Canonical Allele Identifier: CA379790165

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396919C>A , CM000673.2:g.17396919C>A	GRCh38
NC_000011.9:g.17418466C>A , CM000673.1:g.17418466C>A	GRCh37
NC_000011.8:g.17375042C>A	NCBI36
NG_008867.1:g.84984G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4116G>T MANE Select	NP_000343.2:p.Gln1372His
ENST00000389817.8:c.4116G>T MANE Select	ENSP00000374467.4:p.Gln1372His
NM_000352.4:c.4116G>T	NP_000343.2:p.Gln1372His
NM_001287174.1:c.4119G>T	NP_001274103.1:p.Gln1373His
NM_001287174.2:c.4119G>T	NP_001274103.1:p.Gln1373His
NM_001287174.3:c.4119G>T	NP_001274103.1:p.Gln1373His
NM_001351295.1:c.4182G>T	NP_001338224.1:p.Gln1394His
NM_001351295.2:c.4182G>T	NP_001338224.1:p.Gln1394His
NM_001351296.1:c.4116G>T	NP_001338225.1:p.Gln1372His
NM_001351296.2:c.4116G>T	NP_001338225.1:p.Gln1372His
NM_001351297.1:c.4113G>T	NP_001338226.1:p.Gln1371His
NM_001351297.2:c.4113G>T	NP_001338226.1:p.Gln1371His
NR_147094.1:n.4411G>T
NR_147094.2:n.4411G>T
ENST00000302539.8:c.4119G>T	ENSP00000303960.4:p.Gln1373His
ENST00000302539.9:c.4119G>T	ENSP00000303960.4:p.Gln1373His
ENST00000389817.7:c.4116G>T	ENSP00000374467.3:p.Gln1372His
ENST00000524561.2:n.3717G>T
ENST00000527905.5:c.*1138G>T	ENSP00000431653.1:n.*1138G>T
ENST00000528374.1:c.598G>T
ENST00000528374.2:c.707G>T
ENST00000529967.6:n.2455G>T
ENST00000532220.1:n.590G>T
ENST00000532220.2:n.2364G>T
ENST00000642271.1:c.4113G>T	ENSP00000493749.1:p.Gln1371His
ENST00000642579.1:c.2170G>T
ENST00000642611.1:n.4216G>T
ENST00000642611.2:n.4331G>T
ENST00000642902.1:c.3898G>T
ENST00000643260.1:c.4116G>T	ENSP00000494450.1:p.Gln1372His
ENST00000643562.1:c.*2238G>T	ENSP00000496124.1:n.*2238G>T
ENST00000643925.1:c.2756G>T
ENST00000644057.1:n.193G>T
ENST00000644057.2:n.559G>T
ENST00000644484.1:c.*2517G>T	ENSP00000493558.1:n.*2517G>T
ENST00000644675.1:c.*2288G>T	ENSP00000494567.1:n.*2288G>T
ENST00000644757.1:c.*2547G>T	ENSP00000495085.1:n.*2547G>T
ENST00000644772.1:c.4182G>T	ENSP00000494321.1:p.Gln1394His
ENST00000645004.1:n.1771G>T
ENST00000645004.2:n.1615G>T
ENST00000645076.1:c.3315G>T
ENST00000645417.1:c.1304G>T
ENST00000645744.1:c.*2896G>T	ENSP00000494564.1:n.*2896G>T
ENST00000645760.1:c.4537G>T
ENST00000645884.1:c.*1399G>T	ENSP00000495516.1:n.*1399G>T
ENST00000646003.1:c.*2218G>T	ENSP00000495259.1:n.*2218G>T
ENST00000646207.1:c.*2953G>T	ENSP00000495025.1:n.*2953G>T
ENST00000646276.1:c.*2535G>T	ENSP00000496070.1:n.*2535G>T
ENST00000646592.1:c.3422G>T
ENST00000646902.1:c.4083G>T	ENSP00000494101.1:p.Gln1361His
ENST00000646993.1:c.*2658G>T	ENSP00000493720.1:n.*2658G>T
ENST00000647013.1:c.4122G>T	ENSP00000496741.1:n.4122G>T
ENST00000647015.1:c.3867G>T	ENSP00000495389.1:p.Gln1289His
ENST00000647086.1:c.*3702G>T	ENSP00000493677.1:n.*3702G>T
ENST00000647158.1:c.*2403G>T	ENSP00000495744.1:n.*2403G>T
ENST00000682051.1:n.4278G>T
ENST00000682110.1:n.4331G>T
ENST00000682140.1:c.3985+274G>T	ENSP00000507829.1:n.3985+274G>T
ENST00000682185.1:n.5421G>T
ENST00000682204.1:c.*2254G>T	ENSP00000507094.1:n.*2254G>T
ENST00000682215.1:n.4698G>T
ENST00000682288.1:c.*2547G>T	ENSP00000507506.1:n.*2547G>T
ENST00000682442.1:n.4551G>T
ENST00000682528.1:n.4408G>T
ENST00000682673.1:n.4275G>T
ENST00000682805.1:n.4698G>T
ENST00000682965.1:c.*538G>T	ENSP00000508229.1:n.*538G>T
ENST00000683093.1:n.4430G>T
ENST00000683136.1:c.3999G>T	ENSP00000507768.1:p.Gln1333His
ENST00000683153.1:n.4373G>T
ENST00000683365.1:n.4433G>T
ENST00000683377.1:n.4331G>T
ENST00000683456.1:c.*1253G>T	ENSP00000508318.1:n.*1253G>T
ENST00000683522.1:n.4331G>T
ENST00000683562.1:c.*2285G>T	ENSP00000508265.1:n.*2285G>T
ENST00000683693.1:n.4778G>T
ENST00000683725.1:c.4116G>T	ENSP00000507496.1:p.Gln1372His
ENST00000684010.1:n.4326G>T
ENST00000684157.1:n.4331G>T
ENST00000684253.1:n.4234G>T
ENST00000684288.1:c.*2288G>T	ENSP00000507143.1:n.*2288G>T
ENST00000684313.1:n.3763G>T
ENST00000684332.1:n.4404G>T
ENST00000684371.1:n.4437G>T
ENST00000684404.1:n.4374G>T
ENST00000684442.1:n.4555G>T
ENST00000684555.1:c.*2328G>T	ENSP00000507705.1:n.*2328G>T
ENST00000684571.1:c.3957G>T	ENSP00000506935.1:p.Gln1319His
ENST00000684593.1:c.*3821G>T	ENSP00000507005.1:n.*3821G>T
ENST00000684711.1:c.*2512G>T	ENSP00000506841.1:n.*2512G>T
XM_011520331.1:c.4116G>T	XP_011518633.1:p.Gln1372His
XM_011520332.1:c.4119G>T	XP_011518634.1:p.Gln1373His
XM_011520333.1:c.2616G>T	XP_011518635.1:p.Gln872His
XM_017018197.2:c.4185G>T	XP_016873686.1:p.Gln1395His
XM_017018199.1:c.4182G>T	XP_016873688.1:p.Gln1394His
XM_017018201.2:c.4185G>T	XP_016873690.1:p.Gln1395His
XM_017018202.1:c.2682G>T	XP_016873691.1:p.Gln894His
XM_017018204.1:c.2073G>T	XP_016873693.1:p.Gln691His
XM_024448668.1:c.2484G>T	XP_024304436.1:p.Gln828His
XR_001747945.2:n.4257G>T
XR_001747946.2:n.4188G>T
XR_002957189.1:n.4853G>T
XR_930890.1:n.4182G>T