Canonical Allele Identifier: CA1955123931

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396998A= , CM000673.2:g.17396998A=	GRCh38
NC_000011.9:g.17418545A= , CM000673.1:g.17418545A=	GRCh37
NC_000011.8:g.17375121A=	NCBI36
NG_008867.1:g.84905T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3638T=
ENST00000528374.2:c.628T=
ENST00000529967.6:n.2376T=
ENST00000532220.2:n.2285T=
ENST00000642611.2:n.4252T=
ENST00000644057.2:n.480T=
ENST00000645004.2:n.1536T=
ENST00000682051.1:n.4199T=
ENST00000682110.1:n.4252T=
ENST00000682140.1:c.3985+195T=	ENSP00000507829.1:n.3985+195T=
ENST00000682185.1:n.5342T=
ENST00000682204.1:c.*2175T=	ENSP00000507094.1:n.*2175T=
ENST00000682215.1:n.4619T=
ENST00000682288.1:c.*2468T=	ENSP00000507506.1:n.*2468T=
ENST00000682442.1:n.4472T=
ENST00000682528.1:n.4329T=
ENST00000682673.1:n.4196T=
ENST00000682805.1:n.4619T=
ENST00000682965.1:c.*459T=	ENSP00000508229.1:n.*459T=
ENST00000683093.1:n.4351T=
ENST00000683136.1:c.3920T=	ENSP00000507768.1:p.Ile1307=
ENST00000683153.1:n.4294T=
ENST00000683365.1:n.4354T=
ENST00000683377.1:n.4252T=
ENST00000683456.1:c.*1174T=	ENSP00000508318.1:n.*1174T=
ENST00000683522.1:n.4252T=
ENST00000683562.1:c.*2206T=	ENSP00000508265.1:n.*2206T=
ENST00000683693.1:n.4699T=
ENST00000683725.1:c.4037T=	ENSP00000507496.1:p.Ile1346=
ENST00000684010.1:n.4247T=
ENST00000684157.1:n.4252T=
ENST00000684253.1:n.4155T=
ENST00000684288.1:c.*2209T=	ENSP00000507143.1:n.*2209T=
ENST00000684313.1:n.3684T=
ENST00000684332.1:n.4325T=
ENST00000684371.1:n.4358T=
ENST00000684404.1:n.4295T=
ENST00000684442.1:n.4476T=
ENST00000684555.1:c.*2249T=	ENSP00000507705.1:n.*2249T=
ENST00000684571.1:c.3878T=	ENSP00000506935.1:p.Ile1293=
ENST00000684593.1:c.*3742T=	ENSP00000507005.1:n.*3742T=
ENST00000684711.1:c.*2433T=	ENSP00000506841.1:n.*2433T=
ENST00000302539.9:c.4040T=	ENSP00000303960.4:p.Ile1347=
ENST00000389817.8:c.4037T= MANE Select	ENSP00000374467.4:p.Ile1346=
ENST00000642271.1:c.4034T=	ENSP00000493749.1:p.Ile1345=
ENST00000642579.1:c.2091T=
ENST00000642611.1:n.4137T=
ENST00000642902.1:c.3819T=
ENST00000643260.1:c.4037T=	ENSP00000494450.1:p.Ile1346=
ENST00000643562.1:c.*2159T=	ENSP00000496124.1:n.*2159T=
ENST00000643925.1:c.2677T=
ENST00000644057.1:n.114T=
ENST00000644484.1:c.*2438T=	ENSP00000493558.1:n.*2438T=
ENST00000644675.1:c.*2209T=	ENSP00000494567.1:n.*2209T=
ENST00000644757.1:c.*2468T=	ENSP00000495085.1:n.*2468T=
ENST00000644772.1:c.4103T=	ENSP00000494321.1:p.Ile1368=
ENST00000645004.1:n.1692T=
ENST00000645076.1:c.3236T=
ENST00000645417.1:c.1225T=
ENST00000645744.1:c.*2817T=	ENSP00000494564.1:n.*2817T=
ENST00000645760.1:c.4458T=
ENST00000645884.1:c.*1320T=	ENSP00000495516.1:n.*1320T=
ENST00000646003.1:c.*2139T=	ENSP00000495259.1:n.*2139T=
ENST00000646207.1:c.*2874T=	ENSP00000495025.1:n.*2874T=
ENST00000646276.1:c.*2456T=	ENSP00000496070.1:n.*2456T=
ENST00000646592.1:c.3343T=
ENST00000646902.1:c.4004T=	ENSP00000494101.1:p.Ile1335=
ENST00000646993.1:c.*2579T=	ENSP00000493720.1:n.*2579T=
ENST00000647013.1:c.4043T=	ENSP00000496741.1:n.4043T=
ENST00000647015.1:c.3788T=	ENSP00000495389.1:p.Ile1263=
ENST00000647086.1:c.*3623T=	ENSP00000493677.1:n.*3623T=
ENST00000647158.1:c.*2324T=	ENSP00000495744.1:n.*2324T=
ENST00000302539.8:c.4040T=	ENSP00000303960.4:p.Ile1347=
ENST00000389817.7:c.4037T=	ENSP00000374467.3:p.Ile1346=
ENST00000527905.5:c.*1059T=	ENSP00000431653.1:n.*1059T=
ENST00000528374.1:c.519T=
ENST00000531137.1:n.602T=
ENST00000531891.1:c.375T=
ENST00000532220.1:n.511T=
NM_000352.4:c.4037T=	NP_000343.2:p.Ile1346=
NM_001287174.1:c.4040T=	NP_001274103.1:p.Ile1347=
XM_011520331.1:c.4037T=	XP_011518633.1:p.Ile1346=
XM_011520332.1:c.4040T=	XP_011518634.1:p.Ile1347=
XM_011520333.1:c.2537T=	XP_011518635.1:p.Ile846=
XR_930890.1:n.4103T=
NM_001351295.1:c.4103T=	NP_001338224.1:p.Ile1368=
NM_001351296.1:c.4037T=	NP_001338225.1:p.Ile1346=
NM_001351297.1:c.4034T=	NP_001338226.1:p.Ile1345=
NR_147094.1:n.4332T=
XM_017018197.2:c.4106T=	XP_016873686.1:p.Ile1369=
XM_017018199.1:c.4103T=	XP_016873688.1:p.Ile1368=
XM_017018201.2:c.4106T=	XP_016873690.1:p.Ile1369=
XM_017018202.1:c.2603T=	XP_016873691.1:p.Ile868=
XM_017018204.1:c.1994T=	XP_016873693.1:p.Ile665=
XM_024448668.1:c.2405T=	XP_024304436.1:p.Ile802=
XR_001747945.2:n.4178T=
XR_001747946.2:n.4109T=
XR_002957189.1:n.4774T=
NM_000352.6:c.4037T= MANE Select	NP_000343.2:p.Ile1346=
NM_001287174.2:c.4040T=	NP_001274103.1:p.Ile1347=
NM_001351295.2:c.4103T=	NP_001338224.1:p.Ile1368=
NM_001351296.2:c.4037T=	NP_001338225.1:p.Ile1346=
NM_001351297.2:c.4034T=	NP_001338226.1:p.Ile1345=
NR_147094.2:n.4332T=
NM_001287174.3:c.4040T=	NP_001274103.1:p.Ile1347=