Canonical Allele Identifier: CA367400799
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585924
ClinVar RCV Id: RCV000711782 RCV002298750 RCV002360845
dbSNP Id: rs1562715657
gnomAD v4: 7-44147835-T-C
MyVariant Identifiers: chr7:g.44187434T>C (hg19) chr7:g.44147835T>C (hg38)
ERepo: CA367400799/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147835T>C , CM000669.2:g.44147835T>C GRCh38
NC_000007.13:g.44187434T>C , CM000669.1:g.44187434T>C GRCh37
NC_000007.12:g.44153959T>C NCBI36
NG_008847.1:g.46589A>G
NG_008847.2:g.55336A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-2A>G ENSP00000379142.4:n.*678-2A>G
ENST00000616242.5:c.680-2A>G ENSP00000482149.2:n.680-2A>G
ENST00000345378.7:c.683-2A>G ENSP00000223366.2:n.683-2A>G
ENST00000403799.8:c.680-2A>G MANE Select ENSP00000384247.3:n.680-2A>G
ENST00000671824.1:c.680-2A>G ENSP00000500264.1:n.680-2A>G
ENST00000673284.1:c.680-2A>G ENSP00000499852.1:n.680-2A>G
ENST00000345378.6:c.683-2A>G ENSP00000223366.2:n.683-2A>G
ENST00000395796.7:c.677-2A>G ENSP00000379142.3:n.677-2A>G
ENST00000403799.7:c.680-2A>G ENSP00000384247.3:n.680-2A>G
ENST00000437084.1:c.629-2A>G ENSP00000402840.1:n.629-2A>G
ENST00000616242.4:c.677-2A>G ENSP00000482149.1:n.677-2A>G
NM_000162.3:c.680-2A>G NP_000153.1:n.680-2A>G
NM_033507.1:c.683-2A>G NP_277042.1:n.683-2A>G
NM_033508.1:c.677-2A>G NP_277043.1:n.677-2A>G
XR_927223.1:n.82+87T>C
NM_000162.4:c.680-2A>G NP_000153.1:n.680-2A>G
NM_001354800.1:c.680-2A>G NP_001341729.1:n.680-2A>G
NM_033507.2:c.683-2A>G NP_277042.1:n.683-2A>G
NM_033508.2:c.677-2A>G NP_277043.1:n.677-2A>G
XR_927223.2:n.82+87T>C
NM_000162.5:c.680-2A>G MANE Select NP_000153.1:n.680-2A>G
NM_033507.3:c.683-2A>G NP_277042.1:n.683-2A>G
NM_033508.3:c.677-2A>G NP_277043.1:n.677-2A>G
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