Canonical Allele Identifier: CA379790710

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418533C>A (hg19) ; chr11:g.17396986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396986C>A , CM000673.2:g.17396986C>A	GRCh38
NC_000011.9:g.17418533C>A , CM000673.1:g.17418533C>A	GRCh37
NC_000011.8:g.17375109C>A	NCBI36
NG_008867.1:g.84917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3650G>T
ENST00000528374.2:c.640G>T
ENST00000529967.6:n.2388G>T
ENST00000532220.2:n.2297G>T
ENST00000642611.2:n.4264G>T
ENST00000644057.2:n.492G>T
ENST00000645004.2:n.1548G>T
ENST00000682051.1:n.4211G>T
ENST00000682110.1:n.4264G>T
ENST00000682140.1:c.3985+207G>T	ENSP00000507829.1:n.3985+207G>T
ENST00000682185.1:n.5354G>T
ENST00000682204.1:c.*2187G>T	ENSP00000507094.1:n.*2187G>T
ENST00000682215.1:n.4631G>T
ENST00000682288.1:c.*2480G>T	ENSP00000507506.1:n.*2480G>T
ENST00000682442.1:n.4484G>T
ENST00000682528.1:n.4341G>T
ENST00000682673.1:n.4208G>T
ENST00000682805.1:n.4631G>T
ENST00000682965.1:c.*471G>T	ENSP00000508229.1:n.*471G>T
ENST00000683093.1:n.4363G>T
ENST00000683136.1:c.3932G>T	ENSP00000507768.1:p.Ser1311Ile
ENST00000683153.1:n.4306G>T
ENST00000683365.1:n.4366G>T
ENST00000683377.1:n.4264G>T
ENST00000683456.1:c.*1186G>T	ENSP00000508318.1:n.*1186G>T
ENST00000683522.1:n.4264G>T
ENST00000683562.1:c.*2218G>T	ENSP00000508265.1:n.*2218G>T
ENST00000683693.1:n.4711G>T
ENST00000683725.1:c.4049G>T	ENSP00000507496.1:p.Ser1350Ile
ENST00000684010.1:n.4259G>T
ENST00000684157.1:n.4264G>T
ENST00000684253.1:n.4167G>T
ENST00000684288.1:c.*2221G>T	ENSP00000507143.1:n.*2221G>T
ENST00000684313.1:n.3696G>T
ENST00000684332.1:n.4337G>T
ENST00000684371.1:n.4370G>T
ENST00000684404.1:n.4307G>T
ENST00000684442.1:n.4488G>T
ENST00000684555.1:c.*2261G>T	ENSP00000507705.1:n.*2261G>T
ENST00000684571.1:c.3890G>T	ENSP00000506935.1:p.Ser1297Ile
ENST00000684593.1:c.*3754G>T	ENSP00000507005.1:n.*3754G>T
ENST00000684711.1:c.*2445G>T	ENSP00000506841.1:n.*2445G>T
ENST00000302539.9:c.4052G>T	ENSP00000303960.4:p.Ser1351Ile
ENST00000389817.8:c.4049G>T MANE Select	ENSP00000374467.4:p.Ser1350Ile
ENST00000642271.1:c.4046G>T	ENSP00000493749.1:p.Ser1349Ile
ENST00000642579.1:c.2103G>T
ENST00000642611.1:n.4149G>T
ENST00000642902.1:c.3831G>T
ENST00000643260.1:c.4049G>T	ENSP00000494450.1:p.Ser1350Ile
ENST00000643562.1:c.*2171G>T	ENSP00000496124.1:n.*2171G>T
ENST00000643925.1:c.2689G>T
ENST00000644057.1:n.126G>T
ENST00000644484.1:c.*2450G>T	ENSP00000493558.1:n.*2450G>T
