Canonical Allele Identifier: CA2612636570

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394223-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394223C>T , CM000673.2:g.17394223C>T	GRCh38
NC_000011.9:g.17415770C>T , CM000673.1:g.17415770C>T	GRCh37
NC_000011.8:g.17372346C>T	NCBI36
NG_008867.1:g.87680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4146+43G>A
ENST00000526037.6:n.480+43G>A
ENST00000528374.2:c.1136+43G>A
ENST00000529967.6:n.2884+43G>A
ENST00000532220.2:n.3778+43G>A
ENST00000642611.2:n.5878+43G>A
ENST00000644057.2:n.1121+43G>A
ENST00000645004.2:n.2044+43G>A
ENST00000682051.1:n.4707+43G>A
ENST00000682110.1:n.4760+43G>A
ENST00000682140.1:c.*331+43G>A	ENSP00000507829.1:n.*331+43G>A
ENST00000682185.1:n.5850+43G>A
ENST00000682204.1:c.*2683+43G>A	ENSP00000507094.1:n.*2683+43G>A
ENST00000682215.1:n.5127+43G>A
ENST00000682288.1:c.*2976+43G>A	ENSP00000507506.1:n.*2976+43G>A
ENST00000682442.1:n.4980+43G>A
ENST00000682528.1:n.4837+43G>A
ENST00000682673.1:n.4704+43G>A
ENST00000682805.1:n.5165+43G>A
ENST00000682965.1:c.*967+43G>A	ENSP00000508229.1:n.*967+43G>A
ENST00000683093.1:n.5740+43G>A
ENST00000683136.1:c.4428+43G>A	ENSP00000507768.1:n.4428+43G>A
ENST00000683153.1:n.4802+43G>A
ENST00000683365.1:n.4862+43G>A
ENST00000683377.1:n.4656+43G>A
ENST00000683456.1:c.*1682+43G>A	ENSP00000508318.1:n.*1682+43G>A
ENST00000683522.1:n.4842+43G>A
ENST00000683562.1:c.*2610+43G>A	ENSP00000508265.1:n.*2610+43G>A
ENST00000683693.1:n.6221+43G>A
ENST00000683725.1:c.*10+43G>A	ENSP00000507496.1:n.*10+43G>A
ENST00000684010.1:n.4755+43G>A
ENST00000684014.1:n.732+43G>A
ENST00000684157.1:n.5745+43G>A
ENST00000684253.1:n.4663+43G>A
ENST00000684288.1:c.*2717+43G>A	ENSP00000507143.1:n.*2717+43G>A
ENST00000684313.1:n.4192+43G>A
ENST00000684332.1:n.4833+43G>A
ENST00000684371.1:n.4866+43G>A
ENST00000684404.1:n.5788+43G>A
ENST00000684442.1:n.4984+43G>A
ENST00000684555.1:c.*2757+43G>A	ENSP00000507705.1:n.*2757+43G>A
ENST00000684571.1:c.4386+43G>A	ENSP00000506935.1:n.4386+43G>A
ENST00000684593.1:c.*4250+43G>A	ENSP00000507005.1:n.*4250+43G>A
ENST00000684711.1:c.*2941+43G>A	ENSP00000506841.1:n.*2941+43G>A
ENST00000302539.9:c.4548+43G>A	ENSP00000303960.4:n.4548+43G>A
ENST00000389817.8:c.4545+43G>A MANE Select	ENSP00000374467.4:n.4545+43G>A
ENST00000642271.1:c.4542+43G>A	ENSP00000493749.1:n.4542+43G>A
ENST00000642579.1:c.2599+43G>A
ENST00000642611.1:n.5763+43G>A
ENST00000642902.1:c.4327+43G>A
ENST00000643260.1:c.4545+43G>A	ENSP00000494450.1:n.4545+43G>A
ENST00000643562.1:c.*2667+43G>A	ENSP00000496124.1:n.*2667+43G>A
