Canonical Allele Identifier: CA218406633

Gene: ABCC8

Linked Data

• dbSNP Id: rs953966806
• gnomAD v2: 11-17415729-A-G
• gnomAD v3: 11-17394182-A-G
• gnomAD v4: 11-17394182-A-G
• MyVariant Identifiers: chr11:g.17415729A>G (hg19) ; chr11:g.17394182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394182A>G , CM000673.2:g.17394182A>G	GRCh38
NC_000011.9:g.17415729A>G , CM000673.1:g.17415729A>G	GRCh37
NC_000011.8:g.17372305A>G	NCBI36
NG_008867.1:g.87721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4146+84T>C
ENST00000526037.6:n.480+84T>C
ENST00000528374.2:c.1136+84T>C
ENST00000529967.6:n.2884+84T>C
ENST00000532220.2:n.3778+84T>C
ENST00000642611.2:n.5878+84T>C
ENST00000644057.2:n.1121+84T>C
ENST00000645004.2:n.2044+84T>C
ENST00000682051.1:n.4707+84T>C
ENST00000682110.1:n.4760+84T>C
ENST00000682140.1:c.*331+84T>C	ENSP00000507829.1:n.*331+84T>C
ENST00000682185.1:n.5850+84T>C
ENST00000682204.1:c.*2683+84T>C	ENSP00000507094.1:n.*2683+84T>C
ENST00000682215.1:n.5127+84T>C
ENST00000682288.1:c.*2976+84T>C	ENSP00000507506.1:n.*2976+84T>C
ENST00000682442.1:n.4980+84T>C
ENST00000682528.1:n.4837+84T>C
ENST00000682673.1:n.4704+84T>C
ENST00000682805.1:n.5165+84T>C
ENST00000682965.1:c.*967+84T>C	ENSP00000508229.1:n.*967+84T>C
ENST00000683093.1:n.5740+84T>C
ENST00000683136.1:c.4428+84T>C	ENSP00000507768.1:n.4428+84T>C
ENST00000683153.1:n.4802+84T>C
ENST00000683365.1:n.4862+84T>C
ENST00000683377.1:n.4656+84T>C
ENST00000683456.1:c.*1682+84T>C	ENSP00000508318.1:n.*1682+84T>C
ENST00000683522.1:n.4842+84T>C
ENST00000683562.1:c.*2610+84T>C	ENSP00000508265.1:n.*2610+84T>C
ENST00000683693.1:n.6221+84T>C
ENST00000683725.1:c.*10+84T>C	ENSP00000507496.1:n.*10+84T>C
ENST00000684010.1:n.4755+84T>C
ENST00000684014.1:n.732+84T>C
ENST00000684157.1:n.5745+84T>C
ENST00000684253.1:n.4663+84T>C
ENST00000684288.1:c.*2717+84T>C	ENSP00000507143.1:n.*2717+84T>C
ENST00000684313.1:n.4192+84T>C
ENST00000684332.1:n.4833+84T>C
ENST00000684371.1:n.4866+84T>C
ENST00000684404.1:n.5788+84T>C
ENST00000684442.1:n.4984+84T>C
ENST00000684555.1:c.*2757+84T>C	ENSP00000507705.1:n.*2757+84T>C
ENST00000684571.1:c.4386+84T>C	ENSP00000506935.1:n.4386+84T>C
ENST00000684593.1:c.*4250+84T>C	ENSP00000507005.1:n.*4250+84T>C
ENST00000684711.1:c.*2941+84T>C	ENSP00000506841.1:n.*2941+84T>C
ENST00000302539.9:c.4548+84T>C	ENSP00000303960.4:n.4548+84T>C
ENST00000389817.8:c.4545+84T>C MANE Select	ENSP00000374467.4:n.4545+84T>C
ENST00000642271.1:c.4542+84T>C	ENSP00000493749.1:n.4542+84T>C
ENST00000642579.1:c.2599+84T>C
ENST00000642611.1:n.5763+84T>C
ENST00000642902.1:c.4327+84T>C
ENST00000643260.1:c.4545+84T>C	ENSP00000494450.1:n.4545+84T>C
