Canonical Allele Identifier: CA379782126

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 554959
• ClinVar RCV Id: RCV000670686
• dbSNP Id: rs142272833
• MyVariant Identifiers: chr11:g.17415289C>G (hg19) ; chr11:g.17393742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393742C>G , CM000673.2:g.17393742C>G	GRCh38
NC_000011.9:g.17415289C>G , CM000673.1:g.17415289C>G	GRCh37
NC_000011.8:g.17371865C>G	NCBI36
NG_008867.1:g.88161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4164G>C
ENST00000526037.6:n.498G>C
ENST00000528374.2:c.1154G>C
ENST00000529967.6:n.2902G>C
ENST00000532220.2:n.3796G>C
ENST00000642611.2:n.5896G>C
ENST00000644057.2:n.1139G>C
ENST00000645004.2:n.2062G>C
ENST00000682051.1:n.4725G>C
ENST00000682110.1:n.4778G>C
ENST00000682140.1:c.*349G>C	ENSP00000507829.1:n.*349G>C
ENST00000682185.1:n.5868G>C
ENST00000682204.1:c.*2701G>C	ENSP00000507094.1:n.*2701G>C
ENST00000682215.1:n.5145G>C
ENST00000682288.1:c.*2994G>C	ENSP00000507506.1:n.*2994G>C
ENST00000682442.1:n.4998G>C
ENST00000682528.1:n.4855G>C
ENST00000682673.1:n.4722G>C
ENST00000682805.1:n.5183G>C
ENST00000682965.1:c.*985G>C	ENSP00000508229.1:n.*985G>C
ENST00000683093.1:n.5758G>C
ENST00000683136.1:c.4446G>C	ENSP00000507768.1:p.Lys1482Asn
ENST00000683153.1:n.4820G>C
ENST00000683365.1:n.4880G>C
ENST00000683377.1:n.4674G>C
ENST00000683456.1:c.*1700G>C	ENSP00000508318.1:n.*1700G>C
ENST00000683522.1:n.4860G>C
ENST00000683562.1:c.*2628G>C	ENSP00000508265.1:n.*2628G>C
ENST00000683693.1:n.6239G>C
ENST00000683725.1:c.*28G>C	ENSP00000507496.1:n.*28G>C
ENST00000684010.1:n.4773G>C
ENST00000684014.1:n.750G>C
ENST00000684157.1:n.5763G>C
ENST00000684253.1:n.4681G>C
ENST00000684288.1:c.*2735G>C	ENSP00000507143.1:n.*2735G>C
ENST00000684313.1:n.4210G>C
ENST00000684332.1:n.4851G>C
ENST00000684371.1:n.4884G>C
ENST00000684404.1:n.5806G>C
ENST00000684442.1:n.5002G>C
ENST00000684555.1:c.*2775G>C	ENSP00000507705.1:n.*2775G>C
ENST00000684571.1:c.4404G>C	ENSP00000506935.1:p.Lys1468Asn
ENST00000684593.1:c.*4268G>C	ENSP00000507005.1:n.*4268G>C
ENST00000684711.1:c.*2959G>C	ENSP00000506841.1:n.*2959G>C
ENST00000302539.9:c.4566G>C	ENSP00000303960.4:p.Lys1522Asn
ENST00000389817.8:c.4563G>C MANE Select	ENSP00000374467.4:p.Lys1521Asn
ENST00000642271.1:c.4560G>C	ENSP00000493749.1:p.Lys1520Asn
ENST00000642579.1:c.2617G>C
ENST00000642611.1:n.5781G>C
ENST00000642902.1:c.4345G>C
ENST00000643260.1:c.4563G>C	ENSP00000494450.1:p.Lys1521Asn
