Canonical Allele Identifier: CA379788328

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395909-C-A
• MyVariant Identifiers: chr11:g.17417456C>A (hg19) ; chr11:g.17395909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395909C>A , CM000673.2:g.17395909C>A	GRCh38
NC_000011.9:g.17417456C>A , CM000673.1:g.17417456C>A	GRCh37
NC_000011.8:g.17374032C>A	NCBI36
NG_008867.1:g.85994G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3742G>T
ENST00000528374.2:c.732G>T
ENST00000529967.6:n.2480G>T
ENST00000532220.2:n.3374G>T
ENST00000642611.2:n.5341G>T
ENST00000644057.2:n.584G>T
ENST00000645004.2:n.1640G>T
ENST00000682051.1:n.4303G>T
ENST00000682110.1:n.4356G>T
ENST00000682140.1:c.4007G>T	ENSP00000507829.1:p.Arg1336Leu
ENST00000682185.1:n.5446G>T
ENST00000682204.1:c.*2279G>T	ENSP00000507094.1:n.*2279G>T
ENST00000682215.1:n.4723G>T
ENST00000682288.1:c.*2572G>T	ENSP00000507506.1:n.*2572G>T
ENST00000682442.1:n.4576G>T
ENST00000682528.1:n.4433G>T
ENST00000682673.1:n.4300G>T
ENST00000682805.1:n.4761G>T
ENST00000682965.1:c.*563G>T	ENSP00000508229.1:n.*563G>T
ENST00000683093.1:n.5440G>T
ENST00000683136.1:c.4024G>T	ENSP00000507768.1:p.Gly1342Cys
ENST00000683153.1:n.4398G>T
ENST00000683365.1:n.4458G>T
ENST00000683377.1:n.4356G>T
ENST00000683456.1:c.*1278G>T	ENSP00000508318.1:n.*1278G>T
ENST00000683522.1:n.4356G>T
ENST00000683562.1:c.*2310G>T	ENSP00000508265.1:n.*2310G>T
ENST00000683693.1:n.5788G>T
ENST00000683725.1:c.4141G>T	ENSP00000507496.1:p.Gly1381Cys
ENST00000684010.1:n.4351G>T
ENST00000684157.1:n.5341G>T
ENST00000684253.1:n.4259G>T
ENST00000684288.1:c.*2313G>T	ENSP00000507143.1:n.*2313G>T
ENST00000684313.1:n.3788G>T
ENST00000684332.1:n.4429G>T
ENST00000684371.1:n.4462G>T
ENST00000684404.1:n.5384G>T
ENST00000684442.1:n.4580G>T
ENST00000684555.1:c.*2353G>T	ENSP00000507705.1:n.*2353G>T
ENST00000684571.1:c.3982G>T	ENSP00000506935.1:p.Gly1328Cys
ENST00000684593.1:c.*3846G>T	ENSP00000507005.1:n.*3846G>T
ENST00000684711.1:c.*2537G>T	ENSP00000506841.1:n.*2537G>T
ENST00000302539.9:c.4144G>T	ENSP00000303960.4:p.Gly1382Cys
ENST00000389817.8:c.4141G>T MANE Select	ENSP00000374467.4:p.Gly1381Cys
ENST00000642271.1:c.4138G>T	ENSP00000493749.1:p.Gly1380Cys
ENST00000642579.1:c.2195G>T
ENST00000642611.1:n.5226G>T
ENST00000642902.1:c.3923G>T
ENST00000643260.1:c.4141G>T	ENSP00000494450.1:p.Gly1381Cys
ENST00000643562.1:c.*2263G>T	ENSP00000496124.1:n.*2263G>T
ENST00000643925.1:c.2781G>T
