Canonical Allele Identifier: CA208420
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 211076
ClinVar RCV Id: RCV000194319 RCV000880473 RCV003313054 RCV003335189 RCV003992227
dbSNP Id: rs104894005
ExAC: 7:44187277 C / G
gnomAD v2: 7-44187277-C-G
gnomAD v3: 7-44147678-C-G
gnomAD v4: 7-44147678-C-G
MyVariant Identifiers: chr7:g.44187277C>G (hg19) chr7:g.44147678C>G (hg38)
ERepo: CA208420/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147678C>G , CM000669.2:g.44147678C>G GRCh38
NC_000007.13:g.44187277C>G , CM000669.1:g.44187277C>G GRCh37
NC_000007.12:g.44153802C>G NCBI36
NG_008847.1:g.46746G>C
NG_008847.2:g.55493G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*833G>C ENSP00000379142.4:n.*833G>C
ENST00000616242.5:c.835G>C ENSP00000482149.2:p.Glu279Gln
ENST00000345378.7:c.838G>C ENSP00000223366.2:p.Glu280Gln
ENST00000403799.8:c.835G>C MANE Select ENSP00000384247.3:p.Glu279Gln
ENST00000671824.1:c.835G>C ENSP00000500264.1:p.Glu279Gln
ENST00000673284.1:c.835G>C ENSP00000499852.1:p.Glu279Gln
ENST00000345378.6:c.838G>C ENSP00000223366.2:p.Glu280Gln
ENST00000395796.7:c.832G>C ENSP00000379142.3:p.Glu278Gln
ENST00000403799.7:c.835G>C ENSP00000384247.3:p.Glu279Gln
ENST00000437084.1:c.784G>C ENSP00000402840.1:p.Glu262Gln
ENST00000616242.4:c.832G>C ENSP00000482149.1:p.Glu278Gln
NM_000162.3:c.835G>C NP_000153.1:p.Glu279Gln
NM_033507.1:c.838G>C NP_277042.1:p.Glu280Gln
NM_033508.1:c.832G>C NP_277043.1:p.Glu278Gln
XR_927223.1:n.12C>G
NM_000162.4:c.835G>C NP_000153.1:p.Glu279Gln
NM_001354800.1:c.835G>C NP_001341729.1:p.Glu279Gln
NM_033507.2:c.838G>C NP_277042.1:p.Glu280Gln
NM_033508.2:c.832G>C NP_277043.1:p.Glu278Gln
XR_927223.2:n.12C>G
NM_000162.5:c.835G>C MANE Select NP_000153.1:p.Glu279Gln
NM_033507.3:c.838G>C NP_277042.1:p.Glu280Gln
NM_033508.3:c.832G>C NP_277043.1:p.Glu278Gln
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