Canonical Allele Identifier: CA379787025

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395691-A-G
• MyVariant Identifiers: chr11:g.17417238A>G (hg19) ; chr11:g.17395691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395691A>G , CM000673.2:g.17395691A>G	GRCh38
NC_000011.9:g.17417238A>G , CM000673.1:g.17417238A>G	GRCh37
NC_000011.8:g.17373814A>G	NCBI36
NG_008867.1:g.86212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3827T>C
ENST00000528374.2:c.817T>C
ENST00000529967.6:n.2565T>C
ENST00000532220.2:n.3459T>C
ENST00000642611.2:n.5559T>C
ENST00000644057.2:n.802T>C
ENST00000645004.2:n.1725T>C
ENST00000682051.1:n.4388T>C
ENST00000682110.1:n.4441T>C
ENST00000682140.1:c.*12T>C	ENSP00000507829.1:n.*12T>C
ENST00000682185.1:n.5531T>C
ENST00000682204.1:c.*2364T>C	ENSP00000507094.1:n.*2364T>C
ENST00000682215.1:n.4808T>C
ENST00000682288.1:c.*2657T>C	ENSP00000507506.1:n.*2657T>C
ENST00000682442.1:n.4661T>C
ENST00000682528.1:n.4518T>C
ENST00000682673.1:n.4385T>C
ENST00000682805.1:n.4846T>C
ENST00000682965.1:c.*648T>C	ENSP00000508229.1:n.*648T>C
ENST00000683093.1:n.5525T>C
ENST00000683136.1:c.4109T>C	ENSP00000507768.1:p.Ile1370Thr
ENST00000683153.1:n.4483T>C
ENST00000683365.1:n.4543T>C
ENST00000683377.1:n.4441T>C
ENST00000683456.1:c.*1363T>C	ENSP00000508318.1:n.*1363T>C
ENST00000683522.1:n.4441T>C
ENST00000683562.1:c.*2395T>C	ENSP00000508265.1:n.*2395T>C
ENST00000683693.1:n.6006T>C
ENST00000683725.1:c.4226T>C	ENSP00000507496.1:p.Ile1409Thr
ENST00000684010.1:n.4436T>C
ENST00000684157.1:n.5426T>C
ENST00000684253.1:n.4344T>C
ENST00000684288.1:c.*2398T>C	ENSP00000507143.1:n.*2398T>C
ENST00000684313.1:n.3873T>C
ENST00000684332.1:n.4514T>C
ENST00000684371.1:n.4547T>C
ENST00000684404.1:n.5469T>C
ENST00000684442.1:n.4665T>C
ENST00000684555.1:c.*2438T>C	ENSP00000507705.1:n.*2438T>C
ENST00000684571.1:c.4067T>C	ENSP00000506935.1:p.Ile1356Thr
ENST00000684593.1:c.*3931T>C	ENSP00000507005.1:n.*3931T>C
ENST00000684711.1:c.*2622T>C	ENSP00000506841.1:n.*2622T>C
ENST00000302539.9:c.4229T>C	ENSP00000303960.4:p.Ile1410Thr
ENST00000389817.8:c.4226T>C MANE Select	ENSP00000374467.4:p.Ile1409Thr
ENST00000642271.1:c.4223T>C	ENSP00000493749.1:p.Ile1408Thr
ENST00000642579.1:c.2280T>C
ENST00000642611.1:n.5444T>C
ENST00000642902.1:c.4008T>C
ENST00000643260.1:c.4226T>C	ENSP00000494450.1:p.Ile1409Thr
ENST00000643562.1:c.*2348T>C	ENSP00000496124.1:n.*2348T>C
ENST00000643925.1:c.2866T>C
ENST00000644057.1:n.303T>C
