Canonical Allele Identifier: CA16605219
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 381599
ClinVar RCV Id: RCV000419860
dbSNP Id: rs1057521093
MyVariant Identifiers: chr7:g.44187409T>C (hg19) chr7:g.44147810T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147810T>C , CM000669.2:g.44147810T>C GRCh38
NC_000007.13:g.44187409T>C , CM000669.1:g.44187409T>C GRCh37
NC_000007.12:g.44153934T>C NCBI36
NG_008847.1:g.46614A>G
NG_008847.2:g.55361A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*701A>G ENSP00000379142.4:n.*701A>G
ENST00000616242.5:c.703A>G ENSP00000482149.2:p.Met235Val
ENST00000345378.7:c.706A>G ENSP00000223366.2:p.Met236Val
ENST00000403799.8:c.703A>G MANE Select ENSP00000384247.3:p.Met235Val
ENST00000671824.1:c.703A>G ENSP00000500264.1:p.Met235Val
ENST00000673284.1:c.703A>G ENSP00000499852.1:p.Met235Val
ENST00000345378.6:c.706A>G ENSP00000223366.2:p.Met236Val
ENST00000395796.7:c.700A>G ENSP00000379142.3:p.Met234Val
ENST00000403799.7:c.703A>G ENSP00000384247.3:p.Met235Val
ENST00000437084.1:c.652A>G ENSP00000402840.1:p.Met218Val
ENST00000616242.4:c.700A>G ENSP00000482149.1:p.Met234Val
NM_000162.3:c.703A>G NP_000153.1:p.Met235Val
NM_033507.1:c.706A>G NP_277042.1:p.Met236Val
NM_033508.1:c.700A>G NP_277043.1:p.Met234Val
XR_927223.1:n.82+62T>C
NM_000162.4:c.703A>G NP_000153.1:p.Met235Val
NM_001354800.1:c.703A>G NP_001341729.1:p.Met235Val
NM_033507.2:c.706A>G NP_277042.1:p.Met236Val
NM_033508.2:c.700A>G NP_277043.1:p.Met234Val
XR_927223.2:n.82+62T>C
NM_000162.5:c.703A>G MANE Select NP_000153.1:p.Met235Val
NM_033507.3:c.706A>G NP_277042.1:p.Met236Val
NM_033508.3:c.700A>G NP_277043.1:p.Met234Val
Search 100 bp 5'
Search 100 bp 3'