Canonical Allele Identifier: CA379798535

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426189T>A (hg19) ; chr11:g.17404642T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404642T>A , CM000673.2:g.17404642T>A	GRCh38
NC_000011.9:g.17426189T>A , CM000673.1:g.17426189T>A	GRCh37
NC_000011.8:g.17382765T>A	NCBI36
NG_008867.1:g.77261A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2996A>T
ENST00000528374.2:c.6A>T
ENST00000529967.6:n.1766A>T
ENST00000532220.2:n.1159A>T
ENST00000642611.2:n.3496A>T
ENST00000645004.2:n.926A>T
ENST00000682051.1:n.3443A>T
ENST00000682110.1:n.3496A>T
ENST00000682140.1:c.3424A>T	ENSP00000507829.1:p.Ser1142Cys
ENST00000682185.1:n.4732A>T
ENST00000682204.1:c.*1565A>T	ENSP00000507094.1:n.*1565A>T
ENST00000682215.1:n.3493A>T
ENST00000682288.1:c.*1858A>T	ENSP00000507506.1:n.*1858A>T
ENST00000682442.1:n.3716A>T
ENST00000682528.1:n.3573A>T
ENST00000682673.1:n.3440A>T
ENST00000682805.1:n.3493A>T
ENST00000682965.1:c.3396+852A>T	ENSP00000508229.1:n.3396+852A>T
ENST00000683093.1:n.3595A>T
ENST00000683136.1:c.3424A>T	ENSP00000507768.1:p.Ser1142Cys
ENST00000683153.1:n.3652A>T
ENST00000683365.1:n.3598A>T
ENST00000683377.1:n.3496A>T
ENST00000683456.1:c.*564A>T	ENSP00000508318.1:n.*564A>T
ENST00000683522.1:n.3496A>T
ENST00000683562.1:c.*1596A>T	ENSP00000508265.1:n.*1596A>T
ENST00000683693.1:n.3573A>T
ENST00000683725.1:c.3427A>T	ENSP00000507496.1:p.Ser1143Cys
ENST00000684010.1:n.3491A>T
ENST00000684157.1:n.3496A>T
ENST00000684253.1:n.3399A>T
ENST00000684288.1:c.*1599A>T	ENSP00000507143.1:n.*1599A>T
ENST00000684313.1:n.2928A>T
ENST00000684332.1:n.3569A>T
ENST00000684371.1:n.3602A>T
ENST00000684404.1:n.3539A>T
ENST00000684442.1:n.3496A>T
ENST00000684555.1:c.*1639A>T	ENSP00000507705.1:n.*1639A>T
ENST00000684571.1:c.3268A>T	ENSP00000506935.1:p.Ser1090Cys
ENST00000684593.1:c.*3132A>T	ENSP00000507005.1:n.*3132A>T
ENST00000684711.1:c.*1823A>T	ENSP00000506841.1:n.*1823A>T
ENST00000302539.9:c.3430A>T	ENSP00000303960.4:p.Ser1144Cys
ENST00000389817.8:c.3427A>T MANE Select	ENSP00000374467.4:p.Ser1143Cys
ENST00000642271.1:c.3424A>T	ENSP00000493749.1:p.Ser1142Cys
ENST00000642579.1:c.1511A>T
ENST00000642611.1:n.3381A>T
ENST00000642902.1:c.3209A>T
ENST00000643260.1:c.3427A>T	ENSP00000494450.1:p.Ser1143Cys
ENST00000643562.1:c.*1403A>T	ENSP00000496124.1:n.*1403A>T
ENST00000643925.1:c.1551A>T
ENST00000644447.1:c.1783A>T	ENSP00000496282.1:p.Ser595Cys
