Canonical Allele Identifier: CA367400705
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 617647
ClinVar RCV Id: RCV000754808 RCV002463738
dbSNP Id: rs1562715574
MyVariant Identifiers: chr7:g.44187394T>C (hg19) chr7:g.44147795T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147795T>C , CM000669.2:g.44147795T>C GRCh38
NC_000007.13:g.44187394T>C , CM000669.1:g.44187394T>C GRCh37
NC_000007.12:g.44153919T>C NCBI36
NG_008847.1:g.46629A>G
NG_008847.2:g.55376A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*716A>G ENSP00000379142.4:n.*716A>G
ENST00000616242.5:c.718A>G ENSP00000482149.2:p.Asn240Asp
ENST00000345378.7:c.721A>G ENSP00000223366.2:p.Asn241Asp
ENST00000403799.8:c.718A>G MANE Select ENSP00000384247.3:p.Asn240Asp
ENST00000671824.1:c.718A>G ENSP00000500264.1:p.Asn240Asp
ENST00000673284.1:c.718A>G ENSP00000499852.1:p.Asn240Asp
ENST00000345378.6:c.721A>G ENSP00000223366.2:p.Asn241Asp
ENST00000395796.7:c.715A>G ENSP00000379142.3:p.Asn239Asp
ENST00000403799.7:c.718A>G ENSP00000384247.3:p.Asn240Asp
ENST00000437084.1:c.667A>G ENSP00000402840.1:p.Asn223Asp
ENST00000616242.4:c.715A>G ENSP00000482149.1:p.Asn239Asp
NM_000162.3:c.718A>G NP_000153.1:p.Asn240Asp
NM_033507.1:c.721A>G NP_277042.1:p.Asn241Asp
NM_033508.1:c.715A>G NP_277043.1:p.Asn239Asp
XR_927223.1:n.82+47T>C
NM_000162.4:c.718A>G NP_000153.1:p.Asn240Asp
NM_001354800.1:c.718A>G NP_001341729.1:p.Asn240Asp
NM_033507.2:c.721A>G NP_277042.1:p.Asn241Asp
NM_033508.2:c.715A>G NP_277043.1:p.Asn239Asp
XR_927223.2:n.82+47T>C
NM_000162.5:c.718A>G MANE Select NP_000153.1:p.Asn240Asp
NM_033507.3:c.721A>G NP_277042.1:p.Asn241Asp
NM_033508.3:c.715A>G NP_277043.1:p.Asn239Asp
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