Canonical Allele Identifier: CA379797729

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426098A>T (hg19) ; chr11:g.17404551A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404551A>T , CM000673.2:g.17404551A>T	GRCh38
NC_000011.9:g.17426098A>T , CM000673.1:g.17426098A>T	GRCh37
NC_000011.8:g.17382674A>T	NCBI36
NG_008867.1:g.77352T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3087T>A
ENST00000528374.2:c.97T>A
ENST00000529967.6:n.1857T>A
ENST00000532220.2:n.1250T>A
ENST00000642611.2:n.3587T>A
ENST00000645004.2:n.1017T>A
ENST00000682051.1:n.3534T>A
ENST00000682110.1:n.3587T>A
ENST00000682140.1:c.3515T>A	ENSP00000507829.1:p.Val1172Glu
ENST00000682185.1:n.4823T>A
ENST00000682204.1:c.*1656T>A	ENSP00000507094.1:n.*1656T>A
ENST00000682215.1:n.3584T>A
ENST00000682288.1:c.*1949T>A	ENSP00000507506.1:n.*1949T>A
ENST00000682442.1:n.3807T>A
ENST00000682528.1:n.3664T>A
ENST00000682673.1:n.3531T>A
ENST00000682805.1:n.3584T>A
ENST00000682965.1:c.3396+943T>A	ENSP00000508229.1:n.3396+943T>A
ENST00000683093.1:n.3686T>A
ENST00000683136.1:c.3515T>A	ENSP00000507768.1:p.Val1172Glu
ENST00000683153.1:n.3743T>A
ENST00000683365.1:n.3689T>A
ENST00000683377.1:n.3587T>A
ENST00000683456.1:c.*655T>A	ENSP00000508318.1:n.*655T>A
ENST00000683522.1:n.3587T>A
ENST00000683562.1:c.*1687T>A	ENSP00000508265.1:n.*1687T>A
ENST00000683693.1:n.3664T>A
ENST00000683725.1:c.3518T>A	ENSP00000507496.1:p.Val1173Glu
ENST00000684010.1:n.3582T>A
ENST00000684157.1:n.3587T>A
ENST00000684253.1:n.3490T>A
ENST00000684288.1:c.*1690T>A	ENSP00000507143.1:n.*1690T>A
ENST00000684313.1:n.3019T>A
ENST00000684332.1:n.3660T>A
ENST00000684371.1:n.3693T>A
ENST00000684404.1:n.3630T>A
ENST00000684442.1:n.3587T>A
ENST00000684555.1:c.*1730T>A	ENSP00000507705.1:n.*1730T>A
ENST00000684571.1:c.3359T>A	ENSP00000506935.1:p.Val1120Glu
ENST00000684593.1:c.*3223T>A	ENSP00000507005.1:n.*3223T>A
ENST00000684711.1:c.*1914T>A	ENSP00000506841.1:n.*1914T>A
ENST00000302539.9:c.3521T>A	ENSP00000303960.4:p.Val1174Glu
ENST00000389817.8:c.3518T>A MANE Select	ENSP00000374467.4:p.Val1173Glu
ENST00000642271.1:c.3515T>A	ENSP00000493749.1:p.Val1172Glu
ENST00000642579.1:c.1602T>A
ENST00000642611.1:n.3472T>A
ENST00000642902.1:c.3300T>A
ENST00000643260.1:c.3518T>A	ENSP00000494450.1:p.Val1173Glu
ENST00000643562.1:c.*1494T>A	ENSP00000496124.1:n.*1494T>A
ENST00000643925.1:c.1642T>A
ENST00000644447.1:c.1874T>A	ENSP00000496282.1:p.Val625Glu
ENST00000644484.1:c.*1773T>A	ENSP00000493558.1:n.*1773T>A
