Canonical Allele Identifier: CA4239524
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs746352566
gnomAD v2: 7-44187329-C-T
gnomAD v4: 7-44147730-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147730C>T , CM000669.2:g.44147730C>T GRCh38
NC_000007.13:g.44187329C>T , CM000669.1:g.44187329C>T GRCh37
NC_000007.12:g.44153854C>T NCBI36
NG_008847.1:g.46694G>A
NG_008847.2:g.55441G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*781G>A ENSP00000379142.4:n.*781G>A
ENST00000616242.5:c.783G>A ENSP00000482149.2:p.Gly261=
ENST00000345378.7:c.786G>A ENSP00000223366.2:p.Gly262=
ENST00000403799.8:c.783G>A MANE Select ENSP00000384247.3:p.Gly261=
ENST00000671824.1:c.783G>A ENSP00000500264.1:p.Gly261=
ENST00000673284.1:c.783G>A ENSP00000499852.1:p.Gly261=
ENST00000345378.6:c.786G>A ENSP00000223366.2:p.Gly262=
ENST00000395796.7:c.780G>A ENSP00000379142.3:p.Gly260=
ENST00000403799.7:c.783G>A ENSP00000384247.3:p.Gly261=
ENST00000437084.1:c.732G>A ENSP00000402840.1:p.Gly244=
ENST00000616242.4:c.780G>A ENSP00000482149.1:p.Gly260=
NM_000162.3:c.783G>A NP_000153.1:p.Gly261=
NM_033507.1:c.786G>A NP_277042.1:p.Gly262=
NM_033508.1:c.780G>A NP_277043.1:p.Gly260=
XR_927223.1:n.64C>T
NM_000162.4:c.783G>A NP_000153.1:p.Gly261=
NM_001354800.1:c.783G>A NP_001341729.1:p.Gly261=
NM_033507.2:c.786G>A NP_277042.1:p.Gly262=
NM_033508.2:c.780G>A NP_277043.1:p.Gly260=
XR_927223.2:n.64C>T
NM_000162.5:c.783G>A MANE Select NP_000153.1:p.Gly261=
NM_033507.3:c.786G>A NP_277042.1:p.Gly262=
NM_033508.3:c.780G>A NP_277043.1:p.Gly260=