Canonical Allele Identifier: CA379782618

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2810017
• ClinVar RCV Id: RCV003680243
• MyVariant Identifiers: chr11:g.17415812C>G (hg19) ; chr11:g.17394265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394265C>G , CM000673.2:g.17394265C>G	GRCh38
NC_000011.9:g.17415812C>G , CM000673.1:g.17415812C>G	GRCh37
NC_000011.8:g.17372388C>G	NCBI36
NG_008867.1:g.87638G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4146+1G>C
ENST00000526037.6:n.480+1G>C
ENST00000528374.2:c.1136+1G>C
ENST00000529967.6:n.2884+1G>C
ENST00000532220.2:n.3778+1G>C
ENST00000642611.2:n.5878+1G>C
ENST00000644057.2:n.1121+1G>C
ENST00000645004.2:n.2044+1G>C
ENST00000682051.1:n.4707+1G>C
ENST00000682110.1:n.4760+1G>C
ENST00000682140.1:c.*331+1G>C	ENSP00000507829.1:n.*331+1G>C
ENST00000682185.1:n.5850+1G>C
ENST00000682204.1:c.*2683+1G>C	ENSP00000507094.1:n.*2683+1G>C
ENST00000682215.1:n.5127+1G>C
ENST00000682288.1:c.*2976+1G>C	ENSP00000507506.1:n.*2976+1G>C
ENST00000682442.1:n.4980+1G>C
ENST00000682528.1:n.4837+1G>C
ENST00000682673.1:n.4704+1G>C
ENST00000682805.1:n.5165+1G>C
ENST00000682965.1:c.*967+1G>C	ENSP00000508229.1:n.*967+1G>C
ENST00000683093.1:n.5740+1G>C
ENST00000683136.1:c.4428+1G>C	ENSP00000507768.1:n.4428+1G>C
ENST00000683153.1:n.4802+1G>C
ENST00000683365.1:n.4862+1G>C
ENST00000683377.1:n.4656+1G>C
ENST00000683456.1:c.*1682+1G>C	ENSP00000508318.1:n.*1682+1G>C
ENST00000683522.1:n.4842+1G>C
ENST00000683562.1:c.*2610+1G>C	ENSP00000508265.1:n.*2610+1G>C
ENST00000683693.1:n.6221+1G>C
ENST00000683725.1:c.*10+1G>C	ENSP00000507496.1:n.*10+1G>C
ENST00000684010.1:n.4755+1G>C
ENST00000684014.1:n.732+1G>C
ENST00000684157.1:n.5745+1G>C
ENST00000684253.1:n.4663+1G>C
ENST00000684288.1:c.*2717+1G>C	ENSP00000507143.1:n.*2717+1G>C
ENST00000684313.1:n.4192+1G>C
ENST00000684332.1:n.4833+1G>C
ENST00000684371.1:n.4866+1G>C
ENST00000684404.1:n.5788+1G>C
ENST00000684442.1:n.4984+1G>C
ENST00000684555.1:c.*2757+1G>C	ENSP00000507705.1:n.*2757+1G>C
ENST00000684571.1:c.4386+1G>C	ENSP00000506935.1:n.4386+1G>C
ENST00000684593.1:c.*4250+1G>C	ENSP00000507005.1:n.*4250+1G>C
ENST00000684711.1:c.*2941+1G>C	ENSP00000506841.1:n.*2941+1G>C
ENST00000302539.9:c.4548+1G>C	ENSP00000303960.4:n.4548+1G>C
ENST00000389817.8:c.4545+1G>C MANE Select	ENSP00000374467.4:n.4545+1G>C
ENST00000642271.1:c.4542+1G>C	ENSP00000493749.1:n.4542+1G>C
ENST00000642579.1:c.2599+1G>C
ENST00000642611.1:n.5763+1G>C
ENST00000642902.1:c.4327+1G>C
ENST00000643260.1:c.4545+1G>C	ENSP00000494450.1:n.4545+1G>C
ENST00000643562.1:c.*2667+1G>C	ENSP00000496124.1:n.*2667+1G>C
