Canonical Allele Identifier: CA473516058

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1953183
• ClinVar RCV Id: RCV002700196
• dbSNP Id: rs1955682420
• gnomAD v3: 11-17428310-A-G
• gnomAD v4: 11-17428310-A-G
• MyVariant Identifiers: chr11:g.17449857A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428310A>G , CM000673.2:g.17428310A>G	GRCh38
NC_000011.9:g.17449857A>G , CM000673.1:g.17449857A>G	GRCh37
NC_000011.8:g.17406433A>G	NCBI36
NG_008867.1:g.53593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1688T>C
ENST00000529967.6:n.278T>C
ENST00000642611.2:n.2085T>C
ENST00000682051.1:n.2032T>C
ENST00000682110.1:n.2085T>C
ENST00000682140.1:c.2016T>C	ENSP00000507829.1:p.Asp672=
ENST00000682185.1:n.3324T>C
ENST00000682204.1:c.*157T>C	ENSP00000507094.1:n.*157T>C
ENST00000682215.1:n.2085T>C
ENST00000682288.1:c.*447T>C	ENSP00000507506.1:n.*447T>C
ENST00000682442.1:n.2206T>C
ENST00000682528.1:n.2085T>C
ENST00000682673.1:n.2032T>C
ENST00000682805.1:n.2085T>C
ENST00000682965.1:c.2016T>C	ENSP00000508229.1:p.Asp672=
ENST00000683093.1:n.2187T>C
ENST00000683136.1:c.2016T>C	ENSP00000507768.1:p.Asp672=
ENST00000683153.1:n.2244T>C
ENST00000683253.1:n.3101T>C
ENST00000683365.1:n.2187T>C
ENST00000683377.1:n.2085T>C
ENST00000683456.1:c.2016T>C	ENSP00000508318.1:p.Asp672=
ENST00000683522.1:n.2085T>C
ENST00000683562.1:c.*188T>C	ENSP00000508265.1:n.*188T>C
ENST00000683693.1:n.2085T>C
ENST00000683725.1:c.2019T>C	ENSP00000507496.1:p.Asp673=
ENST00000684010.1:n.2085T>C
ENST00000684157.1:n.2085T>C
ENST00000684253.1:n.1991T>C
ENST00000684288.1:c.*188T>C	ENSP00000507143.1:n.*188T>C
ENST00000684313.1:n.1724-11348T>C
ENST00000684332.1:n.2158T>C
ENST00000684371.1:n.2191T>C
ENST00000684404.1:n.2085T>C
ENST00000684442.1:n.2085T>C
ENST00000684555.1:c.*228T>C	ENSP00000507705.1:n.*228T>C
ENST00000684571.1:c.1860T>C	ENSP00000506935.1:p.Asp620=
ENST00000684593.1:c.*1724T>C	ENSP00000507005.1:n.*1724T>C
ENST00000684711.1:c.*415T>C	ENSP00000506841.1:n.*415T>C
ENST00000302539.9:c.2019T>C	ENSP00000303960.4:p.Asp673=
ENST00000389817.8:c.2019T>C MANE Select	ENSP00000374467.4:p.Asp673=
ENST00000532728.6:c.1600T>C
ENST00000642271.1:c.2016T>C	ENSP00000493749.1:p.Asp672=
ENST00000642579.1:c.100T>C
ENST00000642611.1:n.1970T>C
ENST00000642902.1:c.1854T>C
ENST00000643260.1:c.2016T>C	ENSP00000494450.1:p.Asp672=
ENST00000643562.1:c.2011T>C	ENSP00000496124.1:p.Cys671Arg
ENST00000644447.1:c.372T>C	ENSP00000496282.1:p.Asp124=
ENST00000644472.1:c.*380T>C	ENSP00000495378.1:n.*380T>C
