Canonical Allele Identifier: CA379783600

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1338681
• ClinVar RCV Id: RCV001818052
• dbSNP Id: rs1591705863
• MyVariant Identifiers: chr11:g.17415920T>A (hg19) ; chr11:g.17394373T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394373T>A , CM000673.2:g.17394373T>A	GRCh38
NC_000011.9:g.17415920T>A , CM000673.1:g.17415920T>A	GRCh37
NC_000011.8:g.17372496T>A	NCBI36
NG_008867.1:g.87530A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4039A>T
ENST00000526037.6:n.373A>T
ENST00000528374.2:c.1029A>T
ENST00000529967.6:n.2777A>T
ENST00000532220.2:n.3671A>T
ENST00000642611.2:n.5771A>T
ENST00000644057.2:n.1014A>T
ENST00000645004.2:n.1937A>T
ENST00000682051.1:n.4600A>T
ENST00000682110.1:n.4653A>T
ENST00000682140.1:c.*224A>T	ENSP00000507829.1:n.*224A>T
ENST00000682185.1:n.5743A>T
ENST00000682204.1:c.*2576A>T	ENSP00000507094.1:n.*2576A>T
ENST00000682215.1:n.5020A>T
ENST00000682288.1:c.*2869A>T	ENSP00000507506.1:n.*2869A>T
ENST00000682442.1:n.4873A>T
ENST00000682528.1:n.4730A>T
ENST00000682673.1:n.4597A>T
ENST00000682805.1:n.5058A>T
ENST00000682965.1:c.*860A>T	ENSP00000508229.1:n.*860A>T
ENST00000683093.1:n.5633A>T
ENST00000683136.1:c.4321A>T	ENSP00000507768.1:p.Asn1441Tyr
ENST00000683153.1:n.4695A>T
ENST00000683365.1:n.4755A>T
ENST00000683377.1:n.4549A>T
ENST00000683456.1:c.*1575A>T	ENSP00000508318.1:n.*1575A>T
ENST00000683522.1:n.4735A>T
ENST00000683562.1:c.*2503A>T	ENSP00000508265.1:n.*2503A>T
ENST00000683693.1:n.6114A>T
ENST00000683725.1:c.4334A>T	ENSP00000507496.1:p.Glu1445Val
ENST00000684010.1:n.4648A>T
ENST00000684014.1:n.625A>T
ENST00000684157.1:n.5638A>T
ENST00000684253.1:n.4556A>T
ENST00000684288.1:c.*2610A>T	ENSP00000507143.1:n.*2610A>T
ENST00000684313.1:n.4085A>T
ENST00000684332.1:n.4726A>T
ENST00000684371.1:n.4759A>T
ENST00000684404.1:n.5681A>T
ENST00000684442.1:n.4877A>T
ENST00000684555.1:c.*2650A>T	ENSP00000507705.1:n.*2650A>T
ENST00000684571.1:c.4279A>T	ENSP00000506935.1:p.Asn1427Tyr
ENST00000684593.1:c.*4143A>T	ENSP00000507005.1:n.*4143A>T
ENST00000684711.1:c.*2834A>T	ENSP00000506841.1:n.*2834A>T
ENST00000302539.9:c.4441A>T	ENSP00000303960.4:p.Asn1481Tyr
ENST00000389817.8:c.4438A>T MANE Select	ENSP00000374467.4:p.Asn1480Tyr
ENST00000642271.1:c.4435A>T	ENSP00000493749.1:p.Asn1479Tyr
ENST00000642579.1:c.2492A>T
ENST00000642611.1:n.5656A>T
ENST00000642902.1:c.4220A>T
ENST00000643260.1:c.4438A>T	ENSP00000494450.1:p.Asn1480Tyr
ENST00000643562.1:c.*2560A>T	ENSP00000496124.1:n.*2560A>T
