Canonical Allele Identifier: CA473298177

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17416792T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395245T>A , CM000673.2:g.17395245T>A	GRCh38
NC_000011.9:g.17416792T>A , CM000673.1:g.17416792T>A	GRCh37
NC_000011.8:g.17373368T>A	NCBI36
NG_008867.1:g.86658A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3939A>T
ENST00000526037.6:n.273A>T
ENST00000528374.2:c.929A>T
ENST00000529967.6:n.2677A>T
ENST00000532220.2:n.3571A>T
ENST00000642611.2:n.5671A>T
ENST00000644057.2:n.914A>T
ENST00000645004.2:n.1837A>T
ENST00000682051.1:n.4500A>T
ENST00000682110.1:n.4553A>T
ENST00000682140.1:c.*124A>T	ENSP00000507829.1:n.*124A>T
ENST00000682185.1:n.5643A>T
ENST00000682204.1:c.*2476A>T	ENSP00000507094.1:n.*2476A>T
ENST00000682215.1:n.4920A>T
ENST00000682288.1:c.*2769A>T	ENSP00000507506.1:n.*2769A>T
ENST00000682442.1:n.4773A>T
ENST00000682528.1:n.4630A>T
ENST00000682673.1:n.4497A>T
ENST00000682805.1:n.4958A>T
ENST00000682965.1:c.*760A>T	ENSP00000508229.1:n.*760A>T
ENST00000683093.1:n.5606+365A>T
ENST00000683136.1:c.4221A>T	ENSP00000507768.1:p.Ser1407=
ENST00000683153.1:n.4595A>T
ENST00000683365.1:n.4655A>T
ENST00000683377.1:n.4522+365A>T
ENST00000683456.1:c.*1475A>T	ENSP00000508318.1:n.*1475A>T
ENST00000683522.1:n.4553A>T
ENST00000683562.1:c.*2476+365A>T	ENSP00000508265.1:n.*2476+365A>T
ENST00000683693.1:n.6087+365A>T
ENST00000683725.1:c.4307+365A>T	ENSP00000507496.1:n.4307+365A>T
ENST00000684010.1:n.4548A>T
ENST00000684157.1:n.5538A>T
ENST00000684253.1:n.4456A>T
ENST00000684288.1:c.*2510A>T	ENSP00000507143.1:n.*2510A>T
ENST00000684313.1:n.3985A>T
ENST00000684332.1:n.4626A>T
ENST00000684371.1:n.4659A>T
ENST00000684404.1:n.5581A>T
ENST00000684442.1:n.4777A>T
ENST00000684555.1:c.*2550A>T	ENSP00000507705.1:n.*2550A>T
ENST00000684571.1:c.4179A>T	ENSP00000506935.1:p.Ser1393=
ENST00000684593.1:c.*4043A>T	ENSP00000507005.1:n.*4043A>T
ENST00000684711.1:c.*2734A>T	ENSP00000506841.1:n.*2734A>T
ENST00000302539.9:c.4341A>T	ENSP00000303960.4:p.Ser1447=
ENST00000389817.8:c.4338A>T MANE Select	ENSP00000374467.4:p.Ser1446=
ENST00000642271.1:c.4335A>T	ENSP00000493749.1:p.Ser1445=
ENST00000642579.1:c.2392A>T
ENST00000642611.1:n.5556A>T
ENST00000642902.1:c.4120A>T
ENST00000643260.1:c.4338A>T	ENSP00000494450.1:p.Ser1446=
ENST00000643562.1:c.*2460A>T	ENSP00000496124.1:n.*2460A>T
ENST00000643925.1:c.2978A>T
ENST00000644057.1:n.415A>T
