Canonical Allele Identifier: CA473298032

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415277T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393730T>A , CM000673.2:g.17393730T>A	GRCh38
NC_000011.9:g.17415277T>A , CM000673.1:g.17415277T>A	GRCh37
NC_000011.8:g.17371853T>A	NCBI36
NG_008867.1:g.88173A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4176A>T
ENST00000526037.6:n.510A>T
ENST00000528374.2:c.1166A>T
ENST00000529967.6:n.2914A>T
ENST00000532220.2:n.3808A>T
ENST00000642611.2:n.5908A>T
ENST00000644057.2:n.1151A>T
ENST00000645004.2:n.2074A>T
ENST00000682051.1:n.4737A>T
ENST00000682110.1:n.4790A>T
ENST00000682140.1:c.*361A>T	ENSP00000507829.1:n.*361A>T
ENST00000682185.1:n.5880A>T
ENST00000682204.1:c.*2713A>T	ENSP00000507094.1:n.*2713A>T
ENST00000682215.1:n.5157A>T
ENST00000682288.1:c.*3006A>T	ENSP00000507506.1:n.*3006A>T
ENST00000682442.1:n.5010A>T
ENST00000682528.1:n.4867A>T
ENST00000682673.1:n.4734A>T
ENST00000682805.1:n.5195A>T
ENST00000682965.1:c.*997A>T	ENSP00000508229.1:n.*997A>T
ENST00000683093.1:n.5770A>T
ENST00000683136.1:c.4458A>T	ENSP00000507768.1:p.Thr1486=
ENST00000683153.1:n.4832A>T
ENST00000683365.1:n.4892A>T
ENST00000683377.1:n.4686A>T
ENST00000683456.1:c.*1712A>T	ENSP00000508318.1:n.*1712A>T
ENST00000683522.1:n.4872A>T
ENST00000683562.1:c.*2640A>T	ENSP00000508265.1:n.*2640A>T
ENST00000683693.1:n.6251A>T
ENST00000683725.1:c.*40A>T	ENSP00000507496.1:n.*40A>T
ENST00000684010.1:n.4785A>T
ENST00000684014.1:n.762A>T
ENST00000684157.1:n.5775A>T
ENST00000684253.1:n.4693A>T
ENST00000684288.1:c.*2747A>T	ENSP00000507143.1:n.*2747A>T
ENST00000684313.1:n.4222A>T
ENST00000684332.1:n.4863A>T
ENST00000684371.1:n.4896A>T
ENST00000684404.1:n.5818A>T
ENST00000684442.1:n.5014A>T
ENST00000684555.1:c.*2787A>T	ENSP00000507705.1:n.*2787A>T
ENST00000684571.1:c.4416A>T	ENSP00000506935.1:p.Thr1472=
ENST00000684593.1:c.*4280A>T	ENSP00000507005.1:n.*4280A>T
ENST00000684711.1:c.*2971A>T	ENSP00000506841.1:n.*2971A>T
ENST00000302539.9:c.4578A>T	ENSP00000303960.4:p.Thr1526=
ENST00000389817.8:c.4575A>T MANE Select	ENSP00000374467.4:p.Thr1525=
ENST00000642271.1:c.4572A>T	ENSP00000493749.1:p.Thr1524=
ENST00000642579.1:c.2629A>T
ENST00000642611.1:n.5793A>T
ENST00000642902.1:c.4357A>T
ENST00000643260.1:c.4575A>T	ENSP00000494450.1:p.Thr1525=
ENST00000643562.1:c.*2697A>T	ENSP00000496124.1:n.*2697A>T
ENST00000643925.1:c.3185+536A>T
ENST00000644057.1:n.734A>T
ENST00000644484.1:c.*3961A>T	ENSP00000493558.1:n.*3961A>T
ENST00000644675.1:c.*2747A>T	ENSP00000494567.1:n.*2747A>T
ENST00000644757.1:c.*3203-750A>T	ENSP00000495085.1:n.*3203-750A>T
ENST00000644772.1:c.4641A>T	ENSP00000494321.1:p.Thr1547=
ENST00000645004.1:n.2268A>T
ENST00000645076.1:c.3670A>T
ENST00000645417.1:c.1763A>T
ENST00000645744.1:c.*4260A>T	ENSP00000494564.1:n.*4260A>T
ENST00000645760.1:c.4996A>T
ENST00000645884.1:c.*1858A>T	ENSP00000495516.1:n.*1858A>T
ENST00000646003.1:c.*2597A>T	ENSP00000495259.1:n.*2597A>T
ENST00000646207.1:c.*3412A>T	ENSP00000495025.1:n.*3412A>T
ENST00000646276.1:c.*3979A>T	ENSP00000496070.1:n.*3979A>T
ENST00000646592.1:c.3881A>T
ENST00000646902.1:c.4542A>T	ENSP00000494101.1:p.Thr1514=
ENST00000646993.1:c.*3013A>T	ENSP00000493720.1:n.*3013A>T
ENST00000647015.1:c.4326A>T	ENSP00000495389.1:p.Thr1442=
ENST00000647086.1:c.*4161A>T	ENSP00000493677.1:n.*4161A>T
ENST00000647158.1:c.*2862A>T	ENSP00000495744.1:n.*2862A>T
ENST00000302539.8:c.4578A>T	ENSP00000303960.4:p.Thr1526=
ENST00000389817.7:c.4575A>T	ENSP00000374467.3:p.Thr1525=
ENST00000525022.1:n.470A>T
ENST00000526037.5:n.335A>T
ENST00000526168.5:c.363A>T
ENST00000531642.5:c.606A>T
NM_000352.4:c.4575A>T	NP_000343.2:p.Thr1525=
NM_001287174.1:c.4578A>T	NP_001274103.1:p.Thr1526=
XM_011520331.1:c.4575A>T	XP_011518633.1:p.Thr1525=
XM_011520333.1:c.3075A>T	XP_011518635.1:p.Thr1025=
XR_930890.1:n.4537A>T
NM_001351295.1:c.4641A>T	NP_001338224.1:p.Thr1547=
NM_001351296.1:c.4575A>T	NP_001338225.1:p.Thr1525=
NM_001351297.1:c.4572A>T	NP_001338226.1:p.Thr1524=
NR_147094.1:n.4870A>T
XM_017018197.2:c.4644A>T	XP_016873686.1:p.Thr1548=
XM_017018199.1:c.4641A>T	XP_016873688.1:p.Thr1547=
XM_017018202.1:c.3141A>T	XP_016873691.1:p.Thr1047=
XM_017018204.1:c.2532A>T	XP_016873693.1:p.Thr844=
XM_024448668.1:c.2943A>T	XP_024304436.1:p.Thr981=
XR_001747945.2:n.4612A>T
XR_001747946.2:n.4543A>T
XR_002957189.1:n.6326A>T
NM_000352.6:c.4575A>T MANE Select	NP_000343.2:p.Thr1525=
NM_001287174.2:c.4578A>T	NP_001274103.1:p.Thr1526=
NM_001351295.2:c.4641A>T	NP_001338224.1:p.Thr1547=
NM_001351296.2:c.4575A>T	NP_001338225.1:p.Thr1525=
NM_001351297.2:c.4572A>T	NP_001338226.1:p.Thr1524=
NR_147094.2:n.4870A>T
NM_001287174.3:c.4578A>T	NP_001274103.1:p.Thr1526=