Canonical Allele Identifier: CA379782865

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415844T>G (hg19) ; chr11:g.17394297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394297T>G , CM000673.2:g.17394297T>G	GRCh38
NC_000011.9:g.17415844T>G , CM000673.1:g.17415844T>G	GRCh37
NC_000011.8:g.17372420T>G	NCBI36
NG_008867.1:g.87606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4115A>C
ENST00000526037.6:n.449A>C
ENST00000528374.2:c.1105A>C
ENST00000529967.6:n.2853A>C
ENST00000532220.2:n.3747A>C
ENST00000642611.2:n.5847A>C
ENST00000644057.2:n.1090A>C
ENST00000645004.2:n.2013A>C
ENST00000682051.1:n.4676A>C
ENST00000682110.1:n.4729A>C
ENST00000682140.1:c.*300A>C	ENSP00000507829.1:n.*300A>C
ENST00000682185.1:n.5819A>C
ENST00000682204.1:c.*2652A>C	ENSP00000507094.1:n.*2652A>C
ENST00000682215.1:n.5096A>C
ENST00000682288.1:c.*2945A>C	ENSP00000507506.1:n.*2945A>C
ENST00000682442.1:n.4949A>C
ENST00000682528.1:n.4806A>C
ENST00000682673.1:n.4673A>C
ENST00000682805.1:n.5134A>C
ENST00000682965.1:c.*936A>C	ENSP00000508229.1:n.*936A>C
ENST00000683093.1:n.5709A>C
ENST00000683136.1:c.4397A>C	ENSP00000507768.1:p.Asp1466Ala
ENST00000683153.1:n.4771A>C
ENST00000683365.1:n.4831A>C
ENST00000683377.1:n.4625A>C
ENST00000683456.1:c.*1651A>C	ENSP00000508318.1:n.*1651A>C
ENST00000683522.1:n.4811A>C
ENST00000683562.1:c.*2579A>C	ENSP00000508265.1:n.*2579A>C
ENST00000683693.1:n.6190A>C
ENST00000683725.1:c.4410A>C	ENSP00000507496.1:p.Gly1470=
ENST00000684010.1:n.4724A>C
ENST00000684014.1:n.701A>C
ENST00000684157.1:n.5714A>C
ENST00000684253.1:n.4632A>C
ENST00000684288.1:c.*2686A>C	ENSP00000507143.1:n.*2686A>C
ENST00000684313.1:n.4161A>C
ENST00000684332.1:n.4802A>C
ENST00000684371.1:n.4835A>C
ENST00000684404.1:n.5757A>C
ENST00000684442.1:n.4953A>C
ENST00000684555.1:c.*2726A>C	ENSP00000507705.1:n.*2726A>C
ENST00000684571.1:c.4355A>C	ENSP00000506935.1:p.Asp1452Ala
ENST00000684593.1:c.*4219A>C	ENSP00000507005.1:n.*4219A>C
ENST00000684711.1:c.*2910A>C	ENSP00000506841.1:n.*2910A>C
ENST00000302539.9:c.4517A>C	ENSP00000303960.4:p.Asp1506Ala
ENST00000389817.8:c.4514A>C MANE Select	ENSP00000374467.4:p.Asp1505Ala
ENST00000642271.1:c.4511A>C	ENSP00000493749.1:p.Asp1504Ala
ENST00000642579.1:c.2568A>C
ENST00000642611.1:n.5732A>C
ENST00000642902.1:c.4296A>C
ENST00000643260.1:c.4514A>C	ENSP00000494450.1:p.Asp1505Ala
ENST00000643562.1:c.*2636A>C	ENSP00000496124.1:n.*2636A>C
ENST00000643925.1:c.3154A>C
ENST00000644057.1:n.673A>C
