Canonical Allele Identifier: CA2612636392

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394134-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394134C>G , CM000673.2:g.17394134C>G	GRCh38
NC_000011.9:g.17415681C>G , CM000673.1:g.17415681C>G	GRCh37
NC_000011.8:g.17372257C>G	NCBI36
NG_008867.1:g.87769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4146+132G>C
ENST00000526037.6:n.480+132G>C
ENST00000528374.2:c.1136+132G>C
ENST00000529967.6:n.2884+132G>C
ENST00000532220.2:n.3778+132G>C
ENST00000642611.2:n.5878+132G>C
ENST00000644057.2:n.1121+132G>C
ENST00000645004.2:n.2044+132G>C
ENST00000682051.1:n.4707+132G>C
ENST00000682110.1:n.4760+132G>C
ENST00000682140.1:c.*331+132G>C	ENSP00000507829.1:n.*331+132G>C
ENST00000682185.1:n.5850+132G>C
ENST00000682204.1:c.*2683+132G>C	ENSP00000507094.1:n.*2683+132G>C
ENST00000682215.1:n.5127+132G>C
ENST00000682288.1:c.*2976+132G>C	ENSP00000507506.1:n.*2976+132G>C
ENST00000682442.1:n.4980+132G>C
ENST00000682528.1:n.4837+132G>C
ENST00000682673.1:n.4704+132G>C
ENST00000682805.1:n.5165+132G>C
ENST00000682965.1:c.*967+132G>C	ENSP00000508229.1:n.*967+132G>C
ENST00000683093.1:n.5740+132G>C
ENST00000683136.1:c.4428+132G>C	ENSP00000507768.1:n.4428+132G>C
ENST00000683153.1:n.4802+132G>C
ENST00000683365.1:n.4862+132G>C
ENST00000683377.1:n.4656+132G>C
ENST00000683456.1:c.*1682+132G>C	ENSP00000508318.1:n.*1682+132G>C
ENST00000683522.1:n.4842+132G>C
ENST00000683562.1:c.*2610+132G>C	ENSP00000508265.1:n.*2610+132G>C
ENST00000683693.1:n.6221+132G>C
ENST00000683725.1:c.*10+132G>C	ENSP00000507496.1:n.*10+132G>C
ENST00000684010.1:n.4755+132G>C
ENST00000684014.1:n.732+132G>C
ENST00000684157.1:n.5745+132G>C
ENST00000684253.1:n.4663+132G>C
ENST00000684288.1:c.*2717+132G>C	ENSP00000507143.1:n.*2717+132G>C
ENST00000684313.1:n.4192+132G>C
ENST00000684332.1:n.4833+132G>C
ENST00000684371.1:n.4866+132G>C
ENST00000684404.1:n.5788+132G>C
ENST00000684442.1:n.4984+132G>C
ENST00000684555.1:c.*2757+132G>C	ENSP00000507705.1:n.*2757+132G>C
ENST00000684571.1:c.4386+132G>C	ENSP00000506935.1:n.4386+132G>C
ENST00000684593.1:c.*4250+132G>C	ENSP00000507005.1:n.*4250+132G>C
ENST00000684711.1:c.*2941+132G>C	ENSP00000506841.1:n.*2941+132G>C
ENST00000302539.9:c.4548+132G>C	ENSP00000303960.4:n.4548+132G>C
ENST00000389817.8:c.4545+132G>C MANE Select	ENSP00000374467.4:n.4545+132G>C
ENST00000642271.1:c.4542+132G>C	ENSP00000493749.1:n.4542+132G>C
ENST00000642579.1:c.2599+132G>C
ENST00000642611.1:n.5763+132G>C
ENST00000642902.1:c.4327+132G>C
ENST00000643260.1:c.4545+132G>C	ENSP00000494450.1:n.4545+132G>C
ENST00000643562.1:c.*2667+132G>C	ENSP00000496124.1:n.*2667+132G>C
