Canonical Allele Identifier: CA379787189

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395700-C-A
• MyVariant Identifiers: chr11:g.17417247C>A (hg19) ; chr11:g.17395700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395700C>A , CM000673.2:g.17395700C>A	GRCh38
NC_000011.9:g.17417247C>A , CM000673.1:g.17417247C>A	GRCh37
NC_000011.8:g.17373823C>A	NCBI36
NG_008867.1:g.86203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3818G>T
ENST00000528374.2:c.808G>T
ENST00000529967.6:n.2556G>T
ENST00000532220.2:n.3450G>T
ENST00000642611.2:n.5550G>T
ENST00000644057.2:n.793G>T
ENST00000645004.2:n.1716G>T
ENST00000682051.1:n.4379G>T
ENST00000682110.1:n.4432G>T
ENST00000682140.1:c.*3G>T	ENSP00000507829.1:n.*3G>T
ENST00000682185.1:n.5522G>T
ENST00000682204.1:c.*2355G>T	ENSP00000507094.1:n.*2355G>T
ENST00000682215.1:n.4799G>T
ENST00000682288.1:c.*2648G>T	ENSP00000507506.1:n.*2648G>T
ENST00000682442.1:n.4652G>T
ENST00000682528.1:n.4509G>T
ENST00000682673.1:n.4376G>T
ENST00000682805.1:n.4837G>T
ENST00000682965.1:c.*639G>T	ENSP00000508229.1:n.*639G>T
ENST00000683093.1:n.5516G>T
ENST00000683136.1:c.4100G>T	ENSP00000507768.1:p.Gly1367Val
ENST00000683153.1:n.4474G>T
ENST00000683365.1:n.4534G>T
ENST00000683377.1:n.4432G>T
ENST00000683456.1:c.*1354G>T	ENSP00000508318.1:n.*1354G>T
ENST00000683522.1:n.4432G>T
ENST00000683562.1:c.*2386G>T	ENSP00000508265.1:n.*2386G>T
ENST00000683693.1:n.5997G>T
ENST00000683725.1:c.4217G>T	ENSP00000507496.1:p.Gly1406Val
ENST00000684010.1:n.4427G>T
ENST00000684157.1:n.5417G>T
ENST00000684253.1:n.4335G>T
ENST00000684288.1:c.*2389G>T	ENSP00000507143.1:n.*2389G>T
ENST00000684313.1:n.3864G>T
ENST00000684332.1:n.4505G>T
ENST00000684371.1:n.4538G>T
ENST00000684404.1:n.5460G>T
ENST00000684442.1:n.4656G>T
ENST00000684555.1:c.*2429G>T	ENSP00000507705.1:n.*2429G>T
ENST00000684571.1:c.4058G>T	ENSP00000506935.1:p.Gly1353Val
ENST00000684593.1:c.*3922G>T	ENSP00000507005.1:n.*3922G>T
ENST00000684711.1:c.*2613G>T	ENSP00000506841.1:n.*2613G>T
ENST00000302539.9:c.4220G>T	ENSP00000303960.4:p.Gly1407Val
ENST00000389817.8:c.4217G>T MANE Select	ENSP00000374467.4:p.Gly1406Val
ENST00000642271.1:c.4214G>T	ENSP00000493749.1:p.Gly1405Val
ENST00000642579.1:c.2271G>T
ENST00000642611.1:n.5435G>T
ENST00000642902.1:c.3999G>T
ENST00000643260.1:c.4217G>T	ENSP00000494450.1:p.Gly1406Val
ENST00000643562.1:c.*2339G>T	ENSP00000496124.1:n.*2339G>T
ENST00000643925.1:c.2857G>T
ENST00000644057.1:n.294G>T
