Canonical Allele Identifier: CA5902548

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2418967
• ClinVar RCV Id: RCV003112211 ; RCV003475528
• dbSNP Id: rs776610373
• ExAC: 11:17417420 G / A
• gnomAD v2: 11-17417420-G-A
• gnomAD v4: 11-17395873-G-A
• COSMIC: COSM1181355
• MyVariant Identifiers: chr11:g.17417420G>A (hg19) ; chr11:g.17395873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395873G>A , CM000673.2:g.17395873G>A	GRCh38
NC_000011.9:g.17417420G>A , CM000673.1:g.17417420G>A	GRCh37
NC_000011.8:g.17373996G>A	NCBI36
NG_008867.1:g.86030C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3778C>T
ENST00000528374.2:c.768C>T
ENST00000529967.6:n.2516C>T
ENST00000532220.2:n.3410C>T
ENST00000642611.2:n.5377C>T
ENST00000644057.2:n.620C>T
ENST00000645004.2:n.1676C>T
ENST00000682051.1:n.4339C>T
ENST00000682110.1:n.4392C>T
ENST00000682140.1:c.4043C>T	ENSP00000507829.1:p.Pro1348Leu
ENST00000682185.1:n.5482C>T
ENST00000682204.1:c.*2315C>T	ENSP00000507094.1:n.*2315C>T
ENST00000682215.1:n.4759C>T
ENST00000682288.1:c.*2608C>T	ENSP00000507506.1:n.*2608C>T
ENST00000682442.1:n.4612C>T
ENST00000682528.1:n.4469C>T
ENST00000682673.1:n.4336C>T
ENST00000682805.1:n.4797C>T
ENST00000682965.1:c.*599C>T	ENSP00000508229.1:n.*599C>T
ENST00000683093.1:n.5476C>T
ENST00000683136.1:c.4060C>T	ENSP00000507768.1:p.Arg1354Cys
ENST00000683153.1:n.4434C>T
ENST00000683365.1:n.4494C>T
ENST00000683377.1:n.4392C>T
ENST00000683456.1:c.*1314C>T	ENSP00000508318.1:n.*1314C>T
ENST00000683522.1:n.4392C>T
ENST00000683562.1:c.*2346C>T	ENSP00000508265.1:n.*2346C>T
ENST00000683693.1:n.5824C>T
ENST00000683725.1:c.4177C>T	ENSP00000507496.1:p.Arg1393Cys
ENST00000684010.1:n.4387C>T
ENST00000684157.1:n.5377C>T
ENST00000684253.1:n.4295C>T
ENST00000684288.1:c.*2349C>T	ENSP00000507143.1:n.*2349C>T
ENST00000684313.1:n.3824C>T
ENST00000684332.1:n.4465C>T
ENST00000684371.1:n.4498C>T
ENST00000684404.1:n.5420C>T
ENST00000684442.1:n.4616C>T
ENST00000684555.1:c.*2389C>T	ENSP00000507705.1:n.*2389C>T
ENST00000684571.1:c.4018C>T	ENSP00000506935.1:p.Arg1340Cys
ENST00000684593.1:c.*3882C>T	ENSP00000507005.1:n.*3882C>T
ENST00000684711.1:c.*2573C>T	ENSP00000506841.1:n.*2573C>T
ENST00000302539.9:c.4180C>T	ENSP00000303960.4:p.Arg1394Cys
ENST00000389817.8:c.4177C>T MANE Select	ENSP00000374467.4:p.Arg1393Cys
ENST00000642271.1:c.4174C>T	ENSP00000493749.1:p.Arg1392Cys
ENST00000642579.1:c.2231C>T
ENST00000642611.1:n.5262C>T
ENST00000642902.1:c.3959C>T
ENST00000643260.1:c.4177C>T	ENSP00000494450.1:p.Arg1393Cys
