Canonical Allele Identifier: CA367400622
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 810090
ClinVar RCV Id: RCV000998793
dbSNP Id: rs1372204515
gnomAD v3: 7-44147758-C-A
gnomAD v4: 7-44147758-C-A
MyVariant Identifiers: chr7:g.44187357C>A (hg19) chr7:g.44147758C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147758C>A , CM000669.2:g.44147758C>A GRCh38
NC_000007.13:g.44187357C>A , CM000669.1:g.44187357C>A GRCh37
NC_000007.12:g.44153882C>A NCBI36
NG_008847.1:g.46666G>T
NG_008847.2:g.55413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*753G>T ENSP00000379142.4:n.*753G>T
ENST00000616242.5:c.755G>T ENSP00000482149.2:p.Cys252Phe
ENST00000345378.7:c.758G>T ENSP00000223366.2:p.Cys253Phe
ENST00000403799.8:c.755G>T MANE Select ENSP00000384247.3:p.Cys252Phe
ENST00000671824.1:c.755G>T ENSP00000500264.1:p.Cys252Phe
ENST00000673284.1:c.755G>T ENSP00000499852.1:p.Cys252Phe
ENST00000345378.6:c.758G>T ENSP00000223366.2:p.Cys253Phe
ENST00000395796.7:c.752G>T ENSP00000379142.3:p.Cys251Phe
ENST00000403799.7:c.755G>T ENSP00000384247.3:p.Cys252Phe
ENST00000437084.1:c.704G>T ENSP00000402840.1:p.Cys235Phe
ENST00000616242.4:c.752G>T ENSP00000482149.1:p.Cys251Phe
NM_000162.3:c.755G>T NP_000153.1:p.Cys252Phe
NM_033507.1:c.758G>T NP_277042.1:p.Cys253Phe
NM_033508.1:c.752G>T NP_277043.1:p.Cys251Phe
XR_927223.1:n.82+10C>A
NM_000162.4:c.755G>T NP_000153.1:p.Cys252Phe
NM_001354800.1:c.755G>T NP_001341729.1:p.Cys252Phe
NM_033507.2:c.758G>T NP_277042.1:p.Cys253Phe
NM_033508.2:c.752G>T NP_277043.1:p.Cys251Phe
XR_927223.2:n.82+10C>A
NM_000162.5:c.755G>T MANE Select NP_000153.1:p.Cys252Phe
NM_033507.3:c.758G>T NP_277042.1:p.Cys253Phe
NM_033508.3:c.752G>T NP_277043.1:p.Cys251Phe
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