Canonical Allele Identifier: CA2612636361

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394123-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394123C>T , CM000673.2:g.17394123C>T	GRCh38
NC_000011.9:g.17415670C>T , CM000673.1:g.17415670C>T	GRCh37
NC_000011.8:g.17372246C>T	NCBI36
NG_008867.1:g.87780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4146+143G>A
ENST00000526037.6:n.480+143G>A
ENST00000528374.2:c.1136+143G>A
ENST00000529967.6:n.2884+143G>A
ENST00000532220.2:n.3778+143G>A
ENST00000642611.2:n.5878+143G>A
ENST00000644057.2:n.1121+143G>A
ENST00000645004.2:n.2044+143G>A
ENST00000682051.1:n.4707+143G>A
ENST00000682110.1:n.4760+143G>A
ENST00000682140.1:c.*331+143G>A	ENSP00000507829.1:n.*331+143G>A
ENST00000682185.1:n.5850+143G>A
ENST00000682204.1:c.*2683+143G>A	ENSP00000507094.1:n.*2683+143G>A
ENST00000682215.1:n.5127+143G>A
ENST00000682288.1:c.*2976+143G>A	ENSP00000507506.1:n.*2976+143G>A
ENST00000682442.1:n.4980+143G>A
ENST00000682528.1:n.4837+143G>A
ENST00000682673.1:n.4704+143G>A
ENST00000682805.1:n.5165+143G>A
ENST00000682965.1:c.*967+143G>A	ENSP00000508229.1:n.*967+143G>A
ENST00000683093.1:n.5740+143G>A
ENST00000683136.1:c.4428+143G>A	ENSP00000507768.1:n.4428+143G>A
ENST00000683153.1:n.4802+143G>A
ENST00000683365.1:n.4862+143G>A
ENST00000683377.1:n.4656+143G>A
ENST00000683456.1:c.*1682+143G>A	ENSP00000508318.1:n.*1682+143G>A
ENST00000683522.1:n.4842+143G>A
ENST00000683562.1:c.*2610+143G>A	ENSP00000508265.1:n.*2610+143G>A
ENST00000683693.1:n.6221+143G>A
ENST00000683725.1:c.*10+143G>A	ENSP00000507496.1:n.*10+143G>A
ENST00000684010.1:n.4755+143G>A
ENST00000684014.1:n.732+143G>A
ENST00000684157.1:n.5745+143G>A
ENST00000684253.1:n.4663+143G>A
ENST00000684288.1:c.*2717+143G>A	ENSP00000507143.1:n.*2717+143G>A
ENST00000684313.1:n.4192+143G>A
ENST00000684332.1:n.4833+143G>A
ENST00000684371.1:n.4866+143G>A
ENST00000684404.1:n.5788+143G>A
ENST00000684442.1:n.4984+143G>A
ENST00000684555.1:c.*2757+143G>A	ENSP00000507705.1:n.*2757+143G>A
ENST00000684571.1:c.4386+143G>A	ENSP00000506935.1:n.4386+143G>A
ENST00000684593.1:c.*4250+143G>A	ENSP00000507005.1:n.*4250+143G>A
ENST00000684711.1:c.*2941+143G>A	ENSP00000506841.1:n.*2941+143G>A
ENST00000302539.9:c.4548+143G>A	ENSP00000303960.4:n.4548+143G>A
ENST00000389817.8:c.4545+143G>A MANE Select	ENSP00000374467.4:n.4545+143G>A
ENST00000642271.1:c.4542+143G>A	ENSP00000493749.1:n.4542+143G>A
ENST00000642579.1:c.2599+143G>A
ENST00000642611.1:n.5763+143G>A
ENST00000642902.1:c.4327+143G>A
ENST00000643260.1:c.4545+143G>A	ENSP00000494450.1:n.4545+143G>A
ENST00000643562.1:c.*2667+143G>A	ENSP00000496124.1:n.*2667+143G>A
