Canonical Allele Identifier: CA5902455

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 434036
• ClinVar RCV Id: RCV002244964 ; RCV003159614 ; RCV000504463 ; RCV001446350 ; RCV002244965
• dbSNP Id: rs553746345
• ExAC: 11:17415834 C / T
• gnomAD v2: 11-17415834-C-T
• gnomAD v3: 11-17394287-C-T
• gnomAD v4: 11-17394287-C-T
• MyVariant Identifiers: chr11:g.17415834C>T (hg19) ; chr11:g.17394287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394287C>T , CM000673.2:g.17394287C>T	GRCh38
NC_000011.9:g.17415834C>T , CM000673.1:g.17415834C>T	GRCh37
NC_000011.8:g.17372410C>T	NCBI36
NG_008867.1:g.87616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4125G>A
ENST00000526037.6:n.459G>A
ENST00000528374.2:c.1115G>A
ENST00000529967.6:n.2863G>A
ENST00000532220.2:n.3757G>A
ENST00000642611.2:n.5857G>A
ENST00000644057.2:n.1100G>A
ENST00000645004.2:n.2023G>A
ENST00000682051.1:n.4686G>A
ENST00000682110.1:n.4739G>A
ENST00000682140.1:c.*310G>A	ENSP00000507829.1:n.*310G>A
ENST00000682185.1:n.5829G>A
ENST00000682204.1:c.*2662G>A	ENSP00000507094.1:n.*2662G>A
ENST00000682215.1:n.5106G>A
ENST00000682288.1:c.*2955G>A	ENSP00000507506.1:n.*2955G>A
ENST00000682442.1:n.4959G>A
ENST00000682528.1:n.4816G>A
ENST00000682673.1:n.4683G>A
ENST00000682805.1:n.5144G>A
ENST00000682965.1:c.*946G>A	ENSP00000508229.1:n.*946G>A
ENST00000683093.1:n.5719G>A
ENST00000683136.1:c.4407G>A	ENSP00000507768.1:p.Thr1469=
ENST00000683153.1:n.4781G>A
ENST00000683365.1:n.4841G>A
ENST00000683377.1:n.4635G>A
ENST00000683456.1:c.*1661G>A	ENSP00000508318.1:n.*1661G>A
ENST00000683522.1:n.4821G>A
ENST00000683562.1:c.*2589G>A	ENSP00000508265.1:n.*2589G>A
ENST00000683693.1:n.6200G>A
ENST00000683725.1:c.4420G>A	ENSP00000507496.1:p.Gly1474Ser
ENST00000684010.1:n.4734G>A
ENST00000684014.1:n.711G>A
ENST00000684157.1:n.5724G>A
ENST00000684253.1:n.4642G>A
ENST00000684288.1:c.*2696G>A	ENSP00000507143.1:n.*2696G>A
ENST00000684313.1:n.4171G>A
ENST00000684332.1:n.4812G>A
ENST00000684371.1:n.4845G>A
ENST00000684404.1:n.5767G>A
ENST00000684442.1:n.4963G>A
ENST00000684555.1:c.*2736G>A	ENSP00000507705.1:n.*2736G>A
ENST00000684571.1:c.4365G>A	ENSP00000506935.1:p.Thr1455=
ENST00000684593.1:c.*4229G>A	ENSP00000507005.1:n.*4229G>A
ENST00000684711.1:c.*2920G>A	ENSP00000506841.1:n.*2920G>A
ENST00000302539.9:c.4527G>A	ENSP00000303960.4:p.Thr1509=
ENST00000389817.8:c.4524G>A MANE Select	ENSP00000374467.4:p.Thr1508=
ENST00000642271.1:c.4521G>A	ENSP00000493749.1:p.Thr1507=
ENST00000642579.1:c.2578G>A
ENST00000642611.1:n.5742G>A
ENST00000642902.1:c.4306G>A
