Canonical Allele Identifier: CA5902376

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1443657
• ClinVar RCV Id: RCV001981312
• dbSNP Id: rs199736860
• ExAC: 11:17414564 C / T
• gnomAD v2: 11-17414564-C-T
• gnomAD v3: 11-17393017-C-T
• gnomAD v4: 11-17393017-C-T
• MyVariant Identifiers: chr11:g.17414564C>T (hg19) ; chr11:g.17393017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393017C>T , CM000673.2:g.17393017C>T	GRCh38
NC_000011.9:g.17414564C>T , CM000673.1:g.17414564C>T	GRCh37
NC_000011.8:g.17371140C>T	NCBI36
NG_008867.1:g.88886G>A
NG_012446.1:g.643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4321G>A
ENST00000526037.6:n.655G>A
ENST00000528374.2:c.1311G>A
ENST00000529967.6:n.3059G>A
ENST00000532220.2:n.3953G>A
ENST00000642611.2:n.6053G>A
ENST00000644057.2:n.1296G>A
ENST00000645004.2:n.2219G>A
ENST00000682051.1:n.4882G>A
ENST00000682110.1:n.4935G>A
ENST00000682140.1:c.*506G>A	ENSP00000507829.1:n.*506G>A
ENST00000682185.1:n.6025G>A
ENST00000682204.1:c.*2858G>A	ENSP00000507094.1:n.*2858G>A
ENST00000682215.1:n.5302G>A
ENST00000682288.1:c.*3151G>A	ENSP00000507506.1:n.*3151G>A
ENST00000682442.1:n.5155G>A
ENST00000682528.1:n.5012G>A
ENST00000682673.1:n.4879G>A
ENST00000682805.1:n.5340G>A
ENST00000682965.1:c.*1142G>A	ENSP00000508229.1:n.*1142G>A
ENST00000683093.1:n.5915G>A
ENST00000683136.1:c.4603G>A	ENSP00000507768.1:p.Ala1535Thr
ENST00000683153.1:n.4977G>A
ENST00000683365.1:n.5037G>A
ENST00000683377.1:n.4831G>A
ENST00000683456.1:c.*1857G>A	ENSP00000508318.1:n.*1857G>A
ENST00000683522.1:n.5017G>A
ENST00000683562.1:c.*2785G>A	ENSP00000508265.1:n.*2785G>A
ENST00000683693.1:n.6396G>A
ENST00000683725.1:c.*185G>A	ENSP00000507496.1:n.*185G>A
ENST00000684010.1:n.4930G>A
ENST00000684014.1:n.907G>A
ENST00000684157.1:n.5920G>A
ENST00000684253.1:n.4838G>A
ENST00000684288.1:c.*2892G>A	ENSP00000507143.1:n.*2892G>A
ENST00000684313.1:n.4367G>A
ENST00000684332.1:n.5008G>A
ENST00000684371.1:n.5041G>A
ENST00000684404.1:n.5963G>A
ENST00000684442.1:n.5159G>A
ENST00000684555.1:c.*2932G>A	ENSP00000507705.1:n.*2932G>A
ENST00000684571.1:c.4561G>A	ENSP00000506935.1:p.Ala1521Thr
ENST00000684593.1:c.*4425G>A	ENSP00000507005.1:n.*4425G>A
ENST00000684711.1:c.*3116G>A	ENSP00000506841.1:n.*3116G>A
ENST00000302539.9:c.4723G>A	ENSP00000303960.4:p.Ala1575Thr
ENST00000389817.8:c.4720G>A MANE Select	ENSP00000374467.4:p.Ala1574Thr
ENST00000642271.1:c.4717G>A	ENSP00000493749.1:p.Ala1573Thr
ENST00000642579.1:c.2774G>A
ENST00000642611.1:n.5938G>A
ENST00000642902.1:c.4502G>A
ENST00000643260.1:c.4720G>A	ENSP00000494450.1:p.Ala1574Thr
ENST00000643562.1:c.*2842G>A	ENSP00000496124.1:n.*2842G>A
ENST00000643925.1:c.3297G>A
ENST00000644057.1:n.879G>A
ENST00000644484.1:c.*4106G>A	ENSP00000493558.1:n.*4106G>A
ENST00000644675.1:c.*2892G>A	ENSP00000494567.1:n.*2892G>A
ENST00000644757.1:c.*3203-37G>A	ENSP00000495085.1:n.*3203-37G>A
ENST00000644772.1:c.4786G>A	ENSP00000494321.1:p.Ala1596Thr
ENST00000645004.1:n.2413G>A
ENST00000645076.1:c.3815G>A
ENST00000645760.1:c.5141G>A
ENST00000645884.1:c.*2003G>A	ENSP00000495516.1:n.*2003G>A
ENST00000646003.1:c.*2742G>A	ENSP00000495259.1:n.*2742G>A
ENST00000646207.1:c.*3557G>A	ENSP00000495025.1:n.*3557G>A
ENST00000646592.1:c.4026G>A
ENST00000646902.1:c.4687G>A	ENSP00000494101.1:p.Ala1563Thr
ENST00000646993.1:c.*3158G>A	ENSP00000493720.1:n.*3158G>A
ENST00000647015.1:c.4471G>A	ENSP00000495389.1:p.Ala1491Thr
ENST00000647086.1:c.*4306G>A	ENSP00000493677.1:n.*4306G>A
ENST00000302539.8:c.4723G>A	ENSP00000303960.4:p.Ala1575Thr
ENST00000389817.7:c.4720G>A	ENSP00000374467.3:p.Ala1574Thr
ENST00000526037.5:n.480G>A
ENST00000526168.5:c.508G>A
ENST00000531642.5:c.751G>A
NM_000352.4:c.4720G>A	NP_000343.2:p.Ala1574Thr
NM_001287174.1:c.4723G>A	NP_001274103.1:p.Ala1575Thr
XM_011520331.1:c.4720G>A	XP_011518633.1:p.Ala1574Thr
XM_011520333.1:c.3220G>A	XP_011518635.1:p.Ala1074Thr
XR_930890.1:n.4682G>A
NM_001351295.1:c.4786G>A	NP_001338224.1:p.Ala1596Thr
NM_001351296.1:c.4720G>A	NP_001338225.1:p.Ala1574Thr
NM_001351297.1:c.4717G>A	NP_001338226.1:p.Ala1573Thr
NR_147094.1:n.5015G>A
XM_017018197.2:c.4789G>A	XP_016873686.1:p.Ala1597Thr
XM_017018199.1:c.4786G>A	XP_016873688.1:p.Ala1596Thr
XM_017018202.1:c.3286G>A	XP_016873691.1:p.Ala1096Thr
XM_017018204.1:c.2677G>A	XP_016873693.1:p.Ala893Thr
XM_024448668.1:c.3088G>A	XP_024304436.1:p.Ala1030Thr
XR_001747945.2:n.4757G>A
XR_001747946.2:n.4688G>A
XR_002957189.1:n.6471G>A
NM_000352.6:c.4720G>A MANE Select	NP_000343.2:p.Ala1574Thr
NM_001287174.2:c.4723G>A	NP_001274103.1:p.Ala1575Thr
NM_001351295.2:c.4786G>A	NP_001338224.1:p.Ala1596Thr
NM_001351296.2:c.4720G>A	NP_001338225.1:p.Ala1574Thr
NM_001351297.2:c.4717G>A	NP_001338226.1:p.Ala1573Thr
NR_147094.2:n.5015G>A
NM_001287174.3:c.4723G>A	NP_001274103.1:p.Ala1575Thr