ENST00000644675.1:c.*1690T>A	ENSP00000494567.1:n.*1690T>A
ENST00000644757.1:c.*1803T>A	ENSP00000495085.1:n.*1803T>A
ENST00000644772.1:c.3584T>A	ENSP00000494321.1:p.Val1195Glu
ENST00000645004.1:n.657T>A
ENST00000645076.1:c.2717T>A
ENST00000645417.1:c.684T>A
ENST00000645744.1:c.*1782T>A	ENSP00000494564.1:n.*1782T>A
ENST00000645760.1:c.3793T>A
ENST00000645884.1:c.*655T>A	ENSP00000495516.1:n.*655T>A
ENST00000646003.1:c.*1474T>A	ENSP00000495259.1:n.*1474T>A
ENST00000646207.1:c.*1985T>A	ENSP00000495025.1:n.*1985T>A
ENST00000646276.1:c.*1791T>A	ENSP00000496070.1:n.*1791T>A
ENST00000646592.1:c.2824T>A
ENST00000646902.1:c.3515T>A	ENSP00000494101.1:p.Val1172Glu
ENST00000646993.1:c.*1914T>A	ENSP00000493720.1:n.*1914T>A
ENST00000647013.1:c.3524T>A	ENSP00000496741.1:n.3524T>A
ENST00000647015.1:c.3269T>A	ENSP00000495389.1:p.Val1090Glu
ENST00000647086.1:c.*3248T>A	ENSP00000493677.1:n.*3248T>A
ENST00000647158.1:c.*1659T>A	ENSP00000495744.1:n.*1659T>A
ENST00000302539.8:c.3521T>A	ENSP00000303960.4:p.Val1174Glu
ENST00000389817.7:c.3518T>A	ENSP00000374467.3:p.Val1173Glu
ENST00000524561.1:n.650T>A
ENST00000527905.5:c.*394T>A	ENSP00000431653.1:n.*394T>A
ENST00000531137.1:n.11T>A
NM_000352.4:c.3518T>A	NP_000343.2:p.Val1173Glu
NM_001287174.1:c.3521T>A	NP_001274103.1:p.Val1174Glu
XM_011520331.1:c.3518T>A	XP_011518633.1:p.Val1173Glu
XM_011520332.1:c.3521T>A	XP_011518634.1:p.Val1174Glu
XM_011520333.1:c.2018T>A	XP_011518635.1:p.Val673Glu
XR_930890.1:n.3584T>A
XR_930892.1:n.3484T>A
XR_930893.1:n.3481T>A
NM_001351295.1:c.3584T>A	NP_001338224.1:p.Val1195Glu
NM_001351296.1:c.3518T>A	NP_001338225.1:p.Val1173Glu
NM_001351297.1:c.3515T>A	NP_001338226.1:p.Val1172Glu
NR_147094.1:n.3667T>A
XM_017018197.2:c.3587T>A	XP_016873686.1:p.Val1196Glu
XM_017018199.1:c.3584T>A	XP_016873688.1:p.Val1195Glu
XM_017018201.2:c.3587T>A	XP_016873690.1:p.Val1196Glu
XM_017018202.1:c.2084T>A	XP_016873691.1:p.Val695Glu
XM_017018204.1:c.1475T>A	XP_016873693.1:p.Val492Glu
XM_024448668.1:c.1886T>A	XP_024304436.1:p.Val629Glu
XR_001747945.2:n.3659T>A
XR_001747946.2:n.3590T>A
XR_002957189.1:n.3739T>A
NM_000352.6:c.3518T>A MANE Select	NP_000343.2:p.Val1173Glu
NM_001287174.2:c.3521T>A	NP_001274103.1:p.Val1174Glu
NM_001351295.2:c.3584T>A	NP_001338224.1:p.Val1195Glu
NM_001351296.2:c.3518T>A	NP_001338225.1:p.Val1173Glu
NM_001351297.2:c.3515T>A	NP_001338226.1:p.Val1172Glu
NR_147094.2:n.3667T>A
NM_001287174.3:c.3521T>A	NP_001274103.1:p.Val1174Glu