Canonical Allele Identifier: CA379788276

Gene: ABCC8

Linked Data

• dbSNP Id: rs886039877
• MyVariant Identifiers: chr11:g.17417451A>T (hg19) ; chr11:g.17395904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395904A>T , CM000673.2:g.17395904A>T	GRCh38
NC_000011.9:g.17417451A>T , CM000673.1:g.17417451A>T	GRCh37
NC_000011.8:g.17374027A>T	NCBI36
NG_008867.1:g.85999T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3747T>A
ENST00000528374.2:c.737T>A
ENST00000529967.6:n.2485T>A
ENST00000532220.2:n.3379T>A
ENST00000642611.2:n.5346T>A
ENST00000644057.2:n.589T>A
ENST00000645004.2:n.1645T>A
ENST00000682051.1:n.4308T>A
ENST00000682110.1:n.4361T>A
ENST00000682140.1:c.4012T>A	ENSP00000507829.1:p.Trp1338Arg
ENST00000682185.1:n.5451T>A
ENST00000682204.1:c.*2284T>A	ENSP00000507094.1:n.*2284T>A
ENST00000682215.1:n.4728T>A
ENST00000682288.1:c.*2577T>A	ENSP00000507506.1:n.*2577T>A
ENST00000682442.1:n.4581T>A
ENST00000682528.1:n.4438T>A
ENST00000682673.1:n.4305T>A
ENST00000682805.1:n.4766T>A
ENST00000682965.1:c.*568T>A	ENSP00000508229.1:n.*568T>A
ENST00000683093.1:n.5445T>A
ENST00000683136.1:c.4029T>A	ENSP00000507768.1:p.Ser1343Arg
ENST00000683153.1:n.4403T>A
ENST00000683365.1:n.4463T>A
ENST00000683377.1:n.4361T>A
ENST00000683456.1:c.*1283T>A	ENSP00000508318.1:n.*1283T>A
ENST00000683522.1:n.4361T>A
ENST00000683562.1:c.*2315T>A	ENSP00000508265.1:n.*2315T>A
ENST00000683693.1:n.5793T>A
ENST00000683725.1:c.4146T>A	ENSP00000507496.1:p.Ser1382Arg
ENST00000684010.1:n.4356T>A
ENST00000684157.1:n.5346T>A
ENST00000684253.1:n.4264T>A
ENST00000684288.1:c.*2318T>A	ENSP00000507143.1:n.*2318T>A
ENST00000684313.1:n.3793T>A
ENST00000684332.1:n.4434T>A
ENST00000684371.1:n.4467T>A
ENST00000684404.1:n.5389T>A
ENST00000684442.1:n.4585T>A
ENST00000684555.1:c.*2358T>A	ENSP00000507705.1:n.*2358T>A
ENST00000684571.1:c.3987T>A	ENSP00000506935.1:p.Ser1329Arg
ENST00000684593.1:c.*3851T>A	ENSP00000507005.1:n.*3851T>A
ENST00000684711.1:c.*2542T>A	ENSP00000506841.1:n.*2542T>A
ENST00000302539.9:c.4149T>A	ENSP00000303960.4:p.Ser1383Arg
ENST00000389817.8:c.4146T>A MANE Select	ENSP00000374467.4:p.Ser1382Arg
ENST00000642271.1:c.4143T>A	ENSP00000493749.1:p.Ser1381Arg
ENST00000642579.1:c.2200T>A
ENST00000642611.1:n.5231T>A
ENST00000642902.1:c.3928T>A
ENST00000643260.1:c.4146T>A	ENSP00000494450.1:p.Ser1382Arg
ENST00000643562.1:c.*2268T>A	ENSP00000496124.1:n.*2268T>A
ENST00000643925.1:c.2786T>A
