Canonical Allele Identifier: CA5903348

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2131079
• ClinVar RCV Id: RCV003052356
• dbSNP Id: rs771361396
• ExAC: 11:17449860 G / T
• gnomAD v2: 11-17449860-G-T
• gnomAD v3: 11-17428313-G-T
• gnomAD v4: 11-17428313-G-T
• MyVariant Identifiers: chr11:g.17449860G>T (hg19) ; chr11:g.17428313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428313G>T , CM000673.2:g.17428313G>T	GRCh38
NC_000011.9:g.17449860G>T , CM000673.1:g.17449860G>T	GRCh37
NC_000011.8:g.17406436G>T	NCBI36
NG_008867.1:g.53590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1685C>A
ENST00000529967.6:n.275C>A
ENST00000642611.2:n.2082C>A
ENST00000682051.1:n.2029C>A
ENST00000682110.1:n.2082C>A
ENST00000682140.1:c.2013C>A	ENSP00000507829.1:p.Gly671=
ENST00000682185.1:n.3321C>A
ENST00000682204.1:c.*154C>A	ENSP00000507094.1:n.*154C>A
ENST00000682215.1:n.2082C>A
ENST00000682288.1:c.*444C>A	ENSP00000507506.1:n.*444C>A
ENST00000682442.1:n.2203C>A
ENST00000682528.1:n.2082C>A
ENST00000682673.1:n.2029C>A
ENST00000682805.1:n.2082C>A
ENST00000682965.1:c.2013C>A	ENSP00000508229.1:p.Gly671=
ENST00000683093.1:n.2184C>A
ENST00000683136.1:c.2013C>A	ENSP00000507768.1:p.Gly671=
ENST00000683153.1:n.2241C>A
ENST00000683253.1:n.3098C>A
ENST00000683365.1:n.2184C>A
ENST00000683377.1:n.2082C>A
ENST00000683456.1:c.2013C>A	ENSP00000508318.1:p.Gly671=
ENST00000683522.1:n.2082C>A
ENST00000683562.1:c.*185C>A	ENSP00000508265.1:n.*185C>A
ENST00000683693.1:n.2082C>A
ENST00000683725.1:c.2016C>A	ENSP00000507496.1:p.Gly672=
ENST00000684010.1:n.2082C>A
ENST00000684157.1:n.2082C>A
ENST00000684253.1:n.1988C>A
ENST00000684288.1:c.*185C>A	ENSP00000507143.1:n.*185C>A
ENST00000684313.1:n.1724-11351C>A
ENST00000684332.1:n.2155C>A
ENST00000684371.1:n.2188C>A
ENST00000684404.1:n.2082C>A
ENST00000684442.1:n.2082C>A
ENST00000684555.1:c.*225C>A	ENSP00000507705.1:n.*225C>A
ENST00000684571.1:c.1857C>A	ENSP00000506935.1:p.Gly619=
ENST00000684593.1:c.*1721C>A	ENSP00000507005.1:n.*1721C>A
ENST00000684711.1:c.*412C>A	ENSP00000506841.1:n.*412C>A
ENST00000302539.9:c.2016C>A	ENSP00000303960.4:p.Gly672=
ENST00000389817.8:c.2016C>A MANE Select	ENSP00000374467.4:p.Gly672=
ENST00000532728.6:c.1597C>A
ENST00000642271.1:c.2013C>A	ENSP00000493749.1:p.Gly671=
ENST00000642579.1:c.97C>A
ENST00000642611.1:n.1967C>A
ENST00000642902.1:c.1851C>A
ENST00000643260.1:c.2013C>A	ENSP00000494450.1:p.Gly671=
ENST00000643562.1:c.2008C>A	ENSP00000496124.1:p.Arg670=
ENST00000644447.1:c.369C>A	ENSP00000496282.1:p.Gly123=
