Canonical Allele Identifier: CA171086
Community Standard Title: NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393023C>T , CM000673.2:g.17393023C>T GRCh38
NC_000011.9:g.17414570C>T , CM000673.1:g.17414570C>T GRCh37
NC_000011.8:g.17371146C>T NCBI36
NG_008867.1:g.88880G>A
NG_012446.1:g.637G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4714G>A MANE Select NP_000343.2:p.Val1572Ile
ENST00000389817.8:c.4714G>A MANE Select ENSP00000374467.4:p.Val1572Ile
NM_000352.4:c.4714G>A NP_000343.2:p.Val1572Ile
NM_001287174.1:c.4717G>A NP_001274103.1:p.Val1573Ile
NM_001287174.2:c.4717G>A NP_001274103.1:p.Val1573Ile
NM_001287174.3:c.4717G>A NP_001274103.1:p.Val1573Ile
NM_001351295.1:c.4780G>A NP_001338224.1:p.Val1594Ile
NM_001351295.2:c.4780G>A NP_001338224.1:p.Val1594Ile
NM_001351296.1:c.4714G>A NP_001338225.1:p.Val1572Ile
NM_001351296.2:c.4714G>A NP_001338225.1:p.Val1572Ile
NM_001351297.1:c.4711G>A NP_001338226.1:p.Val1571Ile
NM_001351297.2:c.4711G>A NP_001338226.1:p.Val1571Ile
NR_147094.1:n.5009G>A
NR_147094.2:n.5009G>A
ENST00000302539.8:c.4717G>A ENSP00000303960.4:p.Val1573Ile
ENST00000302539.9:c.4717G>A ENSP00000303960.4:p.Val1573Ile
ENST00000389817.7:c.4714G>A ENSP00000374467.3:p.Val1572Ile
ENST00000524561.2:n.4315G>A
ENST00000526037.5:n.474G>A
ENST00000526037.6:n.649G>A
ENST00000526168.5:c.502G>A
ENST00000528374.2:c.1305G>A
ENST00000529967.6:n.3053G>A
ENST00000531642.5:c.745G>A
ENST00000532220.2:n.3947G>A
ENST00000642271.1:c.4711G>A ENSP00000493749.1:p.Val1571Ile
ENST00000642579.1:c.2768G>A
ENST00000642611.1:n.5932G>A
ENST00000642611.2:n.6047G>A
ENST00000642902.1:c.4496G>A
ENST00000643260.1:c.4714G>A ENSP00000494450.1:p.Val1572Ile
ENST00000643562.1:c.*2836G>A ENSP00000496124.1:n.*2836G>A
ENST00000643925.1:c.3291G>A
ENST00000644057.1:n.873G>A
ENST00000644057.2:n.1290G>A
ENST00000644484.1:c.*4100G>A ENSP00000493558.1:n.*4100G>A
ENST00000644675.1:c.*2886G>A ENSP00000494567.1:n.*2886G>A
ENST00000644757.1:c.*3203-43G>A ENSP00000495085.1:n.*3203-43G>A
ENST00000644772.1:c.4780G>A ENSP00000494321.1:p.Val1594Ile
ENST00000645004.1:n.2407G>A
ENST00000645004.2:n.2213G>A
ENST00000645076.1:c.3809G>A
ENST00000645760.1:c.5135G>A
ENST00000645884.1:c.*1997G>A ENSP00000495516.1:n.*1997G>A
ENST00000646003.1:c.*2736G>A ENSP00000495259.1:n.*2736G>A
ENST00000646207.1:c.*3551G>A ENSP00000495025.1:n.*3551G>A
ENST00000646592.1:c.4020G>A
ENST00000646902.1:c.4681G>A ENSP00000494101.1:p.Val1561Ile
ENST00000646993.1:c.*3152G>A ENSP00000493720.1:n.*3152G>A
ENST00000647015.1:c.4465G>A ENSP00000495389.1:p.Val1489Ile
ENST00000647086.1:c.*4300G>A ENSP00000493677.1:n.*4300G>A
ENST00000682051.1:n.4876G>A
ENST00000682110.1:n.4929G>A
ENST00000682140.1:c.*500G>A ENSP00000507829.1:n.*500G>A
ENST00000682185.1:n.6019G>A
ENST00000682204.1:c.*2852G>A ENSP00000507094.1:n.*2852G>A
ENST00000682215.1:n.5296G>A
ENST00000682288.1:c.*3145G>A ENSP00000507506.1:n.*3145G>A
ENST00000682442.1:n.5149G>A
ENST00000682528.1:n.5006G>A
ENST00000682673.1:n.4873G>A
ENST00000682805.1:n.5334G>A
ENST00000682965.1:c.*1136G>A ENSP00000508229.1:n.*1136G>A
ENST00000683093.1:n.5909G>A
ENST00000683136.1:c.4597G>A ENSP00000507768.1:p.Val1533Ile
ENST00000683153.1:n.4971G>A
ENST00000683365.1:n.5031G>A
ENST00000683377.1:n.4825G>A
ENST00000683456.1:c.*1851G>A ENSP00000508318.1:n.*1851G>A
ENST00000683522.1:n.5011G>A
ENST00000683562.1:c.*2779G>A ENSP00000508265.1:n.*2779G>A
ENST00000683693.1:n.6390G>A
ENST00000683725.1:c.*179G>A ENSP00000507496.1:n.*179G>A
ENST00000684010.1:n.4924G>A
ENST00000684014.1:n.901G>A
ENST00000684157.1:n.5914G>A
ENST00000684253.1:n.4832G>A
ENST00000684288.1:c.*2886G>A ENSP00000507143.1:n.*2886G>A
ENST00000684313.1:n.4361G>A
ENST00000684332.1:n.5002G>A
ENST00000684371.1:n.5035G>A
ENST00000684404.1:n.5957G>A
ENST00000684442.1:n.5153G>A
ENST00000684555.1:c.*2926G>A ENSP00000507705.1:n.*2926G>A
ENST00000684571.1:c.4555G>A ENSP00000506935.1:p.Val1519Ile
ENST00000684593.1:c.*4419G>A ENSP00000507005.1:n.*4419G>A
ENST00000684711.1:c.*3110G>A ENSP00000506841.1:n.*3110G>A
XM_011520331.1:c.4714G>A XP_011518633.1:p.Val1572Ile
XM_011520333.1:c.3214G>A XP_011518635.1:p.Val1072Ile
XM_017018197.2:c.4783G>A XP_016873686.1:p.Val1595Ile
XM_017018199.1:c.4780G>A XP_016873688.1:p.Val1594Ile
XM_017018202.1:c.3280G>A XP_016873691.1:p.Val1094Ile
XM_017018204.1:c.2671G>A XP_016873693.1:p.Val891Ile
XM_024448668.1:c.3082G>A XP_024304436.1:p.Val1028Ile
XR_001747945.2:n.4751G>A
XR_001747946.2:n.4682G>A
XR_002957189.1:n.6465G>A
XR_930890.1:n.4676G>A