Canonical Allele Identifier: CA367400530
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs778060949
gnomAD v3: 7-44147712-G-C
gnomAD v4: 7-44147712-G-C
MyVariant Identifiers: chr7:g.44187311G>C (hg19) chr7:g.44147712G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147712G>C , CM000669.2:g.44147712G>C GRCh38
NC_000007.13:g.44187311G>C , CM000669.1:g.44187311G>C GRCh37
NC_000007.12:g.44153836G>C NCBI36
NG_008847.1:g.46712C>G
NG_008847.2:g.55459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*799C>G ENSP00000379142.4:n.*799C>G
ENST00000616242.5:c.801C>G ENSP00000482149.2:p.Asp267Glu
ENST00000345378.7:c.804C>G ENSP00000223366.2:p.Asp268Glu
ENST00000403799.8:c.801C>G MANE Select ENSP00000384247.3:p.Asp267Glu
ENST00000671824.1:c.801C>G ENSP00000500264.1:p.Asp267Glu
ENST00000673284.1:c.801C>G ENSP00000499852.1:p.Asp267Glu
ENST00000345378.6:c.804C>G ENSP00000223366.2:p.Asp268Glu
ENST00000395796.7:c.798C>G ENSP00000379142.3:p.Asp266Glu
ENST00000403799.7:c.801C>G ENSP00000384247.3:p.Asp267Glu
ENST00000437084.1:c.750C>G ENSP00000402840.1:p.Asp250Glu
ENST00000616242.4:c.798C>G ENSP00000482149.1:p.Asp266Glu
NM_000162.3:c.801C>G NP_000153.1:p.Asp267Glu
NM_033507.1:c.804C>G NP_277042.1:p.Asp268Glu
NM_033508.1:c.798C>G NP_277043.1:p.Asp266Glu
XR_927223.1:n.46G>C
NM_000162.4:c.801C>G NP_000153.1:p.Asp267Glu
NM_001354800.1:c.801C>G NP_001341729.1:p.Asp267Glu
NM_033507.2:c.804C>G NP_277042.1:p.Asp268Glu
NM_033508.2:c.798C>G NP_277043.1:p.Asp266Glu
XR_927223.2:n.46G>C
NM_000162.5:c.801C>G MANE Select NP_000153.1:p.Asp267Glu
NM_033507.3:c.804C>G NP_277042.1:p.Asp268Glu
NM_033508.3:c.798C>G NP_277043.1:p.Asp266Glu
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