Canonical Allele Identifier: CA473298062

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415831A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394284A>G , CM000673.2:g.17394284A>G	GRCh38
NC_000011.9:g.17415831A>G , CM000673.1:g.17415831A>G	GRCh37
NC_000011.8:g.17372407A>G	NCBI36
NG_008867.1:g.87619T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4128T>C
ENST00000526037.6:n.462T>C
ENST00000528374.2:c.1118T>C
ENST00000529967.6:n.2866T>C
ENST00000532220.2:n.3760T>C
ENST00000642611.2:n.5860T>C
ENST00000644057.2:n.1103T>C
ENST00000645004.2:n.2026T>C
ENST00000682051.1:n.4689T>C
ENST00000682110.1:n.4742T>C
ENST00000682140.1:c.*313T>C	ENSP00000507829.1:n.*313T>C
ENST00000682185.1:n.5832T>C
ENST00000682204.1:c.*2665T>C	ENSP00000507094.1:n.*2665T>C
ENST00000682215.1:n.5109T>C
ENST00000682288.1:c.*2958T>C	ENSP00000507506.1:n.*2958T>C
ENST00000682442.1:n.4962T>C
ENST00000682528.1:n.4819T>C
ENST00000682673.1:n.4686T>C
ENST00000682805.1:n.5147T>C
ENST00000682965.1:c.*949T>C	ENSP00000508229.1:n.*949T>C
ENST00000683093.1:n.5722T>C
ENST00000683136.1:c.4410T>C	ENSP00000507768.1:p.Ala1470=
ENST00000683153.1:n.4784T>C
ENST00000683365.1:n.4844T>C
ENST00000683377.1:n.4638T>C
ENST00000683456.1:c.*1664T>C	ENSP00000508318.1:n.*1664T>C
ENST00000683522.1:n.4824T>C
ENST00000683562.1:c.*2592T>C	ENSP00000508265.1:n.*2592T>C
ENST00000683693.1:n.6203T>C
ENST00000683725.1:c.4423T>C	ENSP00000507496.1:p.Phe1475Leu
ENST00000684010.1:n.4737T>C
ENST00000684014.1:n.714T>C
ENST00000684157.1:n.5727T>C
ENST00000684253.1:n.4645T>C
ENST00000684288.1:c.*2699T>C	ENSP00000507143.1:n.*2699T>C
ENST00000684313.1:n.4174T>C
ENST00000684332.1:n.4815T>C
ENST00000684371.1:n.4848T>C
ENST00000684404.1:n.5770T>C
ENST00000684442.1:n.4966T>C
ENST00000684555.1:c.*2739T>C	ENSP00000507705.1:n.*2739T>C
ENST00000684571.1:c.4368T>C	ENSP00000506935.1:p.Ala1456=
ENST00000684593.1:c.*4232T>C	ENSP00000507005.1:n.*4232T>C
ENST00000684711.1:c.*2923T>C	ENSP00000506841.1:n.*2923T>C
ENST00000302539.9:c.4530T>C	ENSP00000303960.4:p.Ala1510=
ENST00000389817.8:c.4527T>C MANE Select	ENSP00000374467.4:p.Ala1509=
ENST00000642271.1:c.4524T>C	ENSP00000493749.1:p.Ala1508=
ENST00000642579.1:c.2581T>C
ENST00000642611.1:n.5745T>C
ENST00000642902.1:c.4309T>C
ENST00000643260.1:c.4527T>C	ENSP00000494450.1:p.Ala1509=
ENST00000643562.1:c.*2649T>C	ENSP00000496124.1:n.*2649T>C
ENST00000643925.1:c.3167T>C
ENST00000644057.1:n.686T>C
ENST00000644484.1:c.*3913T>C	ENSP00000493558.1:n.*3913T>C
ENST00000644675.1:c.*2699T>C	ENSP00000494567.1:n.*2699T>C
ENST00000644757.1:c.*3203-1304T>C	ENSP00000495085.1:n.*3203-1304T>C
ENST00000644772.1:c.4593T>C	ENSP00000494321.1:p.Ala1531=
ENST00000645004.1:n.2220T>C
ENST00000645076.1:c.3622T>C
ENST00000645417.1:c.1715T>C
ENST00000645744.1:c.*4212T>C	ENSP00000494564.1:n.*4212T>C
ENST00000645760.1:c.4948T>C
ENST00000645884.1:c.*1810T>C	ENSP00000495516.1:n.*1810T>C
ENST00000646003.1:c.*2549T>C	ENSP00000495259.1:n.*2549T>C
ENST00000646207.1:c.*3364T>C	ENSP00000495025.1:n.*3364T>C
ENST00000646276.1:c.*3931T>C	ENSP00000496070.1:n.*3931T>C
ENST00000646592.1:c.3833T>C
ENST00000646902.1:c.4494T>C	ENSP00000494101.1:p.Ala1498=
ENST00000646993.1:c.*2965T>C	ENSP00000493720.1:n.*2965T>C
ENST00000647015.1:c.4278T>C	ENSP00000495389.1:p.Ala1426=
ENST00000647086.1:c.*4113T>C	ENSP00000493677.1:n.*4113T>C
ENST00000647158.1:c.*2814T>C	ENSP00000495744.1:n.*2814T>C
ENST00000302539.8:c.4530T>C	ENSP00000303960.4:p.Ala1510=
ENST00000389817.7:c.4527T>C	ENSP00000374467.3:p.Ala1509=
ENST00000525022.1:n.422T>C
ENST00000526037.5:n.287T>C
ENST00000526168.5:c.315T>C
ENST00000531642.5:c.558T>C
NM_000352.4:c.4527T>C	NP_000343.2:p.Ala1509=
NM_001287174.1:c.4530T>C	NP_001274103.1:p.Ala1510=
XM_011520331.1:c.4527T>C	XP_011518633.1:p.Ala1509=
XM_011520332.1:c.4426T>C	XP_011518634.1:p.Phe1476Leu
XM_011520333.1:c.3027T>C	XP_011518635.1:p.Ala1009=
XR_930890.1:n.4489T>C
NM_001351295.1:c.4593T>C	NP_001338224.1:p.Ala1531=
NM_001351296.1:c.4527T>C	NP_001338225.1:p.Ala1509=
NM_001351297.1:c.4524T>C	NP_001338226.1:p.Ala1508=
NR_147094.1:n.4822T>C
XM_017018197.2:c.4596T>C	XP_016873686.1:p.Ala1532=
XM_017018199.1:c.4593T>C	XP_016873688.1:p.Ala1531=
XM_017018201.2:c.4492T>C	XP_016873690.1:p.Phe1498Leu
XM_017018202.1:c.3093T>C	XP_016873691.1:p.Ala1031=
XM_017018204.1:c.2484T>C	XP_016873693.1:p.Ala828=
XM_024448668.1:c.2895T>C	XP_024304436.1:p.Ala965=
XR_001747945.2:n.4564T>C
XR_001747946.2:n.4495T>C
XR_002957189.1:n.6278T>C
NM_000352.6:c.4527T>C MANE Select	NP_000343.2:p.Ala1509=
NM_001287174.2:c.4530T>C	NP_001274103.1:p.Ala1510=
NM_001351295.2:c.4593T>C	NP_001338224.1:p.Ala1531=
NM_001351296.2:c.4527T>C	NP_001338225.1:p.Ala1509=
NM_001351297.2:c.4524T>C	NP_001338226.1:p.Ala1508=
NR_147094.2:n.4822T>C
NM_001287174.3:c.4530T>C	NP_001274103.1:p.Ala1510=