ENST00000643260.1:c.4524G>A	ENSP00000494450.1:p.Thr1508=
ENST00000643562.1:c.*2646G>A	ENSP00000496124.1:n.*2646G>A
ENST00000643925.1:c.3164G>A
ENST00000644057.1:n.683G>A
ENST00000644484.1:c.*3910G>A	ENSP00000493558.1:n.*3910G>A
ENST00000644675.1:c.*2696G>A	ENSP00000494567.1:n.*2696G>A
ENST00000644757.1:c.*3203-1307G>A	ENSP00000495085.1:n.*3203-1307G>A
ENST00000644772.1:c.4590G>A	ENSP00000494321.1:p.Thr1530=
ENST00000645004.1:n.2217G>A
ENST00000645076.1:c.3619G>A
ENST00000645417.1:c.1712G>A
ENST00000645744.1:c.*4209G>A	ENSP00000494564.1:n.*4209G>A
ENST00000645760.1:c.4945G>A
ENST00000645884.1:c.*1807G>A	ENSP00000495516.1:n.*1807G>A
ENST00000646003.1:c.*2546G>A	ENSP00000495259.1:n.*2546G>A
ENST00000646207.1:c.*3361G>A	ENSP00000495025.1:n.*3361G>A
ENST00000646276.1:c.*3928G>A	ENSP00000496070.1:n.*3928G>A
ENST00000646592.1:c.3830G>A
ENST00000646902.1:c.4491G>A	ENSP00000494101.1:p.Thr1497=
ENST00000646993.1:c.*2962G>A	ENSP00000493720.1:n.*2962G>A
ENST00000647013.1:c.4530G>A	ENSP00000496741.1:n.4530G>A
ENST00000647015.1:c.4275G>A	ENSP00000495389.1:p.Thr1425=
ENST00000647086.1:c.*4110G>A	ENSP00000493677.1:n.*4110G>A
ENST00000647158.1:c.*2811G>A	ENSP00000495744.1:n.*2811G>A
ENST00000302539.8:c.4527G>A	ENSP00000303960.4:p.Thr1509=
ENST00000389817.7:c.4524G>A	ENSP00000374467.3:p.Thr1508=
ENST00000525022.1:n.419G>A
ENST00000526037.5:n.284G>A
ENST00000526168.5:c.312G>A
ENST00000531642.5:c.555G>A
NM_000352.4:c.4524G>A	NP_000343.2:p.Thr1508=
NM_001287174.1:c.4527G>A	NP_001274103.1:p.Thr1509=
XM_011520331.1:c.4524G>A	XP_011518633.1:p.Thr1508=
XM_011520332.1:c.4423G>A	XP_011518634.1:p.Gly1475Ser
XM_011520333.1:c.3024G>A	XP_011518635.1:p.Thr1008=
XR_930890.1:n.4486G>A
NM_001351295.1:c.4590G>A	NP_001338224.1:p.Thr1530=
NM_001351296.1:c.4524G>A	NP_001338225.1:p.Thr1508=
NM_001351297.1:c.4521G>A	NP_001338226.1:p.Thr1507=
NR_147094.1:n.4819G>A
XM_017018197.2:c.4593G>A	XP_016873686.1:p.Thr1531=
XM_017018199.1:c.4590G>A	XP_016873688.1:p.Thr1530=
XM_017018201.2:c.4489G>A	XP_016873690.1:p.Gly1497Ser
XM_017018202.1:c.3090G>A	XP_016873691.1:p.Thr1030=
XM_017018204.1:c.2481G>A	XP_016873693.1:p.Thr827=
XM_024448668.1:c.2892G>A	XP_024304436.1:p.Thr964=
XR_001747945.2:n.4561G>A
XR_001747946.2:n.4492G>A
XR_002957189.1:n.6275G>A
NM_000352.6:c.4524G>A MANE Select	NP_000343.2:p.Thr1508=
NM_001287174.2:c.4527G>A	NP_001274103.1:p.Thr1509=
NM_001351295.2:c.4590G>A	NP_001338224.1:p.Thr1530=
NM_001351296.2:c.4524G>A	NP_001338225.1:p.Thr1508=
NM_001351297.2:c.4521G>A	NP_001338226.1:p.Thr1507=
NR_147094.2:n.4819G>A
NM_001287174.3:c.4527G>A	NP_001274103.1:p.Thr1509=