Canonical Allele Identifier: CA5902425

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 434042
• ClinVar RCV Id: RCV000503292 ; RCV003313086
• dbSNP Id: rs148808854
• ExAC: 11:17415264 G / A
• gnomAD v2: 11-17415264-G-A
• gnomAD v4: 11-17393717-G-A
• MyVariant Identifiers: chr11:g.17415264G>A (hg19) ; chr11:g.17393717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393717G>A , CM000673.2:g.17393717G>A	GRCh38
NC_000011.9:g.17415264G>A , CM000673.1:g.17415264G>A	GRCh37
NC_000011.8:g.17371840G>A	NCBI36
NG_008867.1:g.88186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4189C>T
ENST00000526037.6:n.523C>T
ENST00000528374.2:c.1179C>T
ENST00000529967.6:n.2927C>T
ENST00000532220.2:n.3821C>T
ENST00000642611.2:n.5921C>T
ENST00000644057.2:n.1164C>T
ENST00000645004.2:n.2087C>T
ENST00000682051.1:n.4750C>T
ENST00000682110.1:n.4803C>T
ENST00000682140.1:c.*374C>T	ENSP00000507829.1:n.*374C>T
ENST00000682185.1:n.5893C>T
ENST00000682204.1:c.*2726C>T	ENSP00000507094.1:n.*2726C>T
ENST00000682215.1:n.5170C>T
ENST00000682288.1:c.*3019C>T	ENSP00000507506.1:n.*3019C>T
ENST00000682442.1:n.5023C>T
ENST00000682528.1:n.4880C>T
ENST00000682673.1:n.4747C>T
ENST00000682805.1:n.5208C>T
ENST00000682965.1:c.*1010C>T	ENSP00000508229.1:n.*1010C>T
ENST00000683093.1:n.5783C>T
ENST00000683136.1:c.4471C>T	ENSP00000507768.1:p.Arg1491Cys
ENST00000683153.1:n.4845C>T
ENST00000683365.1:n.4905C>T
ENST00000683377.1:n.4699C>T
ENST00000683456.1:c.*1725C>T	ENSP00000508318.1:n.*1725C>T
ENST00000683522.1:n.4885C>T
ENST00000683562.1:c.*2653C>T	ENSP00000508265.1:n.*2653C>T
ENST00000683693.1:n.6264C>T
ENST00000683725.1:c.*53C>T	ENSP00000507496.1:n.*53C>T
ENST00000684010.1:n.4798C>T
ENST00000684014.1:n.775C>T
ENST00000684157.1:n.5788C>T
ENST00000684253.1:n.4706C>T
ENST00000684288.1:c.*2760C>T	ENSP00000507143.1:n.*2760C>T
ENST00000684313.1:n.4235C>T
ENST00000684332.1:n.4876C>T
ENST00000684371.1:n.4909C>T
ENST00000684404.1:n.5831C>T
ENST00000684442.1:n.5027C>T
ENST00000684555.1:c.*2800C>T	ENSP00000507705.1:n.*2800C>T
ENST00000684571.1:c.4429C>T	ENSP00000506935.1:p.Arg1477Cys
ENST00000684593.1:c.*4293C>T	ENSP00000507005.1:n.*4293C>T
ENST00000684711.1:c.*2984C>T	ENSP00000506841.1:n.*2984C>T
ENST00000302539.9:c.4591C>T	ENSP00000303960.4:p.Arg1531Cys
ENST00000389817.8:c.4588C>T MANE Select	ENSP00000374467.4:p.Arg1530Cys
ENST00000642271.1:c.4585C>T	ENSP00000493749.1:p.Arg1529Cys
ENST00000642579.1:c.2642C>T
ENST00000642611.1:n.5806C>T
ENST00000642902.1:c.4370C>T