ENST00000644484.1:c.*1682A>T	ENSP00000493558.1:n.*1682A>T
ENST00000644675.1:c.*1599A>T	ENSP00000494567.1:n.*1599A>T
ENST00000644757.1:c.*1712A>T	ENSP00000495085.1:n.*1712A>T
ENST00000644772.1:c.3493A>T	ENSP00000494321.1:p.Ser1165Cys
ENST00000645004.1:n.566A>T
ENST00000645076.1:c.2626A>T
ENST00000645417.1:c.593A>T
ENST00000645744.1:c.*1691A>T	ENSP00000494564.1:n.*1691A>T
ENST00000645760.1:c.3702A>T
ENST00000645884.1:c.*564A>T	ENSP00000495516.1:n.*564A>T
ENST00000646003.1:c.*1383A>T	ENSP00000495259.1:n.*1383A>T
ENST00000646207.1:c.*1894A>T	ENSP00000495025.1:n.*1894A>T
ENST00000646276.1:c.*1700A>T	ENSP00000496070.1:n.*1700A>T
ENST00000646592.1:c.2733A>T
ENST00000646902.1:c.3424A>T	ENSP00000494101.1:p.Ser1142Cys
ENST00000646993.1:c.*1823A>T	ENSP00000493720.1:n.*1823A>T
ENST00000647013.1:c.3433A>T	ENSP00000496741.1:n.3433A>T
ENST00000647015.1:c.3178A>T	ENSP00000495389.1:p.Ser1060Cys
ENST00000647086.1:c.*3157A>T	ENSP00000493677.1:n.*3157A>T
ENST00000647158.1:c.*1568A>T	ENSP00000495744.1:n.*1568A>T
ENST00000302539.8:c.3430A>T	ENSP00000303960.4:p.Ser1144Cys
ENST00000389817.7:c.3427A>T	ENSP00000374467.3:p.Ser1143Cys
ENST00000524561.1:n.559A>T
ENST00000527905.5:c.*303A>T	ENSP00000431653.1:n.*303A>T
NM_000352.4:c.3427A>T	NP_000343.2:p.Ser1143Cys
NM_001287174.1:c.3430A>T	NP_001274103.1:p.Ser1144Cys
XM_011520331.1:c.3427A>T	XP_011518633.1:p.Ser1143Cys
XM_011520332.1:c.3430A>T	XP_011518634.1:p.Ser1144Cys
XM_011520333.1:c.1927A>T	XP_011518635.1:p.Ser643Cys
XR_930890.1:n.3493A>T
XR_930892.1:n.3393A>T
XR_930893.1:n.3390A>T
NM_001351295.1:c.3493A>T	NP_001338224.1:p.Ser1165Cys
NM_001351296.1:c.3427A>T	NP_001338225.1:p.Ser1143Cys
NM_001351297.1:c.3424A>T	NP_001338226.1:p.Ser1142Cys
NR_147094.1:n.3576A>T
XM_017018197.2:c.3496A>T	XP_016873686.1:p.Ser1166Cys
XM_017018199.1:c.3493A>T	XP_016873688.1:p.Ser1165Cys
XM_017018201.2:c.3496A>T	XP_016873690.1:p.Ser1166Cys
XM_017018202.1:c.1993A>T	XP_016873691.1:p.Ser665Cys
XM_017018204.1:c.1384A>T	XP_016873693.1:p.Ser462Cys
XM_024448668.1:c.1795A>T	XP_024304436.1:p.Ser599Cys
XR_001747945.2:n.3568A>T
XR_001747946.2:n.3499A>T
XR_002957189.1:n.3648A>T
NM_000352.6:c.3427A>T MANE Select	NP_000343.2:p.Ser1143Cys
NM_001287174.2:c.3430A>T	NP_001274103.1:p.Ser1144Cys
NM_001351295.2:c.3493A>T	NP_001338224.1:p.Ser1165Cys
NM_001351296.2:c.3427A>T	NP_001338225.1:p.Ser1143Cys
NM_001351297.2:c.3424A>T	NP_001338226.1:p.Ser1142Cys
NR_147094.2:n.3576A>T
NM_001287174.3:c.3430A>T	NP_001274103.1:p.Ser1144Cys