Canonical Allele Identifier: CA473298055

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2760952
• ClinVar RCV Id: RCV003567399
• MyVariant Identifiers: chr11:g.17415822G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394275G>A , CM000673.2:g.17394275G>A	GRCh38
NC_000011.9:g.17415822G>A , CM000673.1:g.17415822G>A	GRCh37
NC_000011.8:g.17372398G>A	NCBI36
NG_008867.1:g.87628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4137C>T
ENST00000526037.6:n.471C>T
ENST00000528374.2:c.1127C>T
ENST00000529967.6:n.2875C>T
ENST00000532220.2:n.3769C>T
ENST00000642611.2:n.5869C>T
ENST00000644057.2:n.1112C>T
ENST00000645004.2:n.2035C>T
ENST00000682051.1:n.4698C>T
ENST00000682110.1:n.4751C>T
ENST00000682140.1:c.*322C>T	ENSP00000507829.1:n.*322C>T
ENST00000682185.1:n.5841C>T
ENST00000682204.1:c.*2674C>T	ENSP00000507094.1:n.*2674C>T
ENST00000682215.1:n.5118C>T
ENST00000682288.1:c.*2967C>T	ENSP00000507506.1:n.*2967C>T
ENST00000682442.1:n.4971C>T
ENST00000682528.1:n.4828C>T
ENST00000682673.1:n.4695C>T
ENST00000682805.1:n.5156C>T
ENST00000682965.1:c.*958C>T	ENSP00000508229.1:n.*958C>T
ENST00000683093.1:n.5731C>T
ENST00000683136.1:c.4419C>T	ENSP00000507768.1:p.Asp1473=
ENST00000683153.1:n.4793C>T
ENST00000683365.1:n.4853C>T
ENST00000683377.1:n.4647C>T
ENST00000683456.1:c.*1673C>T	ENSP00000508318.1:n.*1673C>T
ENST00000683522.1:n.4833C>T
ENST00000683562.1:c.*2601C>T	ENSP00000508265.1:n.*2601C>T
ENST00000683693.1:n.6212C>T
ENST00000683725.1:c.*1C>T	ENSP00000507496.1:n.*1C>T
ENST00000684010.1:n.4746C>T
ENST00000684014.1:n.723C>T
ENST00000684157.1:n.5736C>T
ENST00000684253.1:n.4654C>T
ENST00000684288.1:c.*2708C>T	ENSP00000507143.1:n.*2708C>T
ENST00000684313.1:n.4183C>T
ENST00000684332.1:n.4824C>T
ENST00000684371.1:n.4857C>T
ENST00000684404.1:n.5779C>T
ENST00000684442.1:n.4975C>T
ENST00000684555.1:c.*2748C>T	ENSP00000507705.1:n.*2748C>T
ENST00000684571.1:c.4377C>T	ENSP00000506935.1:p.Asp1459=
ENST00000684593.1:c.*4241C>T	ENSP00000507005.1:n.*4241C>T
ENST00000684711.1:c.*2932C>T	ENSP00000506841.1:n.*2932C>T
ENST00000302539.9:c.4539C>T	ENSP00000303960.4:p.Asp1513=
ENST00000389817.8:c.4536C>T MANE Select	ENSP00000374467.4:p.Asp1512=
ENST00000642271.1:c.4533C>T	ENSP00000493749.1:p.Asp1511=
ENST00000642579.1:c.2590C>T
ENST00000642611.1:n.5754C>T
ENST00000642902.1:c.4318C>T
ENST00000643260.1:c.4536C>T	ENSP00000494450.1:p.Asp1512=
ENST00000643562.1:c.*2658C>T	ENSP00000496124.1:n.*2658C>T
