Canonical Allele Identifier: CA5902453

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1506182
• ClinVar RCV Id: RCV002004428 ; RCV002290835
• dbSNP Id: rs769989185
• ExAC: 11:17415814 G / A
• gnomAD v2: 11-17415814-G-A
• gnomAD v4: 11-17394267-G-A
• MyVariant Identifiers: chr11:g.17415814G>A (hg19) ; chr11:g.17394267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394267G>A , CM000673.2:g.17394267G>A	GRCh38
NC_000011.9:g.17415814G>A , CM000673.1:g.17415814G>A	GRCh37
NC_000011.8:g.17372390G>A	NCBI36
NG_008867.1:g.87636C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4145C>T
ENST00000526037.6:n.479C>T
ENST00000528374.2:c.1135C>T
ENST00000529967.6:n.2883C>T
ENST00000532220.2:n.3777C>T
ENST00000642611.2:n.5877C>T
ENST00000644057.2:n.1120C>T
ENST00000645004.2:n.2043C>T
ENST00000682051.1:n.4706C>T
ENST00000682110.1:n.4759C>T
ENST00000682140.1:c.*330C>T	ENSP00000507829.1:n.*330C>T
ENST00000682185.1:n.5849C>T
ENST00000682204.1:c.*2682C>T	ENSP00000507094.1:n.*2682C>T
ENST00000682215.1:n.5126C>T
ENST00000682288.1:c.*2975C>T	ENSP00000507506.1:n.*2975C>T
ENST00000682442.1:n.4979C>T
ENST00000682528.1:n.4836C>T
ENST00000682673.1:n.4703C>T
ENST00000682805.1:n.5164C>T
ENST00000682965.1:c.*966C>T	ENSP00000508229.1:n.*966C>T
ENST00000683093.1:n.5739C>T
ENST00000683136.1:c.4427C>T	ENSP00000507768.1:p.Thr1476Met
ENST00000683153.1:n.4801C>T
ENST00000683365.1:n.4861C>T
ENST00000683377.1:n.4655C>T
ENST00000683456.1:c.*1681C>T	ENSP00000508318.1:n.*1681C>T
ENST00000683522.1:n.4841C>T
ENST00000683562.1:c.*2609C>T	ENSP00000508265.1:n.*2609C>T
ENST00000683693.1:n.6220C>T
ENST00000683725.1:c.*9C>T	ENSP00000507496.1:n.*9C>T
ENST00000684010.1:n.4754C>T
ENST00000684014.1:n.731C>T
ENST00000684157.1:n.5744C>T
ENST00000684253.1:n.4662C>T
ENST00000684288.1:c.*2716C>T	ENSP00000507143.1:n.*2716C>T
ENST00000684313.1:n.4191C>T
ENST00000684332.1:n.4832C>T
ENST00000684371.1:n.4865C>T
ENST00000684404.1:n.5787C>T
ENST00000684442.1:n.4983C>T
ENST00000684555.1:c.*2756C>T	ENSP00000507705.1:n.*2756C>T
ENST00000684571.1:c.4385C>T	ENSP00000506935.1:p.Thr1462Met
ENST00000684593.1:c.*4249C>T	ENSP00000507005.1:n.*4249C>T
ENST00000684711.1:c.*2940C>T	ENSP00000506841.1:n.*2940C>T
ENST00000302539.9:c.4547C>T	ENSP00000303960.4:p.Thr1516Met
ENST00000389817.8:c.4544C>T MANE Select	ENSP00000374467.4:p.Thr1515Met
ENST00000642271.1:c.4541C>T	ENSP00000493749.1:p.Thr1514Met
ENST00000642579.1:c.2598C>T
ENST00000642611.1:n.5762C>T
ENST00000642902.1:c.4326C>T
ENST00000643260.1:c.4544C>T	ENSP00000494450.1:p.Thr1515Met