ENST00000643925.1:c.3078A>T
ENST00000644057.1:n.597A>T
ENST00000644484.1:c.*3824A>T	ENSP00000493558.1:n.*3824A>T
ENST00000644675.1:c.*2610A>T	ENSP00000494567.1:n.*2610A>T
ENST00000644757.1:c.*3203-1393A>T	ENSP00000495085.1:n.*3203-1393A>T
ENST00000644772.1:c.4504A>T	ENSP00000494321.1:p.Asn1502Tyr
ENST00000645004.1:n.2131A>T
ENST00000645076.1:c.3533A>T
ENST00000645417.1:c.1626A>T
ENST00000645744.1:c.*4123A>T	ENSP00000494564.1:n.*4123A>T
ENST00000645760.1:c.4859A>T
ENST00000645884.1:c.*1721A>T	ENSP00000495516.1:n.*1721A>T
ENST00000646003.1:c.*2460A>T	ENSP00000495259.1:n.*2460A>T
ENST00000646207.1:c.*3275A>T	ENSP00000495025.1:n.*3275A>T
ENST00000646276.1:c.*3842A>T	ENSP00000496070.1:n.*3842A>T
ENST00000646592.1:c.3744A>T
ENST00000646902.1:c.4405A>T	ENSP00000494101.1:p.Asn1469Tyr
ENST00000646993.1:c.*2876A>T	ENSP00000493720.1:n.*2876A>T
ENST00000647013.1:c.4444A>T	ENSP00000496741.1:n.4444A>T
ENST00000647015.1:c.4189A>T	ENSP00000495389.1:p.Asn1397Tyr
ENST00000647086.1:c.*4024A>T	ENSP00000493677.1:n.*4024A>T
ENST00000647158.1:c.*2725A>T	ENSP00000495744.1:n.*2725A>T
ENST00000302539.8:c.4441A>T	ENSP00000303960.4:p.Asn1481Tyr
ENST00000389817.7:c.4438A>T	ENSP00000374467.3:p.Asn1480Tyr
ENST00000525022.1:n.333A>T
ENST00000526037.5:n.198A>T
ENST00000526168.5:c.226A>T
ENST00000531642.5:c.469A>T
NM_000352.4:c.4438A>T	NP_000343.2:p.Asn1480Tyr
NM_001287174.1:c.4441A>T	NP_001274103.1:p.Asn1481Tyr
XM_011520331.1:c.4438A>T	XP_011518633.1:p.Asn1480Tyr
XM_011520332.1:c.4337A>T	XP_011518634.1:p.Glu1446Val
XM_011520333.1:c.2938A>T	XP_011518635.1:p.Asn980Tyr
XR_930890.1:n.4400A>T
NM_001351295.1:c.4504A>T	NP_001338224.1:p.Asn1502Tyr
NM_001351296.1:c.4438A>T	NP_001338225.1:p.Asn1480Tyr
NM_001351297.1:c.4435A>T	NP_001338226.1:p.Asn1479Tyr
NR_147094.1:n.4733A>T
XM_017018197.2:c.4507A>T	XP_016873686.1:p.Asn1503Tyr
XM_017018199.1:c.4504A>T	XP_016873688.1:p.Asn1502Tyr
XM_017018201.2:c.4403A>T	XP_016873690.1:p.Glu1468Val
XM_017018202.1:c.3004A>T	XP_016873691.1:p.Asn1002Tyr
XM_017018204.1:c.2395A>T	XP_016873693.1:p.Asn799Tyr
XM_024448668.1:c.2806A>T	XP_024304436.1:p.Asn936Tyr
XR_001747945.2:n.4475A>T
XR_001747946.2:n.4406A>T
XR_002957189.1:n.6189A>T
NM_000352.6:c.4438A>T MANE Select	NP_000343.2:p.Asn1480Tyr
NM_001287174.2:c.4441A>T	NP_001274103.1:p.Asn1481Tyr
NM_001351295.2:c.4504A>T	NP_001338224.1:p.Asn1502Tyr
NM_001351296.2:c.4438A>T	NP_001338225.1:p.Asn1480Tyr
NM_001351297.2:c.4435A>T	NP_001338226.1:p.Asn1479Tyr
NR_147094.2:n.4733A>T
NM_001287174.3:c.4441A>T	NP_001274103.1:p.Asn1481Tyr