Canonical Allele Identifier: CA367401894
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3234001
ClinVar RCV Id: RCV004527577
MyVariant Identifiers: chr7:g.44190572G>C (hg19) chr7:g.44150973G>C (hg38)
ERepo: CA367401894/MONDO:0015967/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150973G>C , CM000669.2:g.44150973G>C GRCh38
NC_000007.13:g.44190572G>C , CM000669.1:g.44190572G>C GRCh37
NC_000007.12:g.44157097G>C NCBI36
NG_008847.1:g.43451C>G
NG_008847.2:g.52198C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*464C>G ENSP00000379142.4:n.*464C>G
ENST00000616242.5:c.466C>G ENSP00000482149.2:p.His156Asp
ENST00000682635.1:n.952C>G
ENST00000345378.7:c.469C>G ENSP00000223366.2:p.His157Asp
ENST00000403799.8:c.466C>G MANE Select ENSP00000384247.3:p.His156Asp
ENST00000671824.1:c.466C>G ENSP00000500264.1:p.His156Asp
ENST00000673284.1:c.466C>G ENSP00000499852.1:p.His156Asp
ENST00000345378.6:c.469C>G ENSP00000223366.2:p.His157Asp
ENST00000395796.7:c.463C>G ENSP00000379142.3:p.His155Asp
ENST00000403799.7:c.466C>G ENSP00000384247.3:p.His156Asp
ENST00000437084.1:c.415C>G ENSP00000402840.1:p.His139Asp
ENST00000616242.4:c.463C>G ENSP00000482149.1:p.His155Asp
NM_000162.3:c.466C>G NP_000153.1:p.His156Asp
NM_033507.1:c.469C>G NP_277042.1:p.His157Asp
NM_033508.1:c.463C>G NP_277043.1:p.His155Asp
NM_000162.4:c.466C>G NP_000153.1:p.His156Asp
NM_001354800.1:c.466C>G NP_001341729.1:p.His156Asp
NM_033507.2:c.469C>G NP_277042.1:p.His157Asp
NM_033508.2:c.463C>G NP_277043.1:p.His155Asp
NM_000162.5:c.466C>G MANE Select NP_000153.1:p.His156Asp
NM_033507.3:c.469C>G NP_277042.1:p.His157Asp
NM_033508.3:c.463C>G NP_277043.1:p.His155Asp
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