ENST00000643562.1:c.*2666C>T	ENSP00000496124.1:n.*2666C>T
ENST00000643925.1:c.3184C>T
ENST00000644057.1:n.703C>T
ENST00000644484.1:c.*3930C>T	ENSP00000493558.1:n.*3930C>T
ENST00000644675.1:c.*2716C>T	ENSP00000494567.1:n.*2716C>T
ENST00000644757.1:c.*3203-1287C>T	ENSP00000495085.1:n.*3203-1287C>T
ENST00000644772.1:c.4610C>T	ENSP00000494321.1:p.Thr1537Met
ENST00000645004.1:n.2237C>T
ENST00000645076.1:c.3639C>T
ENST00000645417.1:c.1732C>T
ENST00000645744.1:c.*4229C>T	ENSP00000494564.1:n.*4229C>T
ENST00000645760.1:c.4965C>T
ENST00000645884.1:c.*1827C>T	ENSP00000495516.1:n.*1827C>T
ENST00000646003.1:c.*2566C>T	ENSP00000495259.1:n.*2566C>T
ENST00000646207.1:c.*3381C>T	ENSP00000495025.1:n.*3381C>T
ENST00000646276.1:c.*3948C>T	ENSP00000496070.1:n.*3948C>T
ENST00000646592.1:c.3850C>T
ENST00000646902.1:c.4511C>T	ENSP00000494101.1:p.Thr1504Met
ENST00000646993.1:c.*2982C>T	ENSP00000493720.1:n.*2982C>T
ENST00000647015.1:c.4295C>T	ENSP00000495389.1:p.Thr1432Met
ENST00000647086.1:c.*4130C>T	ENSP00000493677.1:n.*4130C>T
ENST00000647158.1:c.*2831C>T	ENSP00000495744.1:n.*2831C>T
ENST00000302539.8:c.4547C>T	ENSP00000303960.4:p.Thr1516Met
ENST00000389817.7:c.4544C>T	ENSP00000374467.3:p.Thr1515Met
ENST00000525022.1:n.439C>T
ENST00000526037.5:n.304C>T
ENST00000526168.5:c.332C>T
ENST00000531642.5:c.575C>T
NM_000352.4:c.4544C>T	NP_000343.2:p.Thr1515Met
NM_001287174.1:c.4547C>T	NP_001274103.1:p.Thr1516Met
XM_011520331.1:c.4544C>T	XP_011518633.1:p.Thr1515Met
XM_011520332.1:c.*9C>T	XP_011518634.1:n.*9C>T
XM_011520333.1:c.3044C>T	XP_011518635.1:p.Thr1015Met
XR_930890.1:n.4506C>T
NM_001351295.1:c.4610C>T	NP_001338224.1:p.Thr1537Met
NM_001351296.1:c.4544C>T	NP_001338225.1:p.Thr1515Met
NM_001351297.1:c.4541C>T	NP_001338226.1:p.Thr1514Met
NR_147094.1:n.4839C>T
XM_017018197.2:c.4613C>T	XP_016873686.1:p.Thr1538Met
XM_017018199.1:c.4610C>T	XP_016873688.1:p.Thr1537Met
XM_017018201.2:c.*9C>T	XP_016873690.1:n.*9C>T
XM_017018202.1:c.3110C>T	XP_016873691.1:p.Thr1037Met
XM_017018204.1:c.2501C>T	XP_016873693.1:p.Thr834Met
XM_024448668.1:c.2912C>T	XP_024304436.1:p.Thr971Met
XR_001747945.2:n.4581C>T
XR_001747946.2:n.4512C>T
XR_002957189.1:n.6295C>T
NM_000352.6:c.4544C>T MANE Select	NP_000343.2:p.Thr1515Met
NM_001287174.2:c.4547C>T	NP_001274103.1:p.Thr1516Met
NM_001351295.2:c.4610C>T	NP_001338224.1:p.Thr1537Met
NM_001351296.2:c.4544C>T	NP_001338225.1:p.Thr1515Met
NM_001351297.2:c.4541C>T	NP_001338226.1:p.Thr1514Met
NR_147094.2:n.4839C>T
NM_001287174.3:c.4547C>T	NP_001274103.1:p.Thr1516Met