685C>G ENSP00000493558.1:n.*3685C>G
ENST00000644675.1:c.*2471C>G ENSP00000494567.1:n.*2471C>G
ENST00000644757.1:c.*3202+646C>G ENSP00000495085.1:n.*3202+646C>G
ENST00000644772.1:c.4365C>G ENSP00000494321.1:p.Gly1455=
ENST00000645004.1:n.1992C>G
ENST00000645076.1:c.3498C>G
ENST00000645417.1:c.1487C>G
ENST00000645744.1:c.*3984C>G ENSP00000494564.1:n.*3984C>G
ENST00000645760.1:c.4720C>G
ENST00000645884.1:c.*1582C>G ENSP00000495516.1:n.*1582C>G
ENST00000646003.1:c.*2321C>G ENSP00000495259.1:n.*2321C>G
ENST00000646207.1:c.*3136C>G ENSP00000495025.1:n.*3136C>G
ENST00000646276.1:c.*3703C>G ENSP00000496070.1:n.*3703C>G
ENST00000646592.1:c.3605C>G
ENST00000646902.1:c.4266C>G ENSP00000494101.1:p.Gly1422=
ENST00000646993.1:c.*2841C>G ENSP00000493720.1:n.*2841C>G
ENST00000647013.1:c.4305C>G ENSP00000496741.1:n.4305C>G
ENST00000647015.1:c.4050C>G ENSP00000495389.1:p.Gly1350=
ENST00000647086.1:c.*3885C>G ENSP00000493677.1:n.*3885C>G
ENST00000647158.1:c.*2586C>G ENSP00000495744.1:n.*2586C>G
ENST00000302539.8:c.4302C>G ENSP00000303960.4:p.Gly1434=
ENST00000389817.7:c.4299C>G ENSP00000374467.3:p.Gly1433=
ENST00000525022.1:n.298C>G
ENST00000526037.5:n.163C>G
ENST00000526168.5:c.87C>G
ENST00000531642.5:c.135C>G
NM_000352.4:c.4299C>G NP_000343.2:p.Gly1433=
NM_001287174.1:c.4302C>G NP_001274103.1:p.Gly1434=
XM_011520331.1:c.4299C>G XP_011518633.1:p.Gly1433=
XM_011520332.1:c.4302C>G XP_011518634.1:p.Gly1434=
XM_011520333.1:c.2799C>G XP_011518635.1:p.Gly933=
XR_930890.1:n.4365C>G
NM_001351295.1:c.4365C>G NP_001338224.1:p.Gly1455=
NM_001351296.1:c.4299C>G NP_001338225.1:p.Gly1433=
NM_001351297.1:c.4296C>G NP_001338226.1:p.Gly1432=
NR_147094.1:n.4594C>G
XM_017018197.2:c.4368C>G XP_016873686.1:p.Gly1456=
XM_017018199.1:c.4365C>G XP_016873688.1:p.Gly1455=
XM_017018201.2:c.4368C>G XP_016873690.1:p.Gly1456=
XM_017018202.1:c.2865C>G XP_016873691.1:p.Gly955=
XM_017018204.1:c.2256C>G XP_016873693.1:p.Gly752=
XM_024448668.1:c.2667C>G XP_024304436.1:p.Gly889=
XR_001747945.2:n.4440C>G
XR_001747946.2:n.4371C>G
XR_002957189.1:n.6154C>G
NM_000352.6:c.4299C>G MANE Select NP_000343.2:p.Gly1433=
NM_001287174.2:c.4302C>G NP_001274103.1:p.Gly1434=
NM_001351295.2:c.4365C>G NP_001338224.1:p.Gly1455=
NM_001351296.2:c.4299C>G NP_001338225.1:p.Gly1433=
NM_001351297.2:c.4296C>G NP_001338226.1:p.Gly1432=
NR_147094.2:n.4594C>G
NM_001287174.3:c.4302C>G NP_001274103.1:p.Gly1434=