Canonical Allele Identifier: CA157915683
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs978355558
gnomAD v2: 7-44187332-G-A
gnomAD v3: 7-44147733-G-A
gnomAD v4: 7-44147733-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147733G>A , CM000669.2:g.44147733G>A GRCh38
NC_000007.13:g.44187332G>A , CM000669.1:g.44187332G>A GRCh37
NC_000007.12:g.44153857G>A NCBI36
NG_008847.1:g.46691C>T
NG_008847.2:g.55438C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*778C>T ENSP00000379142.4:n.*778C>T
ENST00000616242.5:c.780C>T ENSP00000482149.2:p.Phe260=
ENST00000345378.7:c.783C>T ENSP00000223366.2:p.Phe261=
ENST00000403799.8:c.780C>T MANE Select ENSP00000384247.3:p.Phe260=
ENST00000671824.1:c.780C>T ENSP00000500264.1:p.Phe260=
ENST00000673284.1:c.780C>T ENSP00000499852.1:p.Phe260=
ENST00000345378.6:c.783C>T ENSP00000223366.2:p.Phe261=
ENST00000395796.7:c.777C>T ENSP00000379142.3:p.Phe259=
ENST00000403799.7:c.780C>T ENSP00000384247.3:p.Phe260=
ENST00000437084.1:c.729C>T ENSP00000402840.1:p.Phe243=
ENST00000616242.4:c.777C>T ENSP00000482149.1:p.Phe259=
NM_000162.3:c.780C>T NP_000153.1:p.Phe260=
NM_033507.1:c.783C>T NP_277042.1:p.Phe261=
NM_033508.1:c.777C>T NP_277043.1:p.Phe259=
XR_927223.1:n.67G>A
NM_000162.4:c.780C>T NP_000153.1:p.Phe260=
NM_001354800.1:c.780C>T NP_001341729.1:p.Phe260=
NM_033507.2:c.783C>T NP_277042.1:p.Phe261=
NM_033508.2:c.777C>T NP_277043.1:p.Phe259=
XR_927223.2:n.67G>A
NM_000162.5:c.780C>T MANE Select NP_000153.1:p.Phe260=
NM_033507.3:c.783C>T NP_277042.1:p.Phe261=
NM_033508.3:c.777C>T NP_277043.1:p.Phe259=