Canonical Allele Identifier: CA1955122982
Community Standard Title: NM_000352.6(ABCC8):c.4368C= (p.Ile1456=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395215G= , CM000673.2:g.17395215G= GRCh38
NC_000011.9:g.17416762G= , CM000673.1:g.17416762G= GRCh37
NC_000011.8:g.17373338G= NCBI36
NG_008867.1:g.86688C=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4368C= MANE Select NP_000343.2:p.Ile1456=
ENST00000389817.8:c.4368C= MANE Select ENSP00000374467.4:p.Ile1456=
NM_000352.4:c.4368C= NP_000343.2:p.Ile1456=
NM_001287174.1:c.4371C= NP_001274103.1:p.Ile1457=
NM_001287174.2:c.4371C= NP_001274103.1:p.Ile1457=
NM_001287174.3:c.4371C= NP_001274103.1:p.Ile1457=
NM_001351295.1:c.4434C= NP_001338224.1:p.Ile1478=
NM_001351295.2:c.4434C= NP_001338224.1:p.Ile1478=
NM_001351296.1:c.4368C= NP_001338225.1:p.Ile1456=
NM_001351296.2:c.4368C= NP_001338225.1:p.Ile1456=
NM_001351297.1:c.4365C= NP_001338226.1:p.Ile1455=
NM_001351297.2:c.4365C= NP_001338226.1:p.Ile1455=
NR_147094.1:n.4663C=
NR_147094.2:n.4663C=
ENST00000302539.8:c.4371C= ENSP00000303960.4:p.Ile1457=
ENST00000302539.9:c.4371C= ENSP00000303960.4:p.Ile1457=
ENST00000389817.7:c.4368C= ENSP00000374467.3:p.Ile1456=
ENST00000524561.2:n.3969C=
ENST00000525022.1:n.306+395C=
ENST00000526037.5:n.171+395C=
ENST00000526037.6:n.303C=
ENST00000526168.5:c.156C=
ENST00000528374.2:c.959C=
ENST00000529967.6:n.2707C=
ENST00000531642.5:c.399C=
ENST00000532220.2:n.3601C=
ENST00000642271.1:c.4365C= ENSP00000493749.1:p.Ile1455=
ENST00000642579.1:c.2422C=
ENST00000642611.1:n.5586C=
ENST00000642611.2:n.5701C=
ENST00000642902.1:c.4150C=
ENST00000643260.1:c.4368C= ENSP00000494450.1:p.Ile1456=
ENST00000643562.1:c.*2490C= ENSP00000496124.1:n.*2490C=
ENST00000643925.1:c.3008C=
ENST00000644057.1:n.445C=
ENST00000644057.2:n.944C=
ENST00000644484.1:c.*3754C= ENSP00000493558.1:n.*3754C=
ENST00000644675.1:c.*2540C= ENSP00000494567.1:n.*2540C=
ENST00000644757.1:c.*3202+1049C= ENSP00000495085.1:n.*3202+1049C=
ENST00000644772.1:c.4434C= ENSP00000494321.1:p.Ile1478=
ENST00000645004.1:n.2061C=
ENST00000645004.2:n.1867C=
ENST00000645076.1:c.3506+395C=
ENST00000645417.1:c.1556C=
ENST00000645744.1:c.*4053C= ENSP00000494564.1:n.*4053C=
ENST00000645760.1:c.4789C=
ENST00000645884.1:c.*1651C= ENSP00000495516.1:n.*1651C=
ENST00000646003.1:c.*2390C= ENSP00000495259.1:n.*2390C=
ENST00000646207.1:c.*3205C= ENSP00000495025.1:n.*3205C=
ENST00000646276.1:c.*3772C= ENSP00000496070.1:n.*3772C=
ENST00000646592.1:c.3674C=
ENST00000646902.1:c.4335C= ENSP00000494101.1:p.Ile1445=
ENST00000646993.1:c.*2849+395C= ENSP00000493720.1:n.*2849+395C=
ENST00000647013.1:c.4374C= ENSP00000496741.1:n.4374C=
ENST00000647015.1:c.4119C= ENSP00000495389.1:p.Ile1373=
ENST00000647086.1:c.*3954C= ENSP00000493677.1:n.*3954C=
ENST00000647158.1:c.*2655C= ENSP00000495744.1:n.*2655C=
ENST00000682051.1:n.4530C=
ENST00000682110.1:n.4583C=
ENST00000682140.1:c.*154C= ENSP00000507829.1:n.*154C=
ENST00000682185.1:n.5673C=
ENST00000682204.1:c.*2506C= ENSP00000507094.1:n.*2506C=
ENST00000682215.1:n.4950C=
ENST00000682288.1:c.*2799C= ENSP00000507506.1:n.*2799C=
ENST00000682442.1:n.4803C=
ENST00000682528.1:n.4660C=
ENST00000682673.1:n.4527C=
ENST00000682805.1:n.4988C=
ENST00000682965.1:c.*790C= ENSP00000508229.1:n.*790C=
ENST00000683093.1:n.5606+395C=
ENST00000683136.1:c.4251C= ENSP00000507768.1:p.Ile1417=
ENST00000683153.1:n.4625C=
ENST00000683365.1:n.4685C=
ENST00000683377.1:n.4522+395C=
ENST00000683456.1:c.*1505C= ENSP00000508318.1:n.*1505C=
ENST00000683522.1:n.4583C=
ENST00000683562.1:c.*2476+395C= ENSP00000508265.1:n.*2476+395C=
ENST00000683693.1:n.6087+395C=
ENST00000683725.1:c.4307+395C= ENSP00000507496.1:n.4307+395C=
ENST00000684010.1:n.4578C=
ENST00000684157.1:n.5568C=
ENST00000684253.1:n.4486C=
ENST00000684288.1:c.*2540C= ENSP00000507143.1:n.*2540C=
ENST00000684313.1:n.4015C=
ENST00000684332.1:n.4656C=
ENST00000684371.1:n.4689C=
ENST00000684404.1:n.5611C=
ENST00000684442.1:n.4807C=
ENST00000684555.1:c.*2580C= ENSP00000507705.1:n.*2580C=
ENST00000684571.1:c.4209C= ENSP00000506935.1:p.Ile1403=
ENST00000684593.1:c.*4073C= ENSP00000507005.1:n.*4073C=
ENST00000684711.1:c.*2764C= ENSP00000506841.1:n.*2764C=
XM_011520331.1:c.4368C= XP_011518633.1:p.Ile1456=
XM_011520332.1:c.4310+395C= XP_011518634.1:n.4310+395C=
XM_011520333.1:c.2868C= XP_011518635.1:p.Ile956=
XM_017018197.2:c.4437C= XP_016873686.1:p.Ile1479=
XM_017018199.1:c.4434C= XP_016873688.1:p.Ile1478=
XM_017018201.2:c.4376+395C= XP_016873690.1:n.4376+395C=
XM_017018202.1:c.2934C= XP_016873691.1:p.Ile978=
XM_017018204.1:c.2325C= XP_016873693.1:p.Ile775=
XM_024448668.1:c.2736C= XP_024304436.1:p.Ile912=
XR_001747945.2:n.4448+395C=
XR_001747946.2:n.4379+395C=
XR_002957189.1:n.6162+395C=
XR_930890.1:n.4373+395C=