Canonical Allele Identifier: CA367402231
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585919
ClinVar RCV Id: RCV000711772 RCV003993677
dbSNP Id: rs1554335616
MyVariant Identifiers: chr7:g.44190674G>C (hg19) chr7:g.44151075G>C (hg38)
ERepo: CA367402231/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151075G>C , CM000669.2:g.44151075G>C GRCh38
NC_000007.13:g.44190674G>C , CM000669.1:g.44190674G>C GRCh37
NC_000007.12:g.44157199G>C NCBI36
NG_008847.1:g.43349C>G
NG_008847.2:g.52096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*362C>G ENSP00000379142.4:n.*362C>G
ENST00000616242.5:c.364C>G ENSP00000482149.2:p.Leu122Val
ENST00000682635.1:n.850C>G
ENST00000345378.7:c.367C>G ENSP00000223366.2:p.Leu123Val
ENST00000403799.8:c.364C>G MANE Select ENSP00000384247.3:p.Leu122Val
ENST00000671824.1:c.364C>G ENSP00000500264.1:p.Leu122Val
ENST00000673284.1:c.364C>G ENSP00000499852.1:p.Leu122Val
ENST00000345378.6:c.367C>G ENSP00000223366.2:p.Leu123Val
ENST00000395796.7:c.361C>G ENSP00000379142.3:p.Leu121Val
ENST00000403799.7:c.364C>G ENSP00000384247.3:p.Leu122Val
ENST00000437084.1:c.364-51C>G ENSP00000402840.1:n.364-51C>G
ENST00000616242.4:c.361C>G ENSP00000482149.1:p.Leu121Val
NM_000162.3:c.364C>G NP_000153.1:p.Leu122Val
NM_033507.1:c.367C>G NP_277042.1:p.Leu123Val
NM_033508.1:c.361C>G NP_277043.1:p.Leu121Val
NM_000162.4:c.364C>G NP_000153.1:p.Leu122Val
NM_001354800.1:c.364C>G NP_001341729.1:p.Leu122Val
NM_033507.2:c.367C>G NP_277042.1:p.Leu123Val
NM_033508.2:c.361C>G NP_277043.1:p.Leu121Val
NM_000162.5:c.364C>G MANE Select NP_000153.1:p.Leu122Val
NM_033507.3:c.367C>G NP_277042.1:p.Leu123Val
NM_033508.3:c.361C>G NP_277043.1:p.Leu121Val
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