Canonical Allele Identifier: CA473298020

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1609839
• ClinVar RCV Id: RCV002155343
• dbSNP Id: rs1591703934
• gnomAD v4: 11-17393712-A-G
• MyVariant Identifiers: chr11:g.17415259A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393712A>G , CM000673.2:g.17393712A>G	GRCh38
NC_000011.9:g.17415259A>G , CM000673.1:g.17415259A>G	GRCh37
NC_000011.8:g.17371835A>G	NCBI36
NG_008867.1:g.88191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4194T>C
ENST00000526037.6:n.528T>C
ENST00000528374.2:c.1184T>C
ENST00000529967.6:n.2932T>C
ENST00000532220.2:n.3826T>C
ENST00000642611.2:n.5926T>C
ENST00000644057.2:n.1169T>C
ENST00000645004.2:n.2092T>C
ENST00000682051.1:n.4755T>C
ENST00000682110.1:n.4808T>C
ENST00000682140.1:c.*379T>C	ENSP00000507829.1:n.*379T>C
ENST00000682185.1:n.5898T>C
ENST00000682204.1:c.*2731T>C	ENSP00000507094.1:n.*2731T>C
ENST00000682215.1:n.5175T>C
ENST00000682288.1:c.*3024T>C	ENSP00000507506.1:n.*3024T>C
ENST00000682442.1:n.5028T>C
ENST00000682528.1:n.4885T>C
ENST00000682673.1:n.4752T>C
ENST00000682805.1:n.5213T>C
ENST00000682965.1:c.*1015T>C	ENSP00000508229.1:n.*1015T>C
ENST00000683093.1:n.5788T>C
ENST00000683136.1:c.4476T>C	ENSP00000507768.1:p.Thr1492=
ENST00000683153.1:n.4850T>C
ENST00000683365.1:n.4910T>C
ENST00000683377.1:n.4704T>C
ENST00000683456.1:c.*1730T>C	ENSP00000508318.1:n.*1730T>C
ENST00000683522.1:n.4890T>C
ENST00000683562.1:c.*2658T>C	ENSP00000508265.1:n.*2658T>C
ENST00000683693.1:n.6269T>C
ENST00000683725.1:c.*58T>C	ENSP00000507496.1:n.*58T>C
ENST00000684010.1:n.4803T>C
ENST00000684014.1:n.780T>C
ENST00000684157.1:n.5793T>C
ENST00000684253.1:n.4711T>C
ENST00000684288.1:c.*2765T>C	ENSP00000507143.1:n.*2765T>C
ENST00000684313.1:n.4240T>C
ENST00000684332.1:n.4881T>C
ENST00000684371.1:n.4914T>C
ENST00000684404.1:n.5836T>C
ENST00000684442.1:n.5032T>C
ENST00000684555.1:c.*2805T>C	ENSP00000507705.1:n.*2805T>C
ENST00000684571.1:c.4434T>C	ENSP00000506935.1:p.Thr1478=
ENST00000684593.1:c.*4298T>C	ENSP00000507005.1:n.*4298T>C
ENST00000684711.1:c.*2989T>C	ENSP00000506841.1:n.*2989T>C
ENST00000302539.9:c.4596T>C	ENSP00000303960.4:p.Thr1532=
ENST00000389817.8:c.4593T>C MANE Select	ENSP00000374467.4:p.Thr1531=
ENST00000642271.1:c.4590T>C	ENSP00000493749.1:p.Thr1530=
ENST00000642579.1:c.2647T>C
ENST00000642611.1:n.5811T>C
ENST00000642902.1:c.4375T>C
ENST00000643260.1:c.4593T>C	ENSP00000494450.1:p.Thr1531=
ENST00000643562.1:c.*2715T>C	ENSP00000496124.1:n.*2715T>C
ENST00000643925.1:c.3185+554T>C
ENST00000644057.1:n.752T>C
ENST00000644484.1:c.*3979T>C	ENSP00000493558.1:n.*3979T>C
ENST00000644675.1:c.*2765T>C	ENSP00000494567.1:n.*2765T>C
ENST00000644757.1:c.*3203-732T>C	ENSP00000495085.1:n.*3203-732T>C
ENST00000644772.1:c.4659T>C	ENSP00000494321.1:p.Thr1553=
ENST00000645004.1:n.2286T>C
ENST00000645076.1:c.3688T>C
ENST00000645417.1:c.1781T>C
ENST00000645744.1:c.*4278T>C	ENSP00000494564.1:n.*4278T>C
ENST00000645760.1:c.5014T>C
ENST00000645884.1:c.*1876T>C	ENSP00000495516.1:n.*1876T>C
ENST00000646003.1:c.*2615T>C	ENSP00000495259.1:n.*2615T>C
ENST00000646207.1:c.*3430T>C	ENSP00000495025.1:n.*3430T>C
ENST00000646276.1:c.*3997T>C	ENSP00000496070.1:n.*3997T>C
ENST00000646592.1:c.3899T>C
ENST00000646902.1:c.4560T>C	ENSP00000494101.1:p.Thr1520=
ENST00000646993.1:c.*3031T>C	ENSP00000493720.1:n.*3031T>C
ENST00000647015.1:c.4344T>C	ENSP00000495389.1:p.Thr1448=
ENST00000647086.1:c.*4179T>C	ENSP00000493677.1:n.*4179T>C
ENST00000647158.1:c.*2880T>C	ENSP00000495744.1:n.*2880T>C
ENST00000302539.8:c.4596T>C	ENSP00000303960.4:p.Thr1532=
ENST00000389817.7:c.4593T>C	ENSP00000374467.3:p.Thr1531=
ENST00000525022.1:n.488T>C
ENST00000526037.5:n.353T>C
ENST00000526168.5:c.381T>C
ENST00000531642.5:c.624T>C
NM_000352.4:c.4593T>C	NP_000343.2:p.Thr1531=
NM_001287174.1:c.4596T>C	NP_001274103.1:p.Thr1532=
XM_011520331.1:c.4593T>C	XP_011518633.1:p.Thr1531=
XM_011520333.1:c.3093T>C	XP_011518635.1:p.Thr1031=
XR_930890.1:n.4555T>C
NM_001351295.1:c.4659T>C	NP_001338224.1:p.Thr1553=
NM_001351296.1:c.4593T>C	NP_001338225.1:p.Thr1531=
NM_001351297.1:c.4590T>C	NP_001338226.1:p.Thr1530=
NR_147094.1:n.4888T>C
XM_017018197.2:c.4662T>C	XP_016873686.1:p.Thr1554=
XM_017018199.1:c.4659T>C	XP_016873688.1:p.Thr1553=
XM_017018202.1:c.3159T>C	XP_016873691.1:p.Thr1053=
XM_017018204.1:c.2550T>C	XP_016873693.1:p.Thr850=
XM_024448668.1:c.2961T>C	XP_024304436.1:p.Thr987=
XR_001747945.2:n.4630T>C
XR_001747946.2:n.4561T>C
XR_002957189.1:n.6344T>C
NM_000352.6:c.4593T>C MANE Select	NP_000343.2:p.Thr1531=
NM_001287174.2:c.4596T>C	NP_001274103.1:p.Thr1532=
NM_001351295.2:c.4659T>C	NP_001338224.1:p.Thr1553=
NM_001351296.2:c.4593T>C	NP_001338225.1:p.Thr1531=
NM_001351297.2:c.4590T>C	NP_001338226.1:p.Thr1530=
NR_147094.2:n.4888T>C
NM_001287174.3:c.4596T>C	NP_001274103.1:p.Thr1532=