ENST00000643260.1:c.4588C>T	ENSP00000494450.1:p.Arg1530Cys
ENST00000643562.1:c.*2710C>T	ENSP00000496124.1:n.*2710C>T
ENST00000643925.1:c.3185+549C>T
ENST00000644057.1:n.747C>T
ENST00000644484.1:c.*3974C>T	ENSP00000493558.1:n.*3974C>T
ENST00000644675.1:c.*2760C>T	ENSP00000494567.1:n.*2760C>T
ENST00000644757.1:c.*3203-737C>T	ENSP00000495085.1:n.*3203-737C>T
ENST00000644772.1:c.4654C>T	ENSP00000494321.1:p.Arg1552Cys
ENST00000645004.1:n.2281C>T
ENST00000645076.1:c.3683C>T
ENST00000645417.1:c.1776C>T
ENST00000645744.1:c.*4273C>T	ENSP00000494564.1:n.*4273C>T
ENST00000645760.1:c.5009C>T
ENST00000645884.1:c.*1871C>T	ENSP00000495516.1:n.*1871C>T
ENST00000646003.1:c.*2610C>T	ENSP00000495259.1:n.*2610C>T
ENST00000646207.1:c.*3425C>T	ENSP00000495025.1:n.*3425C>T
ENST00000646276.1:c.*3992C>T	ENSP00000496070.1:n.*3992C>T
ENST00000646592.1:c.3894C>T
ENST00000646902.1:c.4555C>T	ENSP00000494101.1:p.Arg1519Cys
ENST00000646993.1:c.*3026C>T	ENSP00000493720.1:n.*3026C>T
ENST00000647015.1:c.4339C>T	ENSP00000495389.1:p.Arg1447Cys
ENST00000647086.1:c.*4174C>T	ENSP00000493677.1:n.*4174C>T
ENST00000647158.1:c.*2875C>T	ENSP00000495744.1:n.*2875C>T
ENST00000302539.8:c.4591C>T	ENSP00000303960.4:p.Arg1531Cys
ENST00000389817.7:c.4588C>T	ENSP00000374467.3:p.Arg1530Cys
ENST00000525022.1:n.483C>T
ENST00000526037.5:n.348C>T
ENST00000526168.5:c.376C>T
ENST00000531642.5:c.619C>T
NM_000352.4:c.4588C>T	NP_000343.2:p.Arg1530Cys
NM_001287174.1:c.4591C>T	NP_001274103.1:p.Arg1531Cys
XM_011520331.1:c.4588C>T	XP_011518633.1:p.Arg1530Cys
XM_011520333.1:c.3088C>T	XP_011518635.1:p.Arg1030Cys
XR_930890.1:n.4550C>T
NM_001351295.1:c.4654C>T	NP_001338224.1:p.Arg1552Cys
NM_001351296.1:c.4588C>T	NP_001338225.1:p.Arg1530Cys
NM_001351297.1:c.4585C>T	NP_001338226.1:p.Arg1529Cys
NR_147094.1:n.4883C>T
XM_017018197.2:c.4657C>T	XP_016873686.1:p.Arg1553Cys
XM_017018199.1:c.4654C>T	XP_016873688.1:p.Arg1552Cys
XM_017018202.1:c.3154C>T	XP_016873691.1:p.Arg1052Cys
XM_017018204.1:c.2545C>T	XP_016873693.1:p.Arg849Cys
XM_024448668.1:c.2956C>T	XP_024304436.1:p.Arg986Cys
XR_001747945.2:n.4625C>T
XR_001747946.2:n.4556C>T
XR_002957189.1:n.6339C>T
NM_000352.6:c.4588C>T MANE Select	NP_000343.2:p.Arg1530Cys
NM_001287174.2:c.4591C>T	NP_001274103.1:p.Arg1531Cys
NM_001351295.2:c.4654C>T	NP_001338224.1:p.Arg1552Cys
NM_001351296.2:c.4588C>T	NP_001338225.1:p.Arg1530Cys
NM_001351297.2:c.4585C>T	NP_001338226.1:p.Arg1529Cys
NR_147094.2:n.4883C>T
NM_001287174.3:c.4591C>T	NP_001274103.1:p.Arg1531Cys