Canonical Allele Identifier: CA379782796

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415832G>T (hg19) ; chr11:g.17394285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394285G>T , CM000673.2:g.17394285G>T	GRCh38
NC_000011.9:g.17415832G>T , CM000673.1:g.17415832G>T	GRCh37
NC_000011.8:g.17372408G>T	NCBI36
NG_008867.1:g.87618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4127C>A
ENST00000526037.6:n.461C>A
ENST00000528374.2:c.1117C>A
ENST00000529967.6:n.2865C>A
ENST00000532220.2:n.3759C>A
ENST00000642611.2:n.5859C>A
ENST00000644057.2:n.1102C>A
ENST00000645004.2:n.2025C>A
ENST00000682051.1:n.4688C>A
ENST00000682110.1:n.4741C>A
ENST00000682140.1:c.*312C>A	ENSP00000507829.1:n.*312C>A
ENST00000682185.1:n.5831C>A
ENST00000682204.1:c.*2664C>A	ENSP00000507094.1:n.*2664C>A
ENST00000682215.1:n.5108C>A
ENST00000682288.1:c.*2957C>A	ENSP00000507506.1:n.*2957C>A
ENST00000682442.1:n.4961C>A
ENST00000682528.1:n.4818C>A
ENST00000682673.1:n.4685C>A
ENST00000682805.1:n.5146C>A
ENST00000682965.1:c.*948C>A	ENSP00000508229.1:n.*948C>A
ENST00000683093.1:n.5721C>A
ENST00000683136.1:c.4409C>A	ENSP00000507768.1:p.Ala1470Asp
ENST00000683153.1:n.4783C>A
ENST00000683365.1:n.4843C>A
ENST00000683377.1:n.4637C>A
ENST00000683456.1:c.*1663C>A	ENSP00000508318.1:n.*1663C>A
ENST00000683522.1:n.4823C>A
ENST00000683562.1:c.*2591C>A	ENSP00000508265.1:n.*2591C>A
ENST00000683693.1:n.6202C>A
ENST00000683725.1:c.4422C>A	ENSP00000507496.1:p.Gly1474=
ENST00000684010.1:n.4736C>A
ENST00000684014.1:n.713C>A
ENST00000684157.1:n.5726C>A
ENST00000684253.1:n.4644C>A
ENST00000684288.1:c.*2698C>A	ENSP00000507143.1:n.*2698C>A
ENST00000684313.1:n.4173C>A
ENST00000684332.1:n.4814C>A
ENST00000684371.1:n.4847C>A
ENST00000684404.1:n.5769C>A
ENST00000684442.1:n.4965C>A
ENST00000684555.1:c.*2738C>A	ENSP00000507705.1:n.*2738C>A
ENST00000684571.1:c.4367C>A	ENSP00000506935.1:p.Ala1456Asp
ENST00000684593.1:c.*4231C>A	ENSP00000507005.1:n.*4231C>A
ENST00000684711.1:c.*2922C>A	ENSP00000506841.1:n.*2922C>A
ENST00000302539.9:c.4529C>A	ENSP00000303960.4:p.Ala1510Asp
ENST00000389817.8:c.4526C>A MANE Select	ENSP00000374467.4:p.Ala1509Asp
ENST00000642271.1:c.4523C>A	ENSP00000493749.1:p.Ala1508Asp
ENST00000642579.1:c.2580C>A
ENST00000642611.1:n.5744C>A
ENST00000642902.1:c.4308C>A
ENST00000643260.1:c.4526C>A	ENSP00000494450.1:p.Ala1509Asp
ENST00000643562.1:c.*2648C>A	ENSP00000496124.1:n.*2648C>A
ENST00000643925.1:c.3166C>A
