Canonical Allele Identifier: CA379781396

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414647T>G (hg19) ; chr11:g.17393100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393100T>G , CM000673.2:g.17393100T>G	GRCh38
NC_000011.9:g.17414647T>G , CM000673.1:g.17414647T>G	GRCh37
NC_000011.8:g.17371223T>G	NCBI36
NG_008867.1:g.88803A>C
NG_012446.1:g.560A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4238A>C
ENST00000526037.6:n.572A>C
ENST00000528374.2:c.1228A>C
ENST00000529967.6:n.2976A>C
ENST00000532220.2:n.3870A>C
ENST00000642611.2:n.5970A>C
ENST00000644057.2:n.1213A>C
ENST00000645004.2:n.2136A>C
ENST00000682051.1:n.4799A>C
ENST00000682110.1:n.4852A>C
ENST00000682140.1:c.*423A>C	ENSP00000507829.1:n.*423A>C
ENST00000682185.1:n.5942A>C
ENST00000682204.1:c.*2775A>C	ENSP00000507094.1:n.*2775A>C
ENST00000682215.1:n.5219A>C
ENST00000682288.1:c.*3068A>C	ENSP00000507506.1:n.*3068A>C
ENST00000682442.1:n.5072A>C
ENST00000682528.1:n.4929A>C
ENST00000682673.1:n.4796A>C
ENST00000682805.1:n.5257A>C
ENST00000682965.1:c.*1059A>C	ENSP00000508229.1:n.*1059A>C
ENST00000683093.1:n.5832A>C
ENST00000683136.1:c.4520A>C	ENSP00000507768.1:p.Asp1507Ala
ENST00000683153.1:n.4894A>C
ENST00000683365.1:n.4954A>C
ENST00000683377.1:n.4748A>C
ENST00000683456.1:c.*1774A>C	ENSP00000508318.1:n.*1774A>C
ENST00000683522.1:n.4934A>C
ENST00000683562.1:c.*2702A>C	ENSP00000508265.1:n.*2702A>C
ENST00000683693.1:n.6313A>C
ENST00000683725.1:c.*102A>C	ENSP00000507496.1:n.*102A>C
ENST00000684010.1:n.4847A>C
ENST00000684014.1:n.824A>C
ENST00000684157.1:n.5837A>C
ENST00000684253.1:n.4755A>C
ENST00000684288.1:c.*2809A>C	ENSP00000507143.1:n.*2809A>C
ENST00000684313.1:n.4284A>C
ENST00000684332.1:n.4925A>C
ENST00000684371.1:n.4958A>C
ENST00000684404.1:n.5880A>C
ENST00000684442.1:n.5076A>C
ENST00000684555.1:c.*2849A>C	ENSP00000507705.1:n.*2849A>C
ENST00000684571.1:c.4478A>C	ENSP00000506935.1:p.Asp1493Ala
ENST00000684593.1:c.*4342A>C	ENSP00000507005.1:n.*4342A>C
ENST00000684711.1:c.*3033A>C	ENSP00000506841.1:n.*3033A>C
ENST00000302539.9:c.4640A>C	ENSP00000303960.4:p.Asp1547Ala
ENST00000389817.8:c.4637A>C MANE Select	ENSP00000374467.4:p.Asp1546Ala
ENST00000642271.1:c.4634A>C	ENSP00000493749.1:p.Asp1545Ala
ENST00000642579.1:c.2691A>C
ENST00000642611.1:n.5855A>C
ENST00000642902.1:c.4419A>C
ENST00000643260.1:c.4637A>C	ENSP00000494450.1:p.Asp1546Ala
ENST00000643562.1:c.*2759A>C	ENSP00000496124.1:n.*2759A>C
ENST00000643925.1:c.3214A>C
ENST00000644057.1:n.796A>C
ENST00000644484.1:c.*4023A>C	ENSP00000493558.1:n.*4023A>C
ENST00000644675.1:c.*2809A>C	ENSP00000494567.1:n.*2809A>C
ENST00000644757.1:c.*3203-120A>C	ENSP00000495085.1:n.*3203-120A>C
ENST00000644772.1:c.4703A>C	ENSP00000494321.1:p.Asp1568Ala
ENST00000645004.1:n.2330A>C
ENST00000645076.1:c.3732A>C
ENST00000645417.1:c.1825A>C
ENST00000645760.1:c.5058A>C
ENST00000645884.1:c.*1920A>C	ENSP00000495516.1:n.*1920A>C
ENST00000646003.1:c.*2659A>C	ENSP00000495259.1:n.*2659A>C
ENST00000646207.1:c.*3474A>C	ENSP00000495025.1:n.*3474A>C
ENST00000646276.1:c.*4041A>C	ENSP00000496070.1:n.*4041A>C
ENST00000646592.1:c.3943A>C
ENST00000646902.1:c.4604A>C	ENSP00000494101.1:p.Asp1535Ala
ENST00000646993.1:c.*3075A>C	ENSP00000493720.1:n.*3075A>C
ENST00000647015.1:c.4388A>C	ENSP00000495389.1:p.Asp1463Ala
ENST00000647086.1:c.*4223A>C	ENSP00000493677.1:n.*4223A>C
ENST00000647158.1:c.*2924A>C	ENSP00000495744.1:n.*2924A>C
ENST00000302539.8:c.4640A>C	ENSP00000303960.4:p.Asp1547Ala
ENST00000389817.7:c.4637A>C	ENSP00000374467.3:p.Asp1546Ala
ENST00000525022.1:n.616A>C
ENST00000526037.5:n.397A>C
ENST00000526168.5:c.425A>C
ENST00000531642.5:c.668A>C
NM_000352.4:c.4637A>C	NP_000343.2:p.Asp1546Ala
NM_001287174.1:c.4640A>C	NP_001274103.1:p.Asp1547Ala
XM_011520331.1:c.4637A>C	XP_011518633.1:p.Asp1546Ala
XM_011520333.1:c.3137A>C	XP_011518635.1:p.Asp1046Ala
XR_930890.1:n.4599A>C
NM_001351295.1:c.4703A>C	NP_001338224.1:p.Asp1568Ala
NM_001351296.1:c.4637A>C	NP_001338225.1:p.Asp1546Ala
NM_001351297.1:c.4634A>C	NP_001338226.1:p.Asp1545Ala
NR_147094.1:n.4932A>C
XM_017018197.2:c.4706A>C	XP_016873686.1:p.Asp1569Ala
XM_017018199.1:c.4703A>C	XP_016873688.1:p.Asp1568Ala
XM_017018202.1:c.3203A>C	XP_016873691.1:p.Asp1068Ala
XM_017018204.1:c.2594A>C	XP_016873693.1:p.Asp865Ala
XM_024448668.1:c.3005A>C	XP_024304436.1:p.Asp1002Ala
XR_001747945.2:n.4674A>C
XR_001747946.2:n.4605A>C
XR_002957189.1:n.6388A>C
NM_000352.6:c.4637A>C MANE Select	NP_000343.2:p.Asp1546Ala
NM_001287174.2:c.4640A>C	NP_001274103.1:p.Asp1547Ala
NM_001351295.2:c.4703A>C	NP_001338224.1:p.Asp1568Ala
NM_001351296.2:c.4637A>C	NP_001338225.1:p.Asp1546Ala
NM_001351297.2:c.4634A>C	NP_001338226.1:p.Asp1545Ala
NR_147094.2:n.4932A>C
NM_001287174.3:c.4640A>C	NP_001274103.1:p.Asp1547Ala