ENST00000643925.1:c.3185+43G>A
ENST00000644057.1:n.704+43G>A
ENST00000644484.1:c.*3931+43G>A	ENSP00000493558.1:n.*3931+43G>A
ENST00000644675.1:c.*2717+43G>A	ENSP00000494567.1:n.*2717+43G>A
ENST00000644757.1:c.*3203-1243G>A	ENSP00000495085.1:n.*3203-1243G>A
ENST00000644772.1:c.4611+43G>A	ENSP00000494321.1:n.4611+43G>A
ENST00000645004.1:n.2238+43G>A
ENST00000645076.1:c.3640+43G>A
ENST00000645417.1:c.1733+43G>A
ENST00000645744.1:c.*4230+43G>A	ENSP00000494564.1:n.*4230+43G>A
ENST00000645760.1:c.4966+43G>A
ENST00000645884.1:c.*1828+43G>A	ENSP00000495516.1:n.*1828+43G>A
ENST00000646003.1:c.*2567+43G>A	ENSP00000495259.1:n.*2567+43G>A
ENST00000646207.1:c.*3382+43G>A	ENSP00000495025.1:n.*3382+43G>A
ENST00000646276.1:c.*3949+43G>A	ENSP00000496070.1:n.*3949+43G>A
ENST00000646592.1:c.3851+43G>A
ENST00000646902.1:c.4512+43G>A	ENSP00000494101.1:n.4512+43G>A
ENST00000646993.1:c.*2983+43G>A	ENSP00000493720.1:n.*2983+43G>A
ENST00000647015.1:c.4296+43G>A	ENSP00000495389.1:n.4296+43G>A
ENST00000647086.1:c.*4131+43G>A	ENSP00000493677.1:n.*4131+43G>A
ENST00000647158.1:c.*2832+43G>A	ENSP00000495744.1:n.*2832+43G>A
ENST00000302539.8:c.4548+43G>A	ENSP00000303960.4:n.4548+43G>A
ENST00000389817.7:c.4545+43G>A	ENSP00000374467.3:n.4545+43G>A
ENST00000525022.1:n.440+43G>A
ENST00000526037.5:n.305+43G>A
ENST00000526168.5:c.333+43G>A
ENST00000531642.5:c.576+43G>A
NM_000352.4:c.4545+43G>A	NP_000343.2:n.4545+43G>A
NM_001287174.1:c.4548+43G>A	NP_001274103.1:n.4548+43G>A
XM_011520331.1:c.4545+43G>A	XP_011518633.1:n.4545+43G>A
XM_011520333.1:c.3045+43G>A	XP_011518635.1:n.3045+43G>A
XR_930890.1:n.4507+43G>A
NM_001351295.1:c.4611+43G>A	NP_001338224.1:n.4611+43G>A
NM_001351296.1:c.4545+43G>A	NP_001338225.1:n.4545+43G>A
NM_001351297.1:c.4542+43G>A	NP_001338226.1:n.4542+43G>A
NR_147094.1:n.4840+43G>A
XM_017018197.2:c.4614+43G>A	XP_016873686.1:n.4614+43G>A
XM_017018199.1:c.4611+43G>A	XP_016873688.1:n.4611+43G>A
XM_017018202.1:c.3111+43G>A	XP_016873691.1:n.3111+43G>A
XM_017018204.1:c.2502+43G>A	XP_016873693.1:n.2502+43G>A
XM_024448668.1:c.2913+43G>A	XP_024304436.1:n.2913+43G>A
XR_001747945.2:n.4582+43G>A
XR_001747946.2:n.4513+43G>A
XR_002957189.1:n.6296+43G>A
NM_000352.6:c.4545+43G>A MANE Select	NP_000343.2:n.4545+43G>A
NM_001287174.2:c.4548+43G>A	NP_001274103.1:n.4548+43G>A
NM_001351295.2:c.4611+43G>A	NP_001338224.1:n.4611+43G>A
NM_001351296.2:c.4545+43G>A	NP_001338225.1:n.4545+43G>A
NM_001351297.2:c.4542+43G>A	NP_001338226.1:n.4542+43G>A
NR_147094.2:n.4840+43G>A
NM_001287174.3:c.4548+43G>A	NP_001274103.1:n.4548+43G>A