ENST00000644057.1:n.685C>A
ENST00000644484.1:c.*3912C>A	ENSP00000493558.1:n.*3912C>A
ENST00000644675.1:c.*2698C>A	ENSP00000494567.1:n.*2698C>A
ENST00000644757.1:c.*3203-1305C>A	ENSP00000495085.1:n.*3203-1305C>A
ENST00000644772.1:c.4592C>A	ENSP00000494321.1:p.Ala1531Asp
ENST00000645004.1:n.2219C>A
ENST00000645076.1:c.3621C>A
ENST00000645417.1:c.1714C>A
ENST00000645744.1:c.*4211C>A	ENSP00000494564.1:n.*4211C>A
ENST00000645760.1:c.4947C>A
ENST00000645884.1:c.*1809C>A	ENSP00000495516.1:n.*1809C>A
ENST00000646003.1:c.*2548C>A	ENSP00000495259.1:n.*2548C>A
ENST00000646207.1:c.*3363C>A	ENSP00000495025.1:n.*3363C>A
ENST00000646276.1:c.*3930C>A	ENSP00000496070.1:n.*3930C>A
ENST00000646592.1:c.3832C>A
ENST00000646902.1:c.4493C>A	ENSP00000494101.1:p.Ala1498Asp
ENST00000646993.1:c.*2964C>A	ENSP00000493720.1:n.*2964C>A
ENST00000647015.1:c.4277C>A	ENSP00000495389.1:p.Ala1426Asp
ENST00000647086.1:c.*4112C>A	ENSP00000493677.1:n.*4112C>A
ENST00000647158.1:c.*2813C>A	ENSP00000495744.1:n.*2813C>A
ENST00000302539.8:c.4529C>A	ENSP00000303960.4:p.Ala1510Asp
ENST00000389817.7:c.4526C>A	ENSP00000374467.3:p.Ala1509Asp
ENST00000525022.1:n.421C>A
ENST00000526037.5:n.286C>A
ENST00000526168.5:c.314C>A
ENST00000531642.5:c.557C>A
NM_000352.4:c.4526C>A	NP_000343.2:p.Ala1509Asp
NM_001287174.1:c.4529C>A	NP_001274103.1:p.Ala1510Asp
XM_011520331.1:c.4526C>A	XP_011518633.1:p.Ala1509Asp
XM_011520332.1:c.4425C>A	XP_011518634.1:p.Gly1475=
XM_011520333.1:c.3026C>A	XP_011518635.1:p.Ala1009Asp
XR_930890.1:n.4488C>A
NM_001351295.1:c.4592C>A	NP_001338224.1:p.Ala1531Asp
NM_001351296.1:c.4526C>A	NP_001338225.1:p.Ala1509Asp
NM_001351297.1:c.4523C>A	NP_001338226.1:p.Ala1508Asp
NR_147094.1:n.4821C>A
XM_017018197.2:c.4595C>A	XP_016873686.1:p.Ala1532Asp
XM_017018199.1:c.4592C>A	XP_016873688.1:p.Ala1531Asp
XM_017018201.2:c.4491C>A	XP_016873690.1:p.Gly1497=
XM_017018202.1:c.3092C>A	XP_016873691.1:p.Ala1031Asp
XM_017018204.1:c.2483C>A	XP_016873693.1:p.Ala828Asp
XM_024448668.1:c.2894C>A	XP_024304436.1:p.Ala965Asp
XR_001747945.2:n.4563C>A
XR_001747946.2:n.4494C>A
XR_002957189.1:n.6277C>A
NM_000352.6:c.4526C>A MANE Select	NP_000343.2:p.Ala1509Asp
NM_001287174.2:c.4529C>A	NP_001274103.1:p.Ala1510Asp
NM_001351295.2:c.4592C>A	NP_001338224.1:p.Ala1531Asp
NM_001351296.2:c.4526C>A	NP_001338225.1:p.Ala1509Asp
NM_001351297.2:c.4523C>A	NP_001338226.1:p.Ala1508Asp
NR_147094.2:n.4821C>A
NM_001287174.3:c.4529C>A	NP_001274103.1:p.Ala1510Asp