Canonical Allele Identifier: CA473297995
Gene: ABCC8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17414661G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393114G>C , CM000673.2:g.17393114G>C GRCh38
NC_000011.9:g.17414661G>C , CM000673.1:g.17414661G>C GRCh37
NC_000011.8:g.17371237G>C NCBI36
NG_008867.1:g.88789C>G
NG_012446.1:g.546C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4224C>G
ENST00000526037.6:n.558C>G
ENST00000528374.2:c.1214C>G
ENST00000529967.6:n.2962C>G
ENST00000532220.2:n.3856C>G
ENST00000642611.2:n.5956C>G
ENST00000644057.2:n.1199C>G
ENST00000645004.2:n.2122C>G
ENST00000682051.1:n.4785C>G
ENST00000682110.1:n.4838C>G
ENST00000682140.1:c.*409C>G ENSP00000507829.1:n.*409C>G
ENST00000682185.1:n.5928C>G
ENST00000682204.1:c.*2761C>G ENSP00000507094.1:n.*2761C>G
ENST00000682215.1:n.5205C>G
ENST00000682288.1:c.*3054C>G ENSP00000507506.1:n.*3054C>G
ENST00000682442.1:n.5058C>G
ENST00000682528.1:n.4915C>G
ENST00000682673.1:n.4782C>G
ENST00000682805.1:n.5243C>G
ENST00000682965.1:c.*1045C>G ENSP00000508229.1:n.*1045C>G
ENST00000683093.1:n.5818C>G
ENST00000683136.1:c.4506C>G ENSP00000507768.1:p.Thr1502=
ENST00000683153.1:n.4880C>G
ENST00000683365.1:n.4940C>G
ENST00000683377.1:n.4734C>G
ENST00000683456.1:c.*1760C>G ENSP00000508318.1:n.*1760C>G
ENST00000683522.1:n.4920C>G
ENST00000683562.1:c.*2688C>G ENSP00000508265.1:n.*2688C>G
ENST00000683693.1:n.6299C>G
ENST00000683725.1:c.*88C>G ENSP00000507496.1:n.*88C>G
ENST00000684010.1:n.4833C>G
ENST00000684014.1:n.810C>G
ENST00000684157.1:n.5823C>G
ENST00000684253.1:n.4741C>G
ENST00000684288.1:c.*2795C>G ENSP00000507143.1:n.*2795C>G
ENST00000684313.1:n.4270C>G
ENST00000684332.1:n.4911C>G
ENST00000684371.1:n.4944C>G
ENST00000684404.1:n.5866C>G
ENST00000684442.1:n.5062C>G
ENST00000684555.1:c.*2835C>G ENSP00000507705.1:n.*2835C>G
ENST00000684571.1:c.4464C>G ENSP00000506935.1:p.Thr1488=
ENST00000684593.1:c.*4328C>G ENSP00000507005.1:n.*4328C>G
ENST00000684711.1:c.*3019C>G ENSP00000506841.1:n.*3019C>G
ENST00000302539.9:c.4626C>G ENSP00000303960.4:p.Thr1542=
ENST00000389817.8:c.4623C>G MANE Select ENSP00000374467.4:p.Thr1541=
ENST00000642271.1:c.4620C>G ENSP00000493749.1:p.Thr1540=
ENST00000642579.1:c.2677C>G
ENST00000642611.1:n.5841C>G
ENST00000642902.1:c.4405C>G
ENST00000643260.1:c.4623C>G ENSP00000494450.1:p.Thr1541=
ENST00000643562.1:c.*2745C>G ENSP00000496124.1:n.*2745C>G
ENST00000643925.1:c.3200C>G
ENST00000644057.1:n.782C>G
ENST00000644484.1:c.*4009C>G ENSP00000493558.1:n.*4009C>G
ENST00000644675.1:c.*2795C>G ENSP00000494567.1:n.*2795C>G
ENST00000644757.1:c.*3203-134C>G ENSP00000495085.1:n.*3203-134C>G
ENST00000644772.1:c.4689C>G ENSP00000494321.1:p.Thr1563=
ENST00000645004.1:n.2316C>G
ENST00000645076.1:c.3718C>G
ENST00000645417.1:c.1811C>G
ENST00000645744.1:c.*4308C>G ENSP00000494564.1:n.*4308C>G
ENST00000645760.1:c.5044C>G
ENST00000645884.1:c.*1906C>G ENSP00000495516.1:n.*1906C>G
ENST00000646003.1:c.*2645C>G ENSP00000495259.1:n.*2645C>G
ENST00000646207.1:c.*3460C>G ENSP00000495025.1:n.*3460C>G
ENST00000646276.1:c.*4027C>G ENSP00000496070.1:n.*4027C>G
ENST00000646592.1:c.3929C>G
ENST00000646902.1:c.4590C>G ENSP00000494101.1:p.Thr1530=
ENST00000646993.1:c.*3061C>G ENSP00000493720.1:n.*3061C>G
ENST00000647015.1:c.4374C>G ENSP00000495389.1:p.Thr1458=
ENST00000647086.1:c.*4209C>G ENSP00000493677.1:n.*4209C>G
ENST00000647158.1:c.*2910C>G ENSP00000495744.1:n.*2910C>G
ENST00000302539.8:c.4626C>G ENSP00000303960.4:p.Thr1542=
ENST00000389817.7:c.4623C>G ENSP00000374467.3:p.Thr1541=
ENST00000525022.1:n.602C>G
ENST00000526037.5:n.383C>G
ENST00000526168.5:c.411C>G
ENST00000531642.5:c.654C>G
NM_000352.4:c.4623C>G NP_000343.2:p.Thr1541=
NM_001287174.1:c.4626C>G NP_001274103.1:p.Thr1542=
XM_011520331.1:c.4623C>G XP_011518633.1:p.Thr1541=
XM_011520333.1:c.3123C>G XP_011518635.1:p.Thr1041=
XR_930890.1:n.4585C>G
NM_001351295.1:c.4689C>G NP_001338224.1:p.Thr1563=
NM_001351296.1:c.4623C>G NP_001338225.1:p.Thr1541=
NM_001351297.1:c.4620C>G NP_001338226.1:p.Thr1540=
NR_147094.1:n.4918C>G
XM_017018197.2:c.4692C>G XP_016873686.1:p.Thr1564=
XM_017018199.1:c.4689C>G XP_016873688.1:p.Thr1563=
XM_017018202.1:c.3189C>G XP_016873691.1:p.Thr1063=
XM_017018204.1:c.2580C>G XP_016873693.1:p.Thr860=
XM_024448668.1:c.2991C>G XP_024304436.1:p.Thr997=
XR_001747945.2:n.4660C>G
XR_001747946.2:n.4591C>G
XR_002957189.1:n.6374C>G
NM_000352.6:c.4623C>G MANE Select NP_000343.2:p.Thr1541=
NM_001287174.2:c.4626C>G NP_001274103.1:p.Thr1542=
NM_001351295.2:c.4689C>G NP_001338224.1:p.Thr1563=
NM_001351296.2:c.4623C>G NP_001338225.1:p.Thr1541=
NM_001351297.2:c.4620C>G NP_001338226.1:p.Thr1540=
NR_147094.2:n.4918C>G
NM_001287174.3:c.4626C>G NP_001274103.1:p.Thr1542=