ENST00000643925.1:c.3185+132G>C
ENST00000644057.1:n.704+132G>C
ENST00000644484.1:c.*3931+132G>C	ENSP00000493558.1:n.*3931+132G>C
ENST00000644675.1:c.*2717+132G>C	ENSP00000494567.1:n.*2717+132G>C
ENST00000644757.1:c.*3203-1154G>C	ENSP00000495085.1:n.*3203-1154G>C
ENST00000644772.1:c.4611+132G>C	ENSP00000494321.1:n.4611+132G>C
ENST00000645004.1:n.2238+132G>C
ENST00000645076.1:c.3640+132G>C
ENST00000645417.1:c.1733+132G>C
ENST00000645744.1:c.*4230+132G>C	ENSP00000494564.1:n.*4230+132G>C
ENST00000645760.1:c.4966+132G>C
ENST00000645884.1:c.*1828+132G>C	ENSP00000495516.1:n.*1828+132G>C
ENST00000646003.1:c.*2567+132G>C	ENSP00000495259.1:n.*2567+132G>C
ENST00000646207.1:c.*3382+132G>C	ENSP00000495025.1:n.*3382+132G>C
ENST00000646276.1:c.*3949+132G>C	ENSP00000496070.1:n.*3949+132G>C
ENST00000646592.1:c.3851+132G>C
ENST00000646902.1:c.4512+132G>C	ENSP00000494101.1:n.4512+132G>C
ENST00000646993.1:c.*2983+132G>C	ENSP00000493720.1:n.*2983+132G>C
ENST00000647015.1:c.4296+132G>C	ENSP00000495389.1:n.4296+132G>C
ENST00000647086.1:c.*4131+132G>C	ENSP00000493677.1:n.*4131+132G>C
ENST00000647158.1:c.*2832+132G>C	ENSP00000495744.1:n.*2832+132G>C
ENST00000302539.8:c.4548+132G>C	ENSP00000303960.4:n.4548+132G>C
ENST00000389817.7:c.4545+132G>C	ENSP00000374467.3:n.4545+132G>C
ENST00000525022.1:n.440+132G>C
ENST00000526037.5:n.305+132G>C
ENST00000526168.5:c.333+132G>C
ENST00000531642.5:c.576+132G>C
NM_000352.4:c.4545+132G>C	NP_000343.2:n.4545+132G>C
NM_001287174.1:c.4548+132G>C	NP_001274103.1:n.4548+132G>C
XM_011520331.1:c.4545+132G>C	XP_011518633.1:n.4545+132G>C
XM_011520333.1:c.3045+132G>C	XP_011518635.1:n.3045+132G>C
XR_930890.1:n.4507+132G>C
NM_001351295.1:c.4611+132G>C	NP_001338224.1:n.4611+132G>C
NM_001351296.1:c.4545+132G>C	NP_001338225.1:n.4545+132G>C
NM_001351297.1:c.4542+132G>C	NP_001338226.1:n.4542+132G>C
NR_147094.1:n.4840+132G>C
XM_017018197.2:c.4614+132G>C	XP_016873686.1:n.4614+132G>C
XM_017018199.1:c.4611+132G>C	XP_016873688.1:n.4611+132G>C
XM_017018202.1:c.3111+132G>C	XP_016873691.1:n.3111+132G>C
XM_017018204.1:c.2502+132G>C	XP_016873693.1:n.2502+132G>C
XM_024448668.1:c.2913+132G>C	XP_024304436.1:n.2913+132G>C
XR_001747945.2:n.4582+132G>C
XR_001747946.2:n.4513+132G>C
XR_002957189.1:n.6296+132G>C
NM_000352.6:c.4545+132G>C MANE Select	NP_000343.2:n.4545+132G>C
NM_001287174.2:c.4548+132G>C	NP_001274103.1:n.4548+132G>C
NM_001351295.2:c.4611+132G>C	NP_001338224.1:n.4611+132G>C
NM_001351296.2:c.4545+132G>C	NP_001338225.1:n.4545+132G>C
NM_001351297.2:c.4542+132G>C	NP_001338226.1:n.4542+132G>C
NR_147094.2:n.4840+132G>C
NM_001287174.3:c.4548+132G>C	NP_001274103.1:n.4548+132G>C