ENST00000644484.1:c.*3724A>T	ENSP00000493558.1:n.*3724A>T
ENST00000644675.1:c.*2510A>T	ENSP00000494567.1:n.*2510A>T
ENST00000644757.1:c.*3202+1019A>T	ENSP00000495085.1:n.*3202+1019A>T
ENST00000644772.1:c.4404A>T	ENSP00000494321.1:p.Ser1468=
ENST00000645004.1:n.2031A>T
ENST00000645076.1:c.3506+365A>T
ENST00000645417.1:c.1526A>T
ENST00000645744.1:c.*4023A>T	ENSP00000494564.1:n.*4023A>T
ENST00000645760.1:c.4759A>T
ENST00000645884.1:c.*1621A>T	ENSP00000495516.1:n.*1621A>T
ENST00000646003.1:c.*2360A>T	ENSP00000495259.1:n.*2360A>T
ENST00000646207.1:c.*3175A>T	ENSP00000495025.1:n.*3175A>T
ENST00000646276.1:c.*3742A>T	ENSP00000496070.1:n.*3742A>T
ENST00000646592.1:c.3644A>T
ENST00000646902.1:c.4305A>T	ENSP00000494101.1:p.Ser1435=
ENST00000646993.1:c.*2849+365A>T	ENSP00000493720.1:n.*2849+365A>T
ENST00000647013.1:c.4344A>T	ENSP00000496741.1:n.4344A>T
ENST00000647015.1:c.4089A>T	ENSP00000495389.1:p.Ser1363=
ENST00000647086.1:c.*3924A>T	ENSP00000493677.1:n.*3924A>T
ENST00000647158.1:c.*2625A>T	ENSP00000495744.1:n.*2625A>T
ENST00000302539.8:c.4341A>T	ENSP00000303960.4:p.Ser1447=
ENST00000389817.7:c.4338A>T	ENSP00000374467.3:p.Ser1446=
ENST00000525022.1:n.306+365A>T
ENST00000526037.5:n.171+365A>T
ENST00000526168.5:c.126A>T
ENST00000531642.5:c.369A>T
NM_000352.4:c.4338A>T	NP_000343.2:p.Ser1446=
NM_001287174.1:c.4341A>T	NP_001274103.1:p.Ser1447=
XM_011520331.1:c.4338A>T	XP_011518633.1:p.Ser1446=
XM_011520332.1:c.4310+365A>T	XP_011518634.1:n.4310+365A>T
XM_011520333.1:c.2838A>T	XP_011518635.1:p.Ser946=
XR_930890.1:n.4373+365A>T
NM_001351295.1:c.4404A>T	NP_001338224.1:p.Ser1468=
NM_001351296.1:c.4338A>T	NP_001338225.1:p.Ser1446=
NM_001351297.1:c.4335A>T	NP_001338226.1:p.Ser1445=
NR_147094.1:n.4633A>T
XM_017018197.2:c.4407A>T	XP_016873686.1:p.Ser1469=
XM_017018199.1:c.4404A>T	XP_016873688.1:p.Ser1468=
XM_017018201.2:c.4376+365A>T	XP_016873690.1:n.4376+365A>T
XM_017018202.1:c.2904A>T	XP_016873691.1:p.Ser968=
XM_017018204.1:c.2295A>T	XP_016873693.1:p.Ser765=
XM_024448668.1:c.2706A>T	XP_024304436.1:p.Ser902=
XR_001747945.2:n.4448+365A>T
XR_001747946.2:n.4379+365A>T
XR_002957189.1:n.6162+365A>T
NM_000352.6:c.4338A>T MANE Select	NP_000343.2:p.Ser1446=
NM_001287174.2:c.4341A>T	NP_001274103.1:p.Ser1447=
NM_001351295.2:c.4404A>T	NP_001338224.1:p.Ser1468=
NM_001351296.2:c.4338A>T	NP_001338225.1:p.Ser1446=
NM_001351297.2:c.4335A>T	NP_001338226.1:p.Ser1445=
NR_147094.2:n.4633A>T
NM_001287174.3:c.4341A>T	NP_001274103.1:p.Ser1447=