Canonical Allele Identifier: CA3189325361
Community Standard Title: NM_000352.6(ABCC8):c.4113A= (p.Gly1371=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17396922T= , CM000673.2:g.17396922T= GRCh38
NC_000011.9:g.17418469T= , CM000673.1:g.17418469T= GRCh37
NC_000011.8:g.17375045T= NCBI36
NG_008867.1:g.84981A=

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.4113A= MANE Select NP_000343.2:p.Gly1371=
ENST00000389817.8:c.4113A= MANE Select ENSP00000374467.4:p.Gly1371=
NM_000352.4:c.4113A= NP_000343.2:p.Gly1371=
NM_001287174.1:c.4116A= NP_001274103.1:p.Gly1372=
NM_001287174.2:c.4116A= NP_001274103.1:p.Gly1372=
NM_001287174.3:c.4116A= NP_001274103.1:p.Gly1372=
NM_001351295.1:c.4179A= NP_001338224.1:p.Gly1393=
NM_001351295.2:c.4179A= NP_001338224.1:p.Gly1393=
NM_001351296.1:c.4113A= NP_001338225.1:p.Gly1371=
NM_001351296.2:c.4113A= NP_001338225.1:p.Gly1371=
NM_001351297.1:c.4110A= NP_001338226.1:p.Gly1370=
NM_001351297.2:c.4110A= NP_001338226.1:p.Gly1370=
NR_147094.1:n.4408A=
NR_147094.2:n.4408A=
ENST00000302539.8:c.4116A= ENSP00000303960.4:p.Gly1372=
ENST00000302539.9:c.4116A= ENSP00000303960.4:p.Gly1372=
ENST00000389817.7:c.4113A= ENSP00000374467.3:p.Gly1371=
ENST00000524561.2:n.3714A=
ENST00000527905.5:c.*1135A= ENSP00000431653.1:n.*1135A=
ENST00000528374.1:c.595A=
ENST00000528374.2:c.704A=
ENST00000529967.6:n.2452A=
ENST00000532220.1:n.587A=
ENST00000532220.2:n.2361A=
ENST00000642271.1:c.4110A= ENSP00000493749.1:p.Gly1370=
ENST00000642579.1:c.2167A=
ENST00000642611.1:n.4213A=
ENST00000642611.2:n.4328A=
ENST00000642902.1:c.3895A=
ENST00000643260.1:c.4113A= ENSP00000494450.1:p.Gly1371=
ENST00000643562.1:c.*2235A= ENSP00000496124.1:n.*2235A=
ENST00000643925.1:c.2753A=
ENST00000644057.1:n.190A=
ENST00000644057.2:n.556A=
ENST00000644484.1:c.*2514A= ENSP00000493558.1:n.*2514A=
ENST00000644675.1:c.*2285A= ENSP00000494567.1:n.*2285A=
ENST00000644757.1:c.*2544A= ENSP00000495085.1:n.*2544A=
ENST00000644772.1:c.4179A= ENSP00000494321.1:p.Gly1393=
ENST00000645004.1:n.1768A=
ENST00000645004.2:n.1612A=
ENST00000645076.1:c.3312A=
ENST00000645417.1:c.1301A=
ENST00000645744.1:c.*2893A= ENSP00000494564.1:n.*2893A=
ENST00000645760.1:c.4534A=
ENST00000645884.1:c.*1396A= ENSP00000495516.1:n.*1396A=
ENST00000646003.1:c.*2215A= ENSP00000495259.1:n.*2215A=
ENST00000646207.1:c.*2950A= ENSP00000495025.1:n.*2950A=
ENST00000646276.1:c.*2532A= ENSP00000496070.1:n.*2532A=
ENST00000646592.1:c.3419A=
ENST00000646902.1:c.4080A= ENSP00000494101.1:p.Gly1360=
ENST00000646993.1:c.*2655A= ENSP00000493720.1:n.*2655A=
ENST00000647013.1:c.4119A= ENSP00000496741.1:n.4119A=
ENST00000647015.1:c.3864A= ENSP00000495389.1:p.Gly1288=
ENST00000647086.1:c.*3699A= ENSP00000493677.1:n.*3699A=
ENST00000647158.1:c.*2400A= ENSP00000495744.1:n.*2400A=
ENST00000682051.1:n.4275A=
ENST00000682110.1:n.4328A=
ENST00000682140.1:c.3985+271A= ENSP00000507829.1:n.3985+271A=
ENST00000682185.1:n.5418A=
ENST00000682204.1:c.*2251A= ENSP00000507094.1:n.*2251A=
ENST00000682215.1:n.4695A=
ENST00000682288.1:c.*2544A= ENSP00000507506.1:n.*2544A=
ENST00000682442.1:n.4548A=
ENST00000682528.1:n.4405A=
ENST00000682673.1:n.4272A=
ENST00000682805.1:n.4695A=
ENST00000682965.1:c.*535A= ENSP00000508229.1:n.*535A=
ENST00000683093.1:n.4427A=
ENST00000683136.1:c.3996A= ENSP00000507768.1:p.Gly1332=
ENST00000683153.1:n.4370A=
ENST00000683365.1:n.4430A=
ENST00000683377.1:n.4328A=
ENST00000683456.1:c.*1250A= ENSP00000508318.1:n.*1250A=
ENST00000683522.1:n.4328A=
ENST00000683562.1:c.*2282A= ENSP00000508265.1:n.*2282A=
ENST00000683693.1:n.4775A=
ENST00000683725.1:c.4113A= ENSP00000507496.1:p.Gly1371=
ENST00000684010.1:n.4323A=
ENST00000684157.1:n.4328A=
ENST00000684253.1:n.4231A=
ENST00000684288.1:c.*2285A= ENSP00000507143.1:n.*2285A=
ENST00000684313.1:n.3760A=
ENST00000684332.1:n.4401A=
ENST00000684371.1:n.4434A=
ENST00000684404.1:n.4371A=
ENST00000684442.1:n.4552A=
ENST00000684555.1:c.*2325A= ENSP00000507705.1:n.*2325A=
ENST00000684571.1:c.3954A= ENSP00000506935.1:p.Gly1318=
ENST00000684593.1:c.*3818A= ENSP00000507005.1:n.*3818A=
ENST00000684711.1:c.*2509A= ENSP00000506841.1:n.*2509A=
XM_011520331.1:c.4113A= XP_011518633.1:p.Gly1371=
XM_011520332.1:c.4116A= XP_011518634.1:p.Gly1372=
XM_011520333.1:c.2613A= XP_011518635.1:p.Gly871=
XM_017018197.2:c.4182A= XP_016873686.1:p.Gly1394=
XM_017018199.1:c.4179A= XP_016873688.1:p.Gly1393=
XM_017018201.2:c.4182A= XP_016873690.1:p.Gly1394=
XM_017018202.1:c.2679A= XP_016873691.1:p.Gly893=
XM_017018204.1:c.2070A= XP_016873693.1:p.Gly690=
XM_024448668.1:c.2481A= XP_024304436.1:p.Gly827=
XR_001747945.2:n.4254A=
XR_001747946.2:n.4185A=
XR_002957189.1:n.4850A=
XR_930890.1:n.4179A=