ENST00000644484.1:c.*3900A>C	ENSP00000493558.1:n.*3900A>C
ENST00000644675.1:c.*2686A>C	ENSP00000494567.1:n.*2686A>C
ENST00000644757.1:c.*3203-1317A>C	ENSP00000495085.1:n.*3203-1317A>C
ENST00000644772.1:c.4580A>C	ENSP00000494321.1:p.Asp1527Ala
ENST00000645004.1:n.2207A>C
ENST00000645076.1:c.3609A>C
ENST00000645417.1:c.1702A>C
ENST00000645744.1:c.*4199A>C	ENSP00000494564.1:n.*4199A>C
ENST00000645760.1:c.4935A>C
ENST00000645884.1:c.*1797A>C	ENSP00000495516.1:n.*1797A>C
ENST00000646003.1:c.*2536A>C	ENSP00000495259.1:n.*2536A>C
ENST00000646207.1:c.*3351A>C	ENSP00000495025.1:n.*3351A>C
ENST00000646276.1:c.*3918A>C	ENSP00000496070.1:n.*3918A>C
ENST00000646592.1:c.3820A>C
ENST00000646902.1:c.4481A>C	ENSP00000494101.1:p.Asp1494Ala
ENST00000646993.1:c.*2952A>C	ENSP00000493720.1:n.*2952A>C
ENST00000647013.1:c.4520A>C	ENSP00000496741.1:n.4520A>C
ENST00000647015.1:c.4265A>C	ENSP00000495389.1:p.Asp1422Ala
ENST00000647086.1:c.*4100A>C	ENSP00000493677.1:n.*4100A>C
ENST00000647158.1:c.*2801A>C	ENSP00000495744.1:n.*2801A>C
ENST00000302539.8:c.4517A>C	ENSP00000303960.4:p.Asp1506Ala
ENST00000389817.7:c.4514A>C	ENSP00000374467.3:p.Asp1505Ala
ENST00000525022.1:n.409A>C
ENST00000526037.5:n.274A>C
ENST00000526168.5:c.302A>C
ENST00000531642.5:c.545A>C
NM_000352.4:c.4514A>C	NP_000343.2:p.Asp1505Ala
NM_001287174.1:c.4517A>C	NP_001274103.1:p.Asp1506Ala
XM_011520331.1:c.4514A>C	XP_011518633.1:p.Asp1505Ala
XM_011520332.1:c.4413A>C	XP_011518634.1:p.Gly1471=
XM_011520333.1:c.3014A>C	XP_011518635.1:p.Asp1005Ala
XR_930890.1:n.4476A>C
NM_001351295.1:c.4580A>C	NP_001338224.1:p.Asp1527Ala
NM_001351296.1:c.4514A>C	NP_001338225.1:p.Asp1505Ala
NM_001351297.1:c.4511A>C	NP_001338226.1:p.Asp1504Ala
NR_147094.1:n.4809A>C
XM_017018197.2:c.4583A>C	XP_016873686.1:p.Asp1528Ala
XM_017018199.1:c.4580A>C	XP_016873688.1:p.Asp1527Ala
XM_017018201.2:c.4479A>C	XP_016873690.1:p.Gly1493=
XM_017018202.1:c.3080A>C	XP_016873691.1:p.Asp1027Ala
XM_017018204.1:c.2471A>C	XP_016873693.1:p.Asp824Ala
XM_024448668.1:c.2882A>C	XP_024304436.1:p.Asp961Ala
XR_001747945.2:n.4551A>C
XR_001747946.2:n.4482A>C
XR_002957189.1:n.6265A>C
NM_000352.6:c.4514A>C MANE Select	NP_000343.2:p.Asp1505Ala
NM_001287174.2:c.4517A>C	NP_001274103.1:p.Asp1506Ala
NM_001351295.2:c.4580A>C	NP_001338224.1:p.Asp1527Ala
NM_001351296.2:c.4514A>C	NP_001338225.1:p.Asp1505Ala
NM_001351297.2:c.4511A>C	NP_001338226.1:p.Asp1504Ala
NR_147094.2:n.4809A>C
NM_001287174.3:c.4517A>C	NP_001274103.1:p.Asp1506Ala