ENST00000643562.1:c.*2299C>T	ENSP00000496124.1:n.*2299C>T
ENST00000643925.1:c.2817C>T
ENST00000644057.1:n.254C>T
ENST00000644484.1:c.*3563C>T	ENSP00000493558.1:n.*3563C>T
ENST00000644675.1:c.*2349C>T	ENSP00000494567.1:n.*2349C>T
ENST00000644757.1:c.*3202+391C>T	ENSP00000495085.1:n.*3202+391C>T
ENST00000644772.1:c.4243C>T	ENSP00000494321.1:p.Arg1415Cys
ENST00000645004.1:n.1870C>T
ENST00000645076.1:c.3376C>T
ENST00000645417.1:c.1365C>T
ENST00000645744.1:c.*3942C>T	ENSP00000494564.1:n.*3942C>T
ENST00000645760.1:c.4598C>T
ENST00000645884.1:c.*1460C>T	ENSP00000495516.1:n.*1460C>T
ENST00000646003.1:c.*2279C>T	ENSP00000495259.1:n.*2279C>T
ENST00000646207.1:c.*3014C>T	ENSP00000495025.1:n.*3014C>T
ENST00000646276.1:c.*3581C>T	ENSP00000496070.1:n.*3581C>T
ENST00000646592.1:c.3483C>T
ENST00000646902.1:c.4144C>T	ENSP00000494101.1:p.Arg1382Cys
ENST00000646993.1:c.*2719C>T	ENSP00000493720.1:n.*2719C>T
ENST00000647013.1:c.4183C>T	ENSP00000496741.1:n.4183C>T
ENST00000647015.1:c.3928C>T	ENSP00000495389.1:p.Arg1310Cys
ENST00000647086.1:c.*3763C>T	ENSP00000493677.1:n.*3763C>T
ENST00000647158.1:c.*2464C>T	ENSP00000495744.1:n.*2464C>T
ENST00000302539.8:c.4180C>T	ENSP00000303960.4:p.Arg1394Cys
ENST00000389817.7:c.4177C>T	ENSP00000374467.3:p.Arg1393Cys
ENST00000525022.1:n.43C>T
ENST00000526168.5:c.45C>T
ENST00000531642.5:c.13C>T
NM_000352.4:c.4177C>T	NP_000343.2:p.Arg1393Cys
NM_001287174.1:c.4180C>T	NP_001274103.1:p.Arg1394Cys
XM_011520331.1:c.4177C>T	XP_011518633.1:p.Arg1393Cys
XM_011520332.1:c.4180C>T	XP_011518634.1:p.Arg1394Cys
XM_011520333.1:c.2677C>T	XP_011518635.1:p.Arg893Cys
XR_930890.1:n.4243C>T
NM_001351295.1:c.4243C>T	NP_001338224.1:p.Arg1415Cys
NM_001351296.1:c.4177C>T	NP_001338225.1:p.Arg1393Cys
NM_001351297.1:c.4174C>T	NP_001338226.1:p.Arg1392Cys
NR_147094.1:n.4472C>T
XM_017018197.2:c.4246C>T	XP_016873686.1:p.Arg1416Cys
XM_017018199.1:c.4243C>T	XP_016873688.1:p.Arg1415Cys
XM_017018201.2:c.4246C>T	XP_016873690.1:p.Arg1416Cys
XM_017018202.1:c.2743C>T	XP_016873691.1:p.Arg915Cys
XM_017018204.1:c.2134C>T	XP_016873693.1:p.Arg712Cys
XM_024448668.1:c.2545C>T	XP_024304436.1:p.Arg849Cys
XR_001747945.2:n.4318C>T
XR_001747946.2:n.4249C>T
XR_002957189.1:n.5899C>T
NM_000352.6:c.4177C>T MANE Select	NP_000343.2:p.Arg1393Cys
NM_001287174.2:c.4180C>T	NP_001274103.1:p.Arg1394Cys
NM_001351295.2:c.4243C>T	NP_001338224.1:p.Arg1415Cys
NM_001351296.2:c.4177C>T	NP_001338225.1:p.Arg1393Cys
NM_001351297.2:c.4174C>T	NP_001338226.1:p.Arg1392Cys
NR_147094.2:n.4472C>T
NM_001287174.3:c.4180C>T	NP_001274103.1:p.Arg1394Cys