Canonical Allele Identifier: CA379783585

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415919T>A (hg19) ; chr11:g.17394372T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394372T>A , CM000673.2:g.17394372T>A	GRCh38
NC_000011.9:g.17415919T>A , CM000673.1:g.17415919T>A	GRCh37
NC_000011.8:g.17372495T>A	NCBI36
NG_008867.1:g.87531A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4040A>T
ENST00000526037.6:n.374A>T
ENST00000528374.2:c.1030A>T
ENST00000529967.6:n.2778A>T
ENST00000532220.2:n.3672A>T
ENST00000642611.2:n.5772A>T
ENST00000644057.2:n.1015A>T
ENST00000645004.2:n.1938A>T
ENST00000682051.1:n.4601A>T
ENST00000682110.1:n.4654A>T
ENST00000682140.1:c.*225A>T	ENSP00000507829.1:n.*225A>T
ENST00000682185.1:n.5744A>T
ENST00000682204.1:c.*2577A>T	ENSP00000507094.1:n.*2577A>T
ENST00000682215.1:n.5021A>T
ENST00000682288.1:c.*2870A>T	ENSP00000507506.1:n.*2870A>T
ENST00000682442.1:n.4874A>T
ENST00000682528.1:n.4731A>T
ENST00000682673.1:n.4598A>T
ENST00000682805.1:n.5059A>T
ENST00000682965.1:c.*861A>T	ENSP00000508229.1:n.*861A>T
ENST00000683093.1:n.5634A>T
ENST00000683136.1:c.4322A>T	ENSP00000507768.1:p.Asn1441Ile
ENST00000683153.1:n.4696A>T
ENST00000683365.1:n.4756A>T
ENST00000683377.1:n.4550A>T
ENST00000683456.1:c.*1576A>T	ENSP00000508318.1:n.*1576A>T
ENST00000683522.1:n.4736A>T
ENST00000683562.1:c.*2504A>T	ENSP00000508265.1:n.*2504A>T
ENST00000683693.1:n.6115A>T
ENST00000683725.1:c.4335A>T	ENSP00000507496.1:p.Glu1445Asp
ENST00000684010.1:n.4649A>T
ENST00000684014.1:n.626A>T
ENST00000684157.1:n.5639A>T
ENST00000684253.1:n.4557A>T
ENST00000684288.1:c.*2611A>T	ENSP00000507143.1:n.*2611A>T
ENST00000684313.1:n.4086A>T
ENST00000684332.1:n.4727A>T
ENST00000684371.1:n.4760A>T
ENST00000684404.1:n.5682A>T
ENST00000684442.1:n.4878A>T
ENST00000684555.1:c.*2651A>T	ENSP00000507705.1:n.*2651A>T
ENST00000684571.1:c.4280A>T	ENSP00000506935.1:p.Asn1427Ile
ENST00000684593.1:c.*4144A>T	ENSP00000507005.1:n.*4144A>T
ENST00000684711.1:c.*2835A>T	ENSP00000506841.1:n.*2835A>T
ENST00000302539.9:c.4442A>T	ENSP00000303960.4:p.Asn1481Ile
ENST00000389817.8:c.4439A>T MANE Select	ENSP00000374467.4:p.Asn1480Ile
ENST00000642271.1:c.4436A>T	ENSP00000493749.1:p.Asn1479Ile
ENST00000642579.1:c.2493A>T
ENST00000642611.1:n.5657A>T
ENST00000642902.1:c.4221A>T
ENST00000643260.1:c.4439A>T	ENSP00000494450.1:p.Asn1480Ile
ENST00000643562.1:c.*2561A>T	ENSP00000496124.1:n.*2561A>T
ENST00000643925.1:c.3079A>T
ENST00000644057.1:n.598A>T