ENST00000644484.1:c.*3612T>C	ENSP00000493558.1:n.*3612T>C
ENST00000644675.1:c.*2398T>C	ENSP00000494567.1:n.*2398T>C
ENST00000644757.1:c.*3202+573T>C	ENSP00000495085.1:n.*3202+573T>C
ENST00000644772.1:c.4292T>C	ENSP00000494321.1:p.Ile1431Thr
ENST00000645004.1:n.1919T>C
ENST00000645076.1:c.3425T>C
ENST00000645417.1:c.1414T>C
ENST00000645744.1:c.*3964-53T>C	ENSP00000494564.1:n.*3964-53T>C
ENST00000645760.1:c.4647T>C
ENST00000645884.1:c.*1509T>C	ENSP00000495516.1:n.*1509T>C
ENST00000646003.1:c.*2301-53T>C	ENSP00000495259.1:n.*2301-53T>C
ENST00000646207.1:c.*3063T>C	ENSP00000495025.1:n.*3063T>C
ENST00000646276.1:c.*3630T>C	ENSP00000496070.1:n.*3630T>C
ENST00000646592.1:c.3532T>C
ENST00000646902.1:c.4193T>C	ENSP00000494101.1:p.Ile1398Thr
ENST00000646993.1:c.*2768T>C	ENSP00000493720.1:n.*2768T>C
ENST00000647013.1:c.4232T>C	ENSP00000496741.1:n.4232T>C
ENST00000647015.1:c.3977T>C	ENSP00000495389.1:p.Ile1326Thr
ENST00000647086.1:c.*3812T>C	ENSP00000493677.1:n.*3812T>C
ENST00000647158.1:c.*2513T>C	ENSP00000495744.1:n.*2513T>C
ENST00000302539.8:c.4229T>C	ENSP00000303960.4:p.Ile1410Thr
ENST00000389817.7:c.4226T>C	ENSP00000374467.3:p.Ile1409Thr
ENST00000525022.1:n.225T>C
ENST00000526037.5:n.90T>C
ENST00000526168.5:c.67-53T>C
ENST00000531642.5:c.62T>C
NM_000352.4:c.4226T>C	NP_000343.2:p.Ile1409Thr
NM_001287174.1:c.4229T>C	NP_001274103.1:p.Ile1410Thr
XM_011520331.1:c.4226T>C	XP_011518633.1:p.Ile1409Thr
XM_011520332.1:c.4229T>C	XP_011518634.1:p.Ile1410Thr
XM_011520333.1:c.2726T>C	XP_011518635.1:p.Ile909Thr
XR_930890.1:n.4292T>C
NM_001351295.1:c.4292T>C	NP_001338224.1:p.Ile1431Thr
NM_001351296.1:c.4226T>C	NP_001338225.1:p.Ile1409Thr
NM_001351297.1:c.4223T>C	NP_001338226.1:p.Ile1408Thr
NR_147094.1:n.4521T>C
XM_017018197.2:c.4295T>C	XP_016873686.1:p.Ile1432Thr
XM_017018199.1:c.4292T>C	XP_016873688.1:p.Ile1431Thr
XM_017018201.2:c.4295T>C	XP_016873690.1:p.Ile1432Thr
XM_017018202.1:c.2792T>C	XP_016873691.1:p.Ile931Thr
XM_017018204.1:c.2183T>C	XP_016873693.1:p.Ile728Thr
XM_024448668.1:c.2594T>C	XP_024304436.1:p.Ile865Thr
XR_001747945.2:n.4367T>C
XR_001747946.2:n.4298T>C
XR_002957189.1:n.6081T>C
NM_000352.6:c.4226T>C MANE Select	NP_000343.2:p.Ile1409Thr
NM_001287174.2:c.4229T>C	NP_001274103.1:p.Ile1410Thr
NM_001351295.2:c.4292T>C	NP_001338224.1:p.Ile1431Thr
NM_001351296.2:c.4226T>C	NP_001338225.1:p.Ile1409Thr
NM_001351297.2:c.4223T>C	NP_001338226.1:p.Ile1408Thr
NR_147094.2:n.4521T>C
NM_001287174.3:c.4229T>C	NP_001274103.1:p.Ile1410Thr