ENST00000644057.1:n.218G>T
ENST00000644484.1:c.*3527G>T	ENSP00000493558.1:n.*3527G>T
ENST00000644675.1:c.*2313G>T	ENSP00000494567.1:n.*2313G>T
ENST00000644757.1:c.*3202+355G>T	ENSP00000495085.1:n.*3202+355G>T
ENST00000644772.1:c.4207G>T	ENSP00000494321.1:p.Gly1403Cys
ENST00000645004.1:n.1834G>T
ENST00000645076.1:c.3340G>T
ENST00000645417.1:c.1329G>T
ENST00000645744.1:c.*3906G>T	ENSP00000494564.1:n.*3906G>T
ENST00000645760.1:c.4562G>T
ENST00000645884.1:c.*1424G>T	ENSP00000495516.1:n.*1424G>T
ENST00000646003.1:c.*2243G>T	ENSP00000495259.1:n.*2243G>T
ENST00000646207.1:c.*2978G>T	ENSP00000495025.1:n.*2978G>T
ENST00000646276.1:c.*3545G>T	ENSP00000496070.1:n.*3545G>T
ENST00000646592.1:c.3447G>T
ENST00000646902.1:c.4108G>T	ENSP00000494101.1:p.Gly1370Cys
ENST00000646993.1:c.*2683G>T	ENSP00000493720.1:n.*2683G>T
ENST00000647013.1:c.4147G>T	ENSP00000496741.1:n.4147G>T
ENST00000647015.1:c.3892G>T	ENSP00000495389.1:p.Gly1298Cys
ENST00000647086.1:c.*3727G>T	ENSP00000493677.1:n.*3727G>T
ENST00000647158.1:c.*2428G>T	ENSP00000495744.1:n.*2428G>T
ENST00000302539.8:c.4144G>T	ENSP00000303960.4:p.Gly1382Cys
ENST00000389817.7:c.4141G>T	ENSP00000374467.3:p.Gly1381Cys
ENST00000525022.1:n.7G>T
ENST00000526168.5:c.9G>T
NM_000352.4:c.4141G>T	NP_000343.2:p.Gly1381Cys
NM_001287174.1:c.4144G>T	NP_001274103.1:p.Gly1382Cys
XM_011520331.1:c.4141G>T	XP_011518633.1:p.Gly1381Cys
XM_011520332.1:c.4144G>T	XP_011518634.1:p.Gly1382Cys
XM_011520333.1:c.2641G>T	XP_011518635.1:p.Gly881Cys
XR_930890.1:n.4207G>T
NM_001351295.1:c.4207G>T	NP_001338224.1:p.Gly1403Cys
NM_001351296.1:c.4141G>T	NP_001338225.1:p.Gly1381Cys
NM_001351297.1:c.4138G>T	NP_001338226.1:p.Gly1380Cys
NR_147094.1:n.4436G>T
XM_017018197.2:c.4210G>T	XP_016873686.1:p.Gly1404Cys
XM_017018199.1:c.4207G>T	XP_016873688.1:p.Gly1403Cys
XM_017018201.2:c.4210G>T	XP_016873690.1:p.Gly1404Cys
XM_017018202.1:c.2707G>T	XP_016873691.1:p.Gly903Cys
XM_017018204.1:c.2098G>T	XP_016873693.1:p.Gly700Cys
XM_024448668.1:c.2509G>T	XP_024304436.1:p.Gly837Cys
XR_001747945.2:n.4282G>T
XR_001747946.2:n.4213G>T
XR_002957189.1:n.5863G>T
NM_000352.6:c.4141G>T MANE Select	NP_000343.2:p.Gly1381Cys
NM_001287174.2:c.4144G>T	NP_001274103.1:p.Gly1382Cys
NM_001351295.2:c.4207G>T	NP_001338224.1:p.Gly1403Cys
NM_001351296.2:c.4141G>T	NP_001338225.1:p.Gly1381Cys
NM_001351297.2:c.4138G>T	NP_001338226.1:p.Gly1380Cys
NR_147094.2:n.4436G>T
NM_001287174.3:c.4144G>T	NP_001274103.1:p.Gly1382Cys