ENST00000644484.1:c.*3603G>T	ENSP00000493558.1:n.*3603G>T
ENST00000644675.1:c.*2389G>T	ENSP00000494567.1:n.*2389G>T
ENST00000644757.1:c.*3202+564G>T	ENSP00000495085.1:n.*3202+564G>T
ENST00000644772.1:c.4283G>T	ENSP00000494321.1:p.Gly1428Val
ENST00000645004.1:n.1910G>T
ENST00000645076.1:c.3416G>T
ENST00000645417.1:c.1405G>T
ENST00000645744.1:c.*3964-62G>T	ENSP00000494564.1:n.*3964-62G>T
ENST00000645760.1:c.4638G>T
ENST00000645884.1:c.*1500G>T	ENSP00000495516.1:n.*1500G>T
ENST00000646003.1:c.*2301-62G>T	ENSP00000495259.1:n.*2301-62G>T
ENST00000646207.1:c.*3054G>T	ENSP00000495025.1:n.*3054G>T
ENST00000646276.1:c.*3621G>T	ENSP00000496070.1:n.*3621G>T
ENST00000646592.1:c.3523G>T
ENST00000646902.1:c.4184G>T	ENSP00000494101.1:p.Gly1395Val
ENST00000646993.1:c.*2759G>T	ENSP00000493720.1:n.*2759G>T
ENST00000647013.1:c.4223G>T	ENSP00000496741.1:n.4223G>T
ENST00000647015.1:c.3968G>T	ENSP00000495389.1:p.Gly1323Val
ENST00000647086.1:c.*3803G>T	ENSP00000493677.1:n.*3803G>T
ENST00000647158.1:c.*2504G>T	ENSP00000495744.1:n.*2504G>T
ENST00000302539.8:c.4220G>T	ENSP00000303960.4:p.Gly1407Val
ENST00000389817.7:c.4217G>T	ENSP00000374467.3:p.Gly1406Val
ENST00000525022.1:n.216G>T
ENST00000526037.5:n.81G>T
ENST00000526168.5:c.67-62G>T
ENST00000531642.5:c.53G>T
NM_000352.4:c.4217G>T	NP_000343.2:p.Gly1406Val
NM_001287174.1:c.4220G>T	NP_001274103.1:p.Gly1407Val
XM_011520331.1:c.4217G>T	XP_011518633.1:p.Gly1406Val
XM_011520332.1:c.4220G>T	XP_011518634.1:p.Gly1407Val
XM_011520333.1:c.2717G>T	XP_011518635.1:p.Gly906Val
XR_930890.1:n.4283G>T
NM_001351295.1:c.4283G>T	NP_001338224.1:p.Gly1428Val
NM_001351296.1:c.4217G>T	NP_001338225.1:p.Gly1406Val
NM_001351297.1:c.4214G>T	NP_001338226.1:p.Gly1405Val
NR_147094.1:n.4512G>T
XM_017018197.2:c.4286G>T	XP_016873686.1:p.Gly1429Val
XM_017018199.1:c.4283G>T	XP_016873688.1:p.Gly1428Val
XM_017018201.2:c.4286G>T	XP_016873690.1:p.Gly1429Val
XM_017018202.1:c.2783G>T	XP_016873691.1:p.Gly928Val
XM_017018204.1:c.2174G>T	XP_016873693.1:p.Gly725Val
XM_024448668.1:c.2585G>T	XP_024304436.1:p.Gly862Val
XR_001747945.2:n.4358G>T
XR_001747946.2:n.4289G>T
XR_002957189.1:n.6072G>T
NM_000352.6:c.4217G>T MANE Select	NP_000343.2:p.Gly1406Val
NM_001287174.2:c.4220G>T	NP_001274103.1:p.Gly1407Val
NM_001351295.2:c.4283G>T	NP_001338224.1:p.Gly1428Val
NM_001351296.2:c.4217G>T	NP_001338225.1:p.Gly1406Val
NM_001351297.2:c.4214G>T	NP_001338226.1:p.Gly1405Val
NR_147094.2:n.4512G>T
NM_001287174.3:c.4220G>T	NP_001274103.1:p.Gly1407Val