ENST00000643562.1:c.*2685G>C	ENSP00000496124.1:n.*2685G>C
ENST00000643925.1:c.3185+524G>C
ENST00000644057.1:n.722G>C
ENST00000644484.1:c.*3949G>C	ENSP00000493558.1:n.*3949G>C
ENST00000644675.1:c.*2735G>C	ENSP00000494567.1:n.*2735G>C
ENST00000644757.1:c.*3203-762G>C	ENSP00000495085.1:n.*3203-762G>C
ENST00000644772.1:c.4629G>C	ENSP00000494321.1:p.Lys1543Asn
ENST00000645004.1:n.2256G>C
ENST00000645076.1:c.3658G>C
ENST00000645417.1:c.1751G>C
ENST00000645744.1:c.*4248G>C	ENSP00000494564.1:n.*4248G>C
ENST00000645760.1:c.4984G>C
ENST00000645884.1:c.*1846G>C	ENSP00000495516.1:n.*1846G>C
ENST00000646003.1:c.*2585G>C	ENSP00000495259.1:n.*2585G>C
ENST00000646207.1:c.*3400G>C	ENSP00000495025.1:n.*3400G>C
ENST00000646276.1:c.*3967G>C	ENSP00000496070.1:n.*3967G>C
ENST00000646592.1:c.3869G>C
ENST00000646902.1:c.4530G>C	ENSP00000494101.1:p.Lys1510Asn
ENST00000646993.1:c.*3001G>C	ENSP00000493720.1:n.*3001G>C
ENST00000647015.1:c.4314G>C	ENSP00000495389.1:p.Lys1438Asn
ENST00000647086.1:c.*4149G>C	ENSP00000493677.1:n.*4149G>C
ENST00000647158.1:c.*2850G>C	ENSP00000495744.1:n.*2850G>C
ENST00000302539.8:c.4566G>C	ENSP00000303960.4:p.Lys1522Asn
ENST00000389817.7:c.4563G>C	ENSP00000374467.3:p.Lys1521Asn
ENST00000525022.1:n.458G>C
ENST00000526037.5:n.323G>C
ENST00000526168.5:c.351G>C
ENST00000531642.5:c.594G>C
NM_000352.4:c.4563G>C	NP_000343.2:p.Lys1521Asn
NM_001287174.1:c.4566G>C	NP_001274103.1:p.Lys1522Asn
XM_011520331.1:c.4563G>C	XP_011518633.1:p.Lys1521Asn
XM_011520333.1:c.3063G>C	XP_011518635.1:p.Lys1021Asn
XR_930890.1:n.4525G>C
NM_001351295.1:c.4629G>C	NP_001338224.1:p.Lys1543Asn
NM_001351296.1:c.4563G>C	NP_001338225.1:p.Lys1521Asn
NM_001351297.1:c.4560G>C	NP_001338226.1:p.Lys1520Asn
NR_147094.1:n.4858G>C
XM_017018197.2:c.4632G>C	XP_016873686.1:p.Lys1544Asn
XM_017018199.1:c.4629G>C	XP_016873688.1:p.Lys1543Asn
XM_017018202.1:c.3129G>C	XP_016873691.1:p.Lys1043Asn
XM_017018204.1:c.2520G>C	XP_016873693.1:p.Lys840Asn
XM_024448668.1:c.2931G>C	XP_024304436.1:p.Lys977Asn
XR_001747945.2:n.4600G>C
XR_001747946.2:n.4531G>C
XR_002957189.1:n.6314G>C
NM_000352.6:c.4563G>C MANE Select	NP_000343.2:p.Lys1521Asn
NM_001287174.2:c.4566G>C	NP_001274103.1:p.Lys1522Asn
NM_001351295.2:c.4629G>C	NP_001338224.1:p.Lys1543Asn
NM_001351296.2:c.4563G>C	NP_001338225.1:p.Lys1521Asn
NM_001351297.2:c.4560G>C	NP_001338226.1:p.Lys1520Asn
NR_147094.2:n.4858G>C
NM_001287174.3:c.4566G>C	NP_001274103.1:p.Lys1522Asn