ENST00000644484.1:c.*3825A>T	ENSP00000493558.1:n.*3825A>T
ENST00000644675.1:c.*2611A>T	ENSP00000494567.1:n.*2611A>T
ENST00000644757.1:c.*3203-1392A>T	ENSP00000495085.1:n.*3203-1392A>T
ENST00000644772.1:c.4505A>T	ENSP00000494321.1:p.Asn1502Ile
ENST00000645004.1:n.2132A>T
ENST00000645076.1:c.3534A>T
ENST00000645417.1:c.1627A>T
ENST00000645744.1:c.*4124A>T	ENSP00000494564.1:n.*4124A>T
ENST00000645760.1:c.4860A>T
ENST00000645884.1:c.*1722A>T	ENSP00000495516.1:n.*1722A>T
ENST00000646003.1:c.*2461A>T	ENSP00000495259.1:n.*2461A>T
ENST00000646207.1:c.*3276A>T	ENSP00000495025.1:n.*3276A>T
ENST00000646276.1:c.*3843A>T	ENSP00000496070.1:n.*3843A>T
ENST00000646592.1:c.3745A>T
ENST00000646902.1:c.4406A>T	ENSP00000494101.1:p.Asn1469Ile
ENST00000646993.1:c.*2877A>T	ENSP00000493720.1:n.*2877A>T
ENST00000647013.1:c.4445A>T	ENSP00000496741.1:n.4445A>T
ENST00000647015.1:c.4190A>T	ENSP00000495389.1:p.Asn1397Ile
ENST00000647086.1:c.*4025A>T	ENSP00000493677.1:n.*4025A>T
ENST00000647158.1:c.*2726A>T	ENSP00000495744.1:n.*2726A>T
ENST00000302539.8:c.4442A>T	ENSP00000303960.4:p.Asn1481Ile
ENST00000389817.7:c.4439A>T	ENSP00000374467.3:p.Asn1480Ile
ENST00000525022.1:n.334A>T
ENST00000526037.5:n.199A>T
ENST00000526168.5:c.227A>T
ENST00000531642.5:c.470A>T
NM_000352.4:c.4439A>T	NP_000343.2:p.Asn1480Ile
NM_001287174.1:c.4442A>T	NP_001274103.1:p.Asn1481Ile
XM_011520331.1:c.4439A>T	XP_011518633.1:p.Asn1480Ile
XM_011520332.1:c.4338A>T	XP_011518634.1:p.Glu1446Asp
XM_011520333.1:c.2939A>T	XP_011518635.1:p.Asn980Ile
XR_930890.1:n.4401A>T
NM_001351295.1:c.4505A>T	NP_001338224.1:p.Asn1502Ile
NM_001351296.1:c.4439A>T	NP_001338225.1:p.Asn1480Ile
NM_001351297.1:c.4436A>T	NP_001338226.1:p.Asn1479Ile
NR_147094.1:n.4734A>T
XM_017018197.2:c.4508A>T	XP_016873686.1:p.Asn1503Ile
XM_017018199.1:c.4505A>T	XP_016873688.1:p.Asn1502Ile
XM_017018201.2:c.4404A>T	XP_016873690.1:p.Glu1468Asp
XM_017018202.1:c.3005A>T	XP_016873691.1:p.Asn1002Ile
XM_017018204.1:c.2396A>T	XP_016873693.1:p.Asn799Ile
XM_024448668.1:c.2807A>T	XP_024304436.1:p.Asn936Ile
XR_001747945.2:n.4476A>T
XR_001747946.2:n.4407A>T
XR_002957189.1:n.6190A>T
NM_000352.6:c.4439A>T MANE Select	NP_000343.2:p.Asn1480Ile
NM_001287174.2:c.4442A>T	NP_001274103.1:p.Asn1481Ile
NM_001351295.2:c.4505A>T	NP_001338224.1:p.Asn1502Ile
NM_001351296.2:c.4439A>T	NP_001338225.1:p.Asn1480Ile
NM_001351297.2:c.4436A>T	NP_001338226.1:p.Asn1479Ile
NR_147094.2:n.4734A>T
NM_001287174.3:c.4442A>T	NP_001274103.1:p.Asn1481Ile