ENST00000643925.1:c.3185+1G>C
ENST00000644057.1:n.704+1G>C
ENST00000644484.1:c.*3931+1G>C	ENSP00000493558.1:n.*3931+1G>C
ENST00000644675.1:c.*2717+1G>C	ENSP00000494567.1:n.*2717+1G>C
ENST00000644757.1:c.*3203-1285G>C	ENSP00000495085.1:n.*3203-1285G>C
ENST00000644772.1:c.4611+1G>C	ENSP00000494321.1:n.4611+1G>C
ENST00000645004.1:n.2238+1G>C
ENST00000645076.1:c.3640+1G>C
ENST00000645417.1:c.1733+1G>C
ENST00000645744.1:c.*4230+1G>C	ENSP00000494564.1:n.*4230+1G>C
ENST00000645760.1:c.4966+1G>C
ENST00000645884.1:c.*1828+1G>C	ENSP00000495516.1:n.*1828+1G>C
ENST00000646003.1:c.*2567+1G>C	ENSP00000495259.1:n.*2567+1G>C
ENST00000646207.1:c.*3382+1G>C	ENSP00000495025.1:n.*3382+1G>C
ENST00000646276.1:c.*3949+1G>C	ENSP00000496070.1:n.*3949+1G>C
ENST00000646592.1:c.3851+1G>C
ENST00000646902.1:c.4512+1G>C	ENSP00000494101.1:n.4512+1G>C
ENST00000646993.1:c.*2983+1G>C	ENSP00000493720.1:n.*2983+1G>C
ENST00000647015.1:c.4296+1G>C	ENSP00000495389.1:n.4296+1G>C
ENST00000647086.1:c.*4131+1G>C	ENSP00000493677.1:n.*4131+1G>C
ENST00000647158.1:c.*2832+1G>C	ENSP00000495744.1:n.*2832+1G>C
ENST00000302539.8:c.4548+1G>C	ENSP00000303960.4:n.4548+1G>C
ENST00000389817.7:c.4545+1G>C	ENSP00000374467.3:n.4545+1G>C
ENST00000525022.1:n.440+1G>C
ENST00000526037.5:n.305+1G>C
ENST00000526168.5:c.333+1G>C
ENST00000531642.5:c.576+1G>C
NM_000352.4:c.4545+1G>C	NP_000343.2:n.4545+1G>C
NM_001287174.1:c.4548+1G>C	NP_001274103.1:n.4548+1G>C
XM_011520331.1:c.4545+1G>C	XP_011518633.1:n.4545+1G>C
XM_011520332.1:c.*11G>C	XP_011518634.1:n.*11G>C
XM_011520333.1:c.3045+1G>C	XP_011518635.1:n.3045+1G>C
XR_930890.1:n.4507+1G>C
NM_001351295.1:c.4611+1G>C	NP_001338224.1:n.4611+1G>C
NM_001351296.1:c.4545+1G>C	NP_001338225.1:n.4545+1G>C
NM_001351297.1:c.4542+1G>C	NP_001338226.1:n.4542+1G>C
NR_147094.1:n.4840+1G>C
XM_017018197.2:c.4614+1G>C	XP_016873686.1:n.4614+1G>C
XM_017018199.1:c.4611+1G>C	XP_016873688.1:n.4611+1G>C
XM_017018201.2:c.*11G>C	XP_016873690.1:n.*11G>C
XM_017018202.1:c.3111+1G>C	XP_016873691.1:n.3111+1G>C
XM_017018204.1:c.2502+1G>C	XP_016873693.1:n.2502+1G>C
XM_024448668.1:c.2913+1G>C	XP_024304436.1:n.2913+1G>C
XR_001747945.2:n.4582+1G>C
XR_001747946.2:n.4513+1G>C
XR_002957189.1:n.6296+1G>C
NM_000352.6:c.4545+1G>C MANE Select	NP_000343.2:n.4545+1G>C
NM_001287174.2:c.4548+1G>C	NP_001274103.1:n.4548+1G>C
NM_001351295.2:c.4611+1G>C	NP_001338224.1:n.4611+1G>C
NM_001351296.2:c.4545+1G>C	NP_001338225.1:n.4545+1G>C
NM_001351297.2:c.4542+1G>C	NP_001338226.1:n.4542+1G>C
NR_147094.2:n.4840+1G>C
NM_001287174.3:c.4548+1G>C	NP_001274103.1:n.4548+1G>C