ENST00000643562.1:c.*2667+84T>C	ENSP00000496124.1:n.*2667+84T>C
ENST00000643925.1:c.3185+84T>C
ENST00000644057.1:n.704+84T>C
ENST00000644484.1:c.*3931+84T>C	ENSP00000493558.1:n.*3931+84T>C
ENST00000644675.1:c.*2717+84T>C	ENSP00000494567.1:n.*2717+84T>C
ENST00000644757.1:c.*3203-1202T>C	ENSP00000495085.1:n.*3203-1202T>C
ENST00000644772.1:c.4611+84T>C	ENSP00000494321.1:n.4611+84T>C
ENST00000645004.1:n.2238+84T>C
ENST00000645076.1:c.3640+84T>C
ENST00000645417.1:c.1733+84T>C
ENST00000645744.1:c.*4230+84T>C	ENSP00000494564.1:n.*4230+84T>C
ENST00000645760.1:c.4966+84T>C
ENST00000645884.1:c.*1828+84T>C	ENSP00000495516.1:n.*1828+84T>C
ENST00000646003.1:c.*2567+84T>C	ENSP00000495259.1:n.*2567+84T>C
ENST00000646207.1:c.*3382+84T>C	ENSP00000495025.1:n.*3382+84T>C
ENST00000646276.1:c.*3949+84T>C	ENSP00000496070.1:n.*3949+84T>C
ENST00000646592.1:c.3851+84T>C
ENST00000646902.1:c.4512+84T>C	ENSP00000494101.1:n.4512+84T>C
ENST00000646993.1:c.*2983+84T>C	ENSP00000493720.1:n.*2983+84T>C
ENST00000647015.1:c.4296+84T>C	ENSP00000495389.1:n.4296+84T>C
ENST00000647086.1:c.*4131+84T>C	ENSP00000493677.1:n.*4131+84T>C
ENST00000647158.1:c.*2832+84T>C	ENSP00000495744.1:n.*2832+84T>C
ENST00000302539.8:c.4548+84T>C	ENSP00000303960.4:n.4548+84T>C
ENST00000389817.7:c.4545+84T>C	ENSP00000374467.3:n.4545+84T>C
ENST00000525022.1:n.440+84T>C
ENST00000526037.5:n.305+84T>C
ENST00000526168.5:c.333+84T>C
ENST00000531642.5:c.576+84T>C
NM_000352.4:c.4545+84T>C	NP_000343.2:n.4545+84T>C
NM_001287174.1:c.4548+84T>C	NP_001274103.1:n.4548+84T>C
XM_011520331.1:c.4545+84T>C	XP_011518633.1:n.4545+84T>C
XM_011520333.1:c.3045+84T>C	XP_011518635.1:n.3045+84T>C
XR_930890.1:n.4507+84T>C
NM_001351295.1:c.4611+84T>C	NP_001338224.1:n.4611+84T>C
NM_001351296.1:c.4545+84T>C	NP_001338225.1:n.4545+84T>C
NM_001351297.1:c.4542+84T>C	NP_001338226.1:n.4542+84T>C
NR_147094.1:n.4840+84T>C
XM_017018197.2:c.4614+84T>C	XP_016873686.1:n.4614+84T>C
XM_017018199.1:c.4611+84T>C	XP_016873688.1:n.4611+84T>C
XM_017018202.1:c.3111+84T>C	XP_016873691.1:n.3111+84T>C
XM_017018204.1:c.2502+84T>C	XP_016873693.1:n.2502+84T>C
XM_024448668.1:c.2913+84T>C	XP_024304436.1:n.2913+84T>C
XR_001747945.2:n.4582+84T>C
XR_001747946.2:n.4513+84T>C
XR_002957189.1:n.6296+84T>C
NM_000352.6:c.4545+84T>C MANE Select	NP_000343.2:n.4545+84T>C
NM_001287174.2:c.4548+84T>C	NP_001274103.1:n.4548+84T>C
NM_001351295.2:c.4611+84T>C	NP_001338224.1:n.4611+84T>C
NM_001351296.2:c.4545+84T>C	NP_001338225.1:n.4545+84T>C
NM_001351297.2:c.4542+84T>C	NP_001338226.1:n.4542+84T>C
NR_147094.2:n.4840+84T>C
NM_001287174.3:c.4548+84T>C	NP_001274103.1:n.4548+84T>C