Canonical Allele Identifier: CA379798554

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426191A>T (hg19) ; chr11:g.17404644A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404644A>T , CM000673.2:g.17404644A>T	GRCh38
NC_000011.9:g.17426191A>T , CM000673.1:g.17426191A>T	GRCh37
NC_000011.8:g.17382767A>T	NCBI36
NG_008867.1:g.77259T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2994T>A
ENST00000528374.2:c.4T>A
ENST00000529967.6:n.1764T>A
ENST00000532220.2:n.1157T>A
ENST00000642611.2:n.3494T>A
ENST00000645004.2:n.924T>A
ENST00000682051.1:n.3441T>A
ENST00000682110.1:n.3494T>A
ENST00000682140.1:c.3422T>A	ENSP00000507829.1:p.Leu1141Gln
ENST00000682185.1:n.4730T>A
ENST00000682204.1:c.*1563T>A	ENSP00000507094.1:n.*1563T>A
ENST00000682215.1:n.3491T>A
ENST00000682288.1:c.*1856T>A	ENSP00000507506.1:n.*1856T>A
ENST00000682442.1:n.3714T>A
ENST00000682528.1:n.3571T>A
ENST00000682673.1:n.3438T>A
ENST00000682805.1:n.3491T>A
ENST00000682965.1:c.3396+850T>A	ENSP00000508229.1:n.3396+850T>A
ENST00000683093.1:n.3593T>A
ENST00000683136.1:c.3422T>A	ENSP00000507768.1:p.Leu1141Gln
ENST00000683153.1:n.3650T>A
ENST00000683365.1:n.3596T>A
ENST00000683377.1:n.3494T>A
ENST00000683456.1:c.*562T>A	ENSP00000508318.1:n.*562T>A
ENST00000683522.1:n.3494T>A
ENST00000683562.1:c.*1594T>A	ENSP00000508265.1:n.*1594T>A
ENST00000683693.1:n.3571T>A
ENST00000683725.1:c.3425T>A	ENSP00000507496.1:p.Leu1142Gln
ENST00000684010.1:n.3489T>A
ENST00000684157.1:n.3494T>A
ENST00000684253.1:n.3397T>A
ENST00000684288.1:c.*1597T>A	ENSP00000507143.1:n.*1597T>A
ENST00000684313.1:n.2926T>A
ENST00000684332.1:n.3567T>A
ENST00000684371.1:n.3600T>A
ENST00000684404.1:n.3537T>A
ENST00000684442.1:n.3494T>A
ENST00000684555.1:c.*1637T>A	ENSP00000507705.1:n.*1637T>A
ENST00000684571.1:c.3266T>A	ENSP00000506935.1:p.Leu1089Gln
ENST00000684593.1:c.*3130T>A	ENSP00000507005.1:n.*3130T>A
ENST00000684711.1:c.*1821T>A	ENSP00000506841.1:n.*1821T>A
ENST00000302539.9:c.3428T>A	ENSP00000303960.4:p.Leu1143Gln
ENST00000389817.8:c.3425T>A MANE Select	ENSP00000374467.4:p.Leu1142Gln
ENST00000642271.1:c.3422T>A	ENSP00000493749.1:p.Leu1141Gln
ENST00000642579.1:c.1509T>A
ENST00000642611.1:n.3379T>A
ENST00000642902.1:c.3207T>A
ENST00000643260.1:c.3425T>A	ENSP00000494450.1:p.Leu1142Gln
ENST00000643562.1:c.*1401T>A	ENSP00000496124.1:n.*1401T>A
ENST00000643925.1:c.1549T>A
ENST00000644447.1:c.1781T>A	ENSP00000496282.1:p.Leu594Gln