ENST00000644484.1:c.*228T>C	ENSP00000493558.1:n.*228T>C
ENST00000644542.1:c.*1721T>C	ENSP00000495532.1:n.*1721T>C
ENST00000644649.1:c.1189T>C
ENST00000644675.1:c.*188T>C	ENSP00000494567.1:n.*188T>C
ENST00000644757.1:c.*321T>C	ENSP00000495085.1:n.*321T>C
ENST00000644772.1:c.2085T>C	ENSP00000494321.1:p.Asp695=
ENST00000645076.1:c.1271T>C
ENST00000645744.1:c.*380T>C	ENSP00000494564.1:n.*380T>C
ENST00000645760.1:c.2294T>C
ENST00000645884.1:c.2016T>C	ENSP00000495516.1:p.Asp672=
ENST00000646003.1:c.*157T>C	ENSP00000495259.1:n.*157T>C
ENST00000646207.1:c.*380T>C	ENSP00000495025.1:n.*380T>C
ENST00000646276.1:c.*289T>C	ENSP00000496070.1:n.*289T>C
ENST00000646592.1:c.1242T>C
ENST00000646902.1:c.2016T>C	ENSP00000494101.1:p.Asp672=
ENST00000646993.1:c.*415T>C	ENSP00000493720.1:n.*415T>C
ENST00000647013.1:c.2022T>C	ENSP00000496741.1:n.2022T>C
ENST00000647015.1:c.1767T>C	ENSP00000495389.1:p.Asp589=
ENST00000647086.1:c.*1746T>C	ENSP00000493677.1:n.*1746T>C
ENST00000647158.1:c.*157T>C	ENSP00000495744.1:n.*157T>C
ENST00000302539.8:c.2019T>C	ENSP00000303960.4:p.Asp673=
ENST00000389817.7:c.2019T>C	ENSP00000374467.3:p.Asp673=
ENST00000527905.5:c.1989T>C	ENSP00000431653.1:p.Asp663=
NM_000352.4:c.2019T>C	NP_000343.2:p.Asp673=
NM_001287174.1:c.2019T>C	NP_001274103.1:p.Asp673=
XM_011520331.1:c.2016T>C	XP_011518633.1:p.Asp672=
XM_011520332.1:c.2019T>C	XP_011518634.1:p.Asp673=
XM_011520333.1:c.516T>C	XP_011518635.1:p.Asp172=
XM_011520334.1:c.2019T>C	XP_011518636.1:p.Asp673=
XR_930890.1:n.2082T>C
XR_930891.1:n.2082T>C
XR_930892.1:n.2082T>C
XR_930893.1:n.2082T>C
NM_001351295.1:c.2085T>C	NP_001338224.1:p.Asp695=
NM_001351296.1:c.2016T>C	NP_001338225.1:p.Asp672=
NM_001351297.1:c.2016T>C	NP_001338226.1:p.Asp672=
NR_147094.1:n.2085T>C
XM_017018197.2:c.2085T>C	XP_016873686.1:p.Asp695=
XM_017018199.1:c.2082T>C	XP_016873688.1:p.Asp694=
XM_017018201.2:c.2085T>C	XP_016873690.1:p.Asp695=
XM_017018202.1:c.582T>C	XP_016873691.1:p.Asp194=
XM_017018204.1:c.-25T>C	XP_016873693.1:n.-25T>C
XM_024448668.1:c.384T>C	XP_024304436.1:p.Asp128=
XR_001747945.2:n.2157T>C
XR_001747946.2:n.2091T>C
XR_002957189.1:n.2157T>C
NM_000352.6:c.2019T>C MANE Select	NP_000343.2:p.Asp673=
NM_001287174.2:c.2019T>C	NP_001274103.1:p.Asp673=
NM_001351295.2:c.2085T>C	NP_001338224.1:p.Asp695=
NM_001351296.2:c.2016T>C	NP_001338225.1:p.Asp672=
NM_001351297.2:c.2016T>C	NP_001338226.1:p.Asp672=
NR_147094.2:n.2085T>C
NM_001287174.3:c.2019T>C	NP_001274103.1:p.Asp673=