Canonical Allele Identifier: CA473298201
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17417162G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395615G>C , CM000673.2:g.17395615G>C GRCh38
NC_000011.9:g.17417162G>C , CM000673.1:g.17417162G>C GRCh37
NC_000011.8:g.17373738G>C NCBI36
NG_008867.1:g.86288C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3903C>G
ENST00000528374.2:c.893C>G
ENST00000529967.6:n.2641C>G
ENST00000532220.2:n.3535C>G
ENST00000642611.2:n.5635C>G
ENST00000644057.2:n.878C>G
ENST00000645004.2:n.1801C>G
ENST00000682051.1:n.4464C>G
ENST00000682110.1:n.4517C>G
ENST00000682140.1:c.*88C>G ENSP00000507829.1:n.*88C>G
ENST00000682185.1:n.5607C>G
ENST00000682204.1:c.*2440C>G ENSP00000507094.1:n.*2440C>G
ENST00000682215.1:n.4884C>G
ENST00000682288.1:c.*2733C>G ENSP00000507506.1:n.*2733C>G
ENST00000682442.1:n.4737C>G
ENST00000682528.1:n.4594C>G
ENST00000682673.1:n.4461C>G
ENST00000682805.1:n.4922C>G
ENST00000682965.1:c.*724C>G ENSP00000508229.1:n.*724C>G
ENST00000683093.1:n.5601C>G
ENST00000683136.1:c.4185C>G ENSP00000507768.1:p.Thr1395=
ENST00000683153.1:n.4559C>G
ENST00000683365.1:n.4619C>G
ENST00000683377.1:n.4517C>G
ENST00000683456.1:c.*1439C>G ENSP00000508318.1:n.*1439C>G
ENST00000683522.1:n.4517C>G
ENST00000683562.1:c.*2471C>G ENSP00000508265.1:n.*2471C>G
ENST00000683693.1:n.6082C>G
ENST00000683725.1:c.4302C>G ENSP00000507496.1:p.Thr1434=
ENST00000684010.1:n.4512C>G
ENST00000684157.1:n.5502C>G
ENST00000684253.1:n.4420C>G
ENST00000684288.1:c.*2474C>G ENSP00000507143.1:n.*2474C>G
ENST00000684313.1:n.3949C>G
ENST00000684332.1:n.4590C>G
ENST00000684371.1:n.4623C>G
ENST00000684404.1:n.5545C>G
ENST00000684442.1:n.4741C>G
ENST00000684555.1:c.*2514C>G ENSP00000507705.1:n.*2514C>G
ENST00000684571.1:c.4143C>G ENSP00000506935.1:p.Thr1381=
ENST00000684593.1:c.*4007C>G ENSP00000507005.1:n.*4007C>G
ENST00000684711.1:c.*2698C>G ENSP00000506841.1:n.*2698C>G
ENST00000302539.9:c.4305C>G ENSP00000303960.4:p.Thr1435=
ENST00000389817.8:c.4302C>G MANE Select ENSP00000374467.4:p.Thr1434=
ENST00000642271.1:c.4299C>G ENSP00000493749.1:p.Thr1433=
ENST00000642579.1:c.2356C>G
ENST00000642611.1:n.5520C>G
ENST00000642902.1:c.4084C>G
ENST00000643260.1:c.4302C>G ENSP00000494450.1:p.Thr1434=
ENST00000643562.1:c.*2424C>G ENSP00000496124.1:n.*2424C>G
ENST00000643925.1:c.2942C>G
ENST00000644057.1:n.379C>G
ENST00000644484.1:c.*3688C>G ENSP00000493558.1:n.*3688C>G
ENST00000644675.1:c.*2474C>G ENSP00000494567.1:n.*2474C>G
ENST00000644757.1:c.*3202+649C>G ENSP00000495085.1:n.*3202+649C>G
ENST00000644772.1:c.4368C>G ENSP00000494321.1:p.Thr1456=
ENST00000645004.1:n.1995C>G
ENST00000645076.1:c.3501C>G
ENST00000645417.1:c.1490C>G
ENST00000645744.1:c.*3987C>G ENSP00000494564.1:n.*3987C>G
ENST00000645760.1:c.4723C>G
ENST00000645884.1:c.*1585C>G ENSP00000495516.1:n.*1585C>G
ENST00000646003.1:c.*2324C>G ENSP00000495259.1:n.*2324C>G
ENST00000646207.1:c.*3139C>G ENSP00000495025.1:n.*3139C>G
ENST00000646276.1:c.*3706C>G ENSP00000496070.1:n.*3706C>G
ENST00000646592.1:c.3608C>G
ENST00000646902.1:c.4269C>G ENSP00000494101.1:p.Thr1423=
ENST00000646993.1:c.*2844C>G ENSP00000493720.1:n.*2844C>G
ENST00000647013.1:c.4308C>G ENSP00000496741.1:n.4308C>G
ENST00000647015.1:c.4053C>G ENSP00000495389.1:p.Thr1351=
ENST00000647086.1:c.*3888C>G ENSP00000493677.1:n.*3888C>G
ENST00000647158.1:c.*2589C>G ENSP00000495744.1:n.*2589C>G
ENST00000302539.8:c.4305C>G ENSP00000303960.4:p.Thr1435=
ENST00000389817.7:c.4302C>G ENSP00000374467.3:p.Thr1434=
ENST00000525022.1:n.301C>G
ENST00000526037.5:n.166C>G
ENST00000526168.5:c.90C>G
ENST00000531642.5:c.138C>G
NM_000352.4:c.4302C>G NP_000343.2:p.Thr1434=
NM_001287174.1:c.4305C>G NP_001274103.1:p.Thr1435=
XM_011520331.1:c.4302C>G XP_011518633.1:p.Thr1434=
XM_011520332.1:c.4305C>G XP_011518634.1:p.Thr1435=
XM_011520333.1:c.2802C>G XP_011518635.1:p.Thr934=
XR_930890.1:n.4368C>G
NM_001351295.1:c.4368C>G NP_001338224.1:p.Thr1456=
NM_001351296.1:c.4302C>G NP_001338225.1:p.Thr1434=
NM_001351297.1:c.4299C>G NP_001338226.1:p.Thr1433=
NR_147094.1:n.4597C>G
XM_017018197.2:c.4371C>G XP_016873686.1:p.Thr1457=
XM_017018199.1:c.4368C>G XP_016873688.1:p.Thr1456=
XM_017018201.2:c.4371C>G XP_016873690.1:p.Thr1457=
XM_017018202.1:c.2868C>G XP_016873691.1:p.Thr956=
XM_017018204.1:c.2259C>G XP_016873693.1:p.Thr753=
XM_024448668.1:c.2670C>G XP_024304436.1:p.Thr890=
XR_001747945.2:n.4443C>G
XR_001747946.2:n.4374C>G
XR_002957189.1:n.6157C>G
NM_000352.6:c.4302C>G MANE Select NP_000343.2:p.Thr1434=
NM_001287174.2:c.4305C>G NP_001274103.1:p.Thr1435=
NM_001351295.2:c.4368C>G NP_001338224.1:p.Thr1456=
NM_001351296.2:c.4302C>G NP_001338225.1:p.Thr1434=
NM_001351297.2:c.4299C>G NP_001338226.1:p.Thr1433=
NR_147094.2:n.4597C>G
NM_001287174.3:c.4305C>G NP_001274103.1:p.Thr1435=