ENST00000644484.1:c.*1680T>A	ENSP00000493558.1:n.*1680T>A
ENST00000644675.1:c.*1597T>A	ENSP00000494567.1:n.*1597T>A
ENST00000644757.1:c.*1710T>A	ENSP00000495085.1:n.*1710T>A
ENST00000644772.1:c.3491T>A	ENSP00000494321.1:p.Leu1164Gln
ENST00000645004.1:n.564T>A
ENST00000645076.1:c.2624T>A
ENST00000645417.1:c.591T>A
ENST00000645744.1:c.*1689T>A	ENSP00000494564.1:n.*1689T>A
ENST00000645760.1:c.3700T>A
ENST00000645884.1:c.*562T>A	ENSP00000495516.1:n.*562T>A
ENST00000646003.1:c.*1381T>A	ENSP00000495259.1:n.*1381T>A
ENST00000646207.1:c.*1892T>A	ENSP00000495025.1:n.*1892T>A
ENST00000646276.1:c.*1698T>A	ENSP00000496070.1:n.*1698T>A
ENST00000646592.1:c.2731T>A
ENST00000646902.1:c.3422T>A	ENSP00000494101.1:p.Leu1141Gln
ENST00000646993.1:c.*1821T>A	ENSP00000493720.1:n.*1821T>A
ENST00000647013.1:c.3431T>A	ENSP00000496741.1:n.3431T>A
ENST00000647015.1:c.3176T>A	ENSP00000495389.1:p.Leu1059Gln
ENST00000647086.1:c.*3155T>A	ENSP00000493677.1:n.*3155T>A
ENST00000647158.1:c.*1566T>A	ENSP00000495744.1:n.*1566T>A
ENST00000302539.8:c.3428T>A	ENSP00000303960.4:p.Leu1143Gln
ENST00000389817.7:c.3425T>A	ENSP00000374467.3:p.Leu1142Gln
ENST00000524561.1:n.557T>A
ENST00000527905.5:c.*301T>A	ENSP00000431653.1:n.*301T>A
NM_000352.4:c.3425T>A	NP_000343.2:p.Leu1142Gln
NM_001287174.1:c.3428T>A	NP_001274103.1:p.Leu1143Gln
XM_011520331.1:c.3425T>A	XP_011518633.1:p.Leu1142Gln
XM_011520332.1:c.3428T>A	XP_011518634.1:p.Leu1143Gln
XM_011520333.1:c.1925T>A	XP_011518635.1:p.Leu642Gln
XR_930890.1:n.3491T>A
XR_930892.1:n.3391T>A
XR_930893.1:n.3388T>A
NM_001351295.1:c.3491T>A	NP_001338224.1:p.Leu1164Gln
NM_001351296.1:c.3425T>A	NP_001338225.1:p.Leu1142Gln
NM_001351297.1:c.3422T>A	NP_001338226.1:p.Leu1141Gln
NR_147094.1:n.3574T>A
XM_017018197.2:c.3494T>A	XP_016873686.1:p.Leu1165Gln
XM_017018199.1:c.3491T>A	XP_016873688.1:p.Leu1164Gln
XM_017018201.2:c.3494T>A	XP_016873690.1:p.Leu1165Gln
XM_017018202.1:c.1991T>A	XP_016873691.1:p.Leu664Gln
XM_017018204.1:c.1382T>A	XP_016873693.1:p.Leu461Gln
XM_024448668.1:c.1793T>A	XP_024304436.1:p.Leu598Gln
XR_001747945.2:n.3566T>A
XR_001747946.2:n.3497T>A
XR_002957189.1:n.3646T>A
NM_000352.6:c.3425T>A MANE Select	NP_000343.2:p.Leu1142Gln
NM_001287174.2:c.3428T>A	NP_001274103.1:p.Leu1143Gln
NM_001351295.2:c.3491T>A	NP_001338224.1:p.Leu1164Gln
NM_001351296.2:c.3425T>A	NP_001338225.1:p.Leu1142Gln
NM_001351297.2:c.3422T>A	NP_001338226.1:p.Leu1141Gln
NR_147094.2:n.3574T>A
NM_001287174.3:c.3428T>A	NP_001274103.1:p.Leu1143Gln