ENST00000643925.1:c.3185+143G>A
ENST00000644057.1:n.704+143G>A
ENST00000644484.1:c.*3931+143G>A	ENSP00000493558.1:n.*3931+143G>A
ENST00000644675.1:c.*2717+143G>A	ENSP00000494567.1:n.*2717+143G>A
ENST00000644757.1:c.*3203-1143G>A	ENSP00000495085.1:n.*3203-1143G>A
ENST00000644772.1:c.4611+143G>A	ENSP00000494321.1:n.4611+143G>A
ENST00000645004.1:n.2238+143G>A
ENST00000645076.1:c.3640+143G>A
ENST00000645417.1:c.1733+143G>A
ENST00000645744.1:c.*4230+143G>A	ENSP00000494564.1:n.*4230+143G>A
ENST00000645760.1:c.4966+143G>A
ENST00000645884.1:c.*1828+143G>A	ENSP00000495516.1:n.*1828+143G>A
ENST00000646003.1:c.*2567+143G>A	ENSP00000495259.1:n.*2567+143G>A
ENST00000646207.1:c.*3382+143G>A	ENSP00000495025.1:n.*3382+143G>A
ENST00000646276.1:c.*3949+143G>A	ENSP00000496070.1:n.*3949+143G>A
ENST00000646592.1:c.3851+143G>A
ENST00000646902.1:c.4512+143G>A	ENSP00000494101.1:n.4512+143G>A
ENST00000646993.1:c.*2983+143G>A	ENSP00000493720.1:n.*2983+143G>A
ENST00000647015.1:c.4296+143G>A	ENSP00000495389.1:n.4296+143G>A
ENST00000647086.1:c.*4131+143G>A	ENSP00000493677.1:n.*4131+143G>A
ENST00000647158.1:c.*2832+143G>A	ENSP00000495744.1:n.*2832+143G>A
ENST00000302539.8:c.4548+143G>A	ENSP00000303960.4:n.4548+143G>A
ENST00000389817.7:c.4545+143G>A	ENSP00000374467.3:n.4545+143G>A
ENST00000525022.1:n.440+143G>A
ENST00000526037.5:n.305+143G>A
ENST00000526168.5:c.333+143G>A
ENST00000531642.5:c.576+143G>A
NM_000352.4:c.4545+143G>A	NP_000343.2:n.4545+143G>A
NM_001287174.1:c.4548+143G>A	NP_001274103.1:n.4548+143G>A
XM_011520331.1:c.4545+143G>A	XP_011518633.1:n.4545+143G>A
XM_011520333.1:c.3045+143G>A	XP_011518635.1:n.3045+143G>A
XR_930890.1:n.4507+143G>A
NM_001351295.1:c.4611+143G>A	NP_001338224.1:n.4611+143G>A
NM_001351296.1:c.4545+143G>A	NP_001338225.1:n.4545+143G>A
NM_001351297.1:c.4542+143G>A	NP_001338226.1:n.4542+143G>A
NR_147094.1:n.4840+143G>A
XM_017018197.2:c.4614+143G>A	XP_016873686.1:n.4614+143G>A
XM_017018199.1:c.4611+143G>A	XP_016873688.1:n.4611+143G>A
XM_017018202.1:c.3111+143G>A	XP_016873691.1:n.3111+143G>A
XM_017018204.1:c.2502+143G>A	XP_016873693.1:n.2502+143G>A
XM_024448668.1:c.2913+143G>A	XP_024304436.1:n.2913+143G>A
XR_001747945.2:n.4582+143G>A
XR_001747946.2:n.4513+143G>A
XR_002957189.1:n.6296+143G>A
NM_000352.6:c.4545+143G>A MANE Select	NP_000343.2:n.4545+143G>A
NM_001287174.2:c.4548+143G>A	NP_001274103.1:n.4548+143G>A
NM_001351295.2:c.4611+143G>A	NP_001338224.1:n.4611+143G>A
NM_001351296.2:c.4545+143G>A	NP_001338225.1:n.4545+143G>A
NM_001351297.2:c.4542+143G>A	NP_001338226.1:n.4542+143G>A
NR_147094.2:n.4840+143G>A
NM_001287174.3:c.4548+143G>A	NP_001274103.1:n.4548+143G>A