ENST00000643925.1:c.3176C>T
ENST00000644057.1:n.695C>T
ENST00000644484.1:c.*3922C>T	ENSP00000493558.1:n.*3922C>T
ENST00000644675.1:c.*2708C>T	ENSP00000494567.1:n.*2708C>T
ENST00000644757.1:c.*3203-1295C>T	ENSP00000495085.1:n.*3203-1295C>T
ENST00000644772.1:c.4602C>T	ENSP00000494321.1:p.Asp1534=
ENST00000645004.1:n.2229C>T
ENST00000645076.1:c.3631C>T
ENST00000645417.1:c.1724C>T
ENST00000645744.1:c.*4221C>T	ENSP00000494564.1:n.*4221C>T
ENST00000645760.1:c.4957C>T
ENST00000645884.1:c.*1819C>T	ENSP00000495516.1:n.*1819C>T
ENST00000646003.1:c.*2558C>T	ENSP00000495259.1:n.*2558C>T
ENST00000646207.1:c.*3373C>T	ENSP00000495025.1:n.*3373C>T
ENST00000646276.1:c.*3940C>T	ENSP00000496070.1:n.*3940C>T
ENST00000646592.1:c.3842C>T
ENST00000646902.1:c.4503C>T	ENSP00000494101.1:p.Asp1501=
ENST00000646993.1:c.*2974C>T	ENSP00000493720.1:n.*2974C>T
ENST00000647015.1:c.4287C>T	ENSP00000495389.1:p.Asp1429=
ENST00000647086.1:c.*4122C>T	ENSP00000493677.1:n.*4122C>T
ENST00000647158.1:c.*2823C>T	ENSP00000495744.1:n.*2823C>T
ENST00000302539.8:c.4539C>T	ENSP00000303960.4:p.Asp1513=
ENST00000389817.7:c.4536C>T	ENSP00000374467.3:p.Asp1512=
ENST00000525022.1:n.431C>T
ENST00000526037.5:n.296C>T
ENST00000526168.5:c.324C>T
ENST00000531642.5:c.567C>T
NM_000352.4:c.4536C>T	NP_000343.2:p.Asp1512=
NM_001287174.1:c.4539C>T	NP_001274103.1:p.Asp1513=
XM_011520331.1:c.4536C>T	XP_011518633.1:p.Asp1512=
XM_011520332.1:c.*1C>T	XP_011518634.1:n.*1C>T
XM_011520333.1:c.3036C>T	XP_011518635.1:p.Asp1012=
XR_930890.1:n.4498C>T
NM_001351295.1:c.4602C>T	NP_001338224.1:p.Asp1534=
NM_001351296.1:c.4536C>T	NP_001338225.1:p.Asp1512=
NM_001351297.1:c.4533C>T	NP_001338226.1:p.Asp1511=
NR_147094.1:n.4831C>T
XM_017018197.2:c.4605C>T	XP_016873686.1:p.Asp1535=
XM_017018199.1:c.4602C>T	XP_016873688.1:p.Asp1534=
XM_017018201.2:c.*1C>T	XP_016873690.1:n.*1C>T
XM_017018202.1:c.3102C>T	XP_016873691.1:p.Asp1034=
XM_017018204.1:c.2493C>T	XP_016873693.1:p.Asp831=
XM_024448668.1:c.2904C>T	XP_024304436.1:p.Asp968=
XR_001747945.2:n.4573C>T
XR_001747946.2:n.4504C>T
XR_002957189.1:n.6287C>T
NM_000352.6:c.4536C>T MANE Select	NP_000343.2:p.Asp1512=
NM_001287174.2:c.4539C>T	NP_001274103.1:p.Asp1513=
NM_001351295.2:c.4602C>T	NP_001338224.1:p.Asp1534=
NM_001351296.2:c.4536C>T	NP_001338225.1:p.Asp1512=
NM_001351297.2:c.4533C>T	NP_001338226.1:p.Asp1511=
NR_147094.2:n.4831C>T
NM_001287174.3:c.4539C>T	NP_001274103.1:p.Asp1513=