ENST00000644472.1:c.*377C>A	ENSP00000495378.1:n.*377C>A
ENST00000644484.1:c.*225C>A	ENSP00000493558.1:n.*225C>A
ENST00000644542.1:c.*1718C>A	ENSP00000495532.1:n.*1718C>A
ENST00000644649.1:c.1186C>A
ENST00000644675.1:c.*185C>A	ENSP00000494567.1:n.*185C>A
ENST00000644757.1:c.*318C>A	ENSP00000495085.1:n.*318C>A
ENST00000644772.1:c.2082C>A	ENSP00000494321.1:p.Gly694=
ENST00000645076.1:c.1268C>A
ENST00000645744.1:c.*377C>A	ENSP00000494564.1:n.*377C>A
ENST00000645760.1:c.2291C>A
ENST00000645884.1:c.2013C>A	ENSP00000495516.1:p.Gly671=
ENST00000646003.1:c.*154C>A	ENSP00000495259.1:n.*154C>A
ENST00000646207.1:c.*377C>A	ENSP00000495025.1:n.*377C>A
ENST00000646276.1:c.*286C>A	ENSP00000496070.1:n.*286C>A
ENST00000646592.1:c.1239C>A
ENST00000646902.1:c.2013C>A	ENSP00000494101.1:p.Gly671=
ENST00000646993.1:c.*412C>A	ENSP00000493720.1:n.*412C>A
ENST00000647013.1:c.2019C>A	ENSP00000496741.1:n.2019C>A
ENST00000647015.1:c.1764C>A	ENSP00000495389.1:p.Gly588=
ENST00000647086.1:c.*1743C>A	ENSP00000493677.1:n.*1743C>A
ENST00000647158.1:c.*154C>A	ENSP00000495744.1:n.*154C>A
ENST00000302539.8:c.2016C>A	ENSP00000303960.4:p.Gly672=
ENST00000389817.7:c.2016C>A	ENSP00000374467.3:p.Gly672=
ENST00000527905.5:c.1986C>A	ENSP00000431653.1:p.Gly662=
NM_000352.4:c.2016C>A	NP_000343.2:p.Gly672=
NM_001287174.1:c.2016C>A	NP_001274103.1:p.Gly672=
XM_011520331.1:c.2013C>A	XP_011518633.1:p.Gly671=
XM_011520332.1:c.2016C>A	XP_011518634.1:p.Gly672=
XM_011520333.1:c.513C>A	XP_011518635.1:p.Gly171=
XM_011520334.1:c.2016C>A	XP_011518636.1:p.Gly672=
XR_930890.1:n.2079C>A
XR_930891.1:n.2079C>A
XR_930892.1:n.2079C>A
XR_930893.1:n.2079C>A
NM_001351295.1:c.2082C>A	NP_001338224.1:p.Gly694=
NM_001351296.1:c.2013C>A	NP_001338225.1:p.Gly671=
NM_001351297.1:c.2013C>A	NP_001338226.1:p.Gly671=
NR_147094.1:n.2082C>A
XM_017018197.2:c.2082C>A	XP_016873686.1:p.Gly694=
XM_017018199.1:c.2079C>A	XP_016873688.1:p.Gly693=
XM_017018201.2:c.2082C>A	XP_016873690.1:p.Gly694=
XM_017018202.1:c.579C>A	XP_016873691.1:p.Gly193=
XM_017018204.1:c.-28C>A	XP_016873693.1:n.-28C>A
XM_024448668.1:c.381C>A	XP_024304436.1:p.Gly127=
XR_001747945.2:n.2154C>A
XR_001747946.2:n.2088C>A
XR_002957189.1:n.2154C>A
NM_000352.6:c.2016C>A MANE Select	NP_000343.2:p.Gly672=
NM_001287174.2:c.2016C>A	NP_001274103.1:p.Gly672=
NM_001351295.2:c.2082C>A	NP_001338224.1:p.Gly694=
NM_001351296.2:c.2013C>A	NP_001338225.1:p.Gly671=
NM_001351297.2:c.2013C>A	NP_001338226.1:p.Gly671=
NR_147094.2:n.2082C>A
NM_001287174.3:c.2016C>A	NP_001274103.1:p.Gly672=