Canonical Allele Identifier: CA367400713
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147798-G-C
MyVariant Identifiers: chr7:g.44187397G>C (hg19) chr7:g.44147798G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147798G>C , CM000669.2:g.44147798G>C GRCh38
NC_000007.13:g.44187397G>C , CM000669.1:g.44187397G>C GRCh37
NC_000007.12:g.44153922G>C NCBI36
NG_008847.1:g.46626C>G
NG_008847.2:g.55373C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*713C>G ENSP00000379142.4:n.*713C>G
ENST00000616242.5:c.715C>G ENSP00000482149.2:p.Gln239Glu
ENST00000345378.7:c.718C>G ENSP00000223366.2:p.Gln240Glu
ENST00000403799.8:c.715C>G MANE Select ENSP00000384247.3:p.Gln239Glu
ENST00000671824.1:c.715C>G ENSP00000500264.1:p.Gln239Glu
ENST00000673284.1:c.715C>G ENSP00000499852.1:p.Gln239Glu
ENST00000345378.6:c.718C>G ENSP00000223366.2:p.Gln240Glu
ENST00000395796.7:c.712C>G ENSP00000379142.3:p.Gln238Glu
ENST00000403799.7:c.715C>G ENSP00000384247.3:p.Gln239Glu
ENST00000437084.1:c.664C>G ENSP00000402840.1:p.Gln222Glu
ENST00000616242.4:c.712C>G ENSP00000482149.1:p.Gln238Glu
NM_000162.3:c.715C>G NP_000153.1:p.Gln239Glu
NM_033507.1:c.718C>G NP_277042.1:p.Gln240Glu
NM_033508.1:c.712C>G NP_277043.1:p.Gln238Glu
XR_927223.1:n.82+50G>C
NM_000162.4:c.715C>G NP_000153.1:p.Gln239Glu
NM_001354800.1:c.715C>G NP_001341729.1:p.Gln239Glu
NM_033507.2:c.718C>G NP_277042.1:p.Gln240Glu
NM_033508.2:c.712C>G NP_277043.1:p.Gln238Glu
XR_927223.2:n.82+50G>C
NM_000162.5:c.715C>G MANE Select NP_000153.1:p.Gln239Glu
NM_033507.3:c.718C>G NP_277042.1:p.Gln240Glu
NM_033508.3:c.712C>G NP_277043.1:p.Gln238Glu
Search 100 bp 5'
Search 100 bp 3'