ENST00000644675.1:c.*2221G>T	ENSP00000494567.1:n.*2221G>T
ENST00000644757.1:c.*2480G>T	ENSP00000495085.1:n.*2480G>T
ENST00000644772.1:c.4115G>T	ENSP00000494321.1:p.Ser1372Ile
ENST00000645004.1:n.1704G>T
ENST00000645076.1:c.3248G>T
ENST00000645417.1:c.1237G>T
ENST00000645744.1:c.*2829G>T	ENSP00000494564.1:n.*2829G>T
ENST00000645760.1:c.4470G>T
ENST00000645884.1:c.*1332G>T	ENSP00000495516.1:n.*1332G>T
ENST00000646003.1:c.*2151G>T	ENSP00000495259.1:n.*2151G>T
ENST00000646207.1:c.*2886G>T	ENSP00000495025.1:n.*2886G>T
ENST00000646276.1:c.*2468G>T	ENSP00000496070.1:n.*2468G>T
ENST00000646592.1:c.3355G>T
ENST00000646902.1:c.4016G>T	ENSP00000494101.1:p.Ser1339Ile
ENST00000646993.1:c.*2591G>T	ENSP00000493720.1:n.*2591G>T
ENST00000647013.1:c.4055G>T	ENSP00000496741.1:n.4055G>T
ENST00000647015.1:c.3800G>T	ENSP00000495389.1:p.Ser1267Ile
ENST00000647086.1:c.*3635G>T	ENSP00000493677.1:n.*3635G>T
ENST00000647158.1:c.*2336G>T	ENSP00000495744.1:n.*2336G>T
ENST00000302539.8:c.4052G>T	ENSP00000303960.4:p.Ser1351Ile
ENST00000389817.7:c.4049G>T	ENSP00000374467.3:p.Ser1350Ile
ENST00000527905.5:c.*1071G>T	ENSP00000431653.1:n.*1071G>T
ENST00000528374.1:c.531G>T
ENST00000531137.1:n.614G>T
ENST00000531891.1:c.387G>T
ENST00000532220.1:n.523G>T
NM_000352.4:c.4049G>T	NP_000343.2:p.Ser1350Ile
NM_001287174.1:c.4052G>T	NP_001274103.1:p.Ser1351Ile
XM_011520331.1:c.4049G>T	XP_011518633.1:p.Ser1350Ile
XM_011520332.1:c.4052G>T	XP_011518634.1:p.Ser1351Ile
XM_011520333.1:c.2549G>T	XP_011518635.1:p.Ser850Ile
XR_930890.1:n.4115G>T
NM_001351295.1:c.4115G>T	NP_001338224.1:p.Ser1372Ile
NM_001351296.1:c.4049G>T	NP_001338225.1:p.Ser1350Ile
NM_001351297.1:c.4046G>T	NP_001338226.1:p.Ser1349Ile
NR_147094.1:n.4344G>T
XM_017018197.2:c.4118G>T	XP_016873686.1:p.Ser1373Ile
XM_017018199.1:c.4115G>T	XP_016873688.1:p.Ser1372Ile
XM_017018201.2:c.4118G>T	XP_016873690.1:p.Ser1373Ile
XM_017018202.1:c.2615G>T	XP_016873691.1:p.Ser872Ile
XM_017018204.1:c.2006G>T	XP_016873693.1:p.Ser669Ile
XM_024448668.1:c.2417G>T	XP_024304436.1:p.Ser806Ile
XR_001747945.2:n.4190G>T
XR_001747946.2:n.4121G>T
XR_002957189.1:n.4786G>T
NM_000352.6:c.4049G>T MANE Select	NP_000343.2:p.Ser1350Ile
NM_001287174.2:c.4052G>T	NP_001274103.1:p.Ser1351Ile
NM_001351295.2:c.4115G>T	NP_001338224.1:p.Ser1372Ile
NM_001351296.2:c.4049G>T	NP_001338225.1:p.Ser1350Ile
NM_001351297.2:c.4046G>T	NP_001338226.1:p.Ser1349Ile
NR_147094.2:n.4344G>T
NM_001287174.3:c.4052G>T	NP_001274103.1:p.Ser1351Ile