ENST00000644057.1:n.223T>A
ENST00000644484.1:c.*3532T>A	ENSP00000493558.1:n.*3532T>A
ENST00000644675.1:c.*2318T>A	ENSP00000494567.1:n.*2318T>A
ENST00000644757.1:c.*3202+360T>A	ENSP00000495085.1:n.*3202+360T>A
ENST00000644772.1:c.4212T>A	ENSP00000494321.1:p.Ser1404Arg
ENST00000645004.1:n.1839T>A
ENST00000645076.1:c.3345T>A
ENST00000645417.1:c.1334T>A
ENST00000645744.1:c.*3911T>A	ENSP00000494564.1:n.*3911T>A
ENST00000645760.1:c.4567T>A
ENST00000645884.1:c.*1429T>A	ENSP00000495516.1:n.*1429T>A
ENST00000646003.1:c.*2248T>A	ENSP00000495259.1:n.*2248T>A
ENST00000646207.1:c.*2983T>A	ENSP00000495025.1:n.*2983T>A
ENST00000646276.1:c.*3550T>A	ENSP00000496070.1:n.*3550T>A
ENST00000646592.1:c.3452T>A
ENST00000646902.1:c.4113T>A	ENSP00000494101.1:p.Ser1371Arg
ENST00000646993.1:c.*2688T>A	ENSP00000493720.1:n.*2688T>A
ENST00000647013.1:c.4152T>A	ENSP00000496741.1:n.4152T>A
ENST00000647015.1:c.3897T>A	ENSP00000495389.1:p.Ser1299Arg
ENST00000647086.1:c.*3732T>A	ENSP00000493677.1:n.*3732T>A
ENST00000647158.1:c.*2433T>A	ENSP00000495744.1:n.*2433T>A
ENST00000302539.8:c.4149T>A	ENSP00000303960.4:p.Ser1383Arg
ENST00000389817.7:c.4146T>A	ENSP00000374467.3:p.Ser1382Arg
ENST00000525022.1:n.12T>A
ENST00000526168.5:c.14T>A
NM_000352.4:c.4146T>A	NP_000343.2:p.Ser1382Arg
NM_001287174.1:c.4149T>A	NP_001274103.1:p.Ser1383Arg
XM_011520331.1:c.4146T>A	XP_011518633.1:p.Ser1382Arg
XM_011520332.1:c.4149T>A	XP_011518634.1:p.Ser1383Arg
XM_011520333.1:c.2646T>A	XP_011518635.1:p.Ser882Arg
XR_930890.1:n.4212T>A
NM_001351295.1:c.4212T>A	NP_001338224.1:p.Ser1404Arg
NM_001351296.1:c.4146T>A	NP_001338225.1:p.Ser1382Arg
NM_001351297.1:c.4143T>A	NP_001338226.1:p.Ser1381Arg
NR_147094.1:n.4441T>A
XM_017018197.2:c.4215T>A	XP_016873686.1:p.Ser1405Arg
XM_017018199.1:c.4212T>A	XP_016873688.1:p.Ser1404Arg
XM_017018201.2:c.4215T>A	XP_016873690.1:p.Ser1405Arg
XM_017018202.1:c.2712T>A	XP_016873691.1:p.Ser904Arg
XM_017018204.1:c.2103T>A	XP_016873693.1:p.Ser701Arg
XM_024448668.1:c.2514T>A	XP_024304436.1:p.Ser838Arg
XR_001747945.2:n.4287T>A
XR_001747946.2:n.4218T>A
XR_002957189.1:n.5868T>A
NM_000352.6:c.4146T>A MANE Select	NP_000343.2:p.Ser1382Arg
NM_001287174.2:c.4149T>A	NP_001274103.1:p.Ser1383Arg
NM_001351295.2:c.4212T>A	NP_001338224.1:p.Ser1404Arg
NM_001351296.2:c.4146T>A	NP_001338225.1:p.Ser1382Arg
NM_001351297.2:c.4143T>A	NP_001338226.1:p.Ser1381Arg
NR_147094.2:n.4441T>A
NM_001287174.3:c.4149T>A	NP_001274103.1:p.Ser1383Arg