Canonical Allele Identifier: CA367400415
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2735002
ClinVar RCV Id: RCV003555333
MyVariant Identifiers: chr7:g.44187256G>A (hg19) chr7:g.44147657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147657G>A , CM000669.2:g.44147657G>A GRCh38
NC_000007.13:g.44187256G>A , CM000669.1:g.44187256G>A GRCh37
NC_000007.12:g.44153781G>A NCBI36
NG_008847.1:g.46767C>T
NG_008847.2:g.55514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*854C>T ENSP00000379142.4:n.*854C>T
ENST00000616242.5:c.853+3C>T ENSP00000482149.2:n.853+3C>T
ENST00000345378.7:c.859C>T ENSP00000223366.2:p.Gln287Ter
ENST00000403799.8:c.856C>T MANE Select ENSP00000384247.3:p.Gln286Ter
ENST00000671824.1:c.853+3C>T ENSP00000500264.1:n.853+3C>T
ENST00000673284.1:c.856C>T ENSP00000499852.1:p.Gln286Ter
ENST00000345378.6:c.859C>T ENSP00000223366.2:p.Gln287Ter
ENST00000395796.7:c.853C>T ENSP00000379142.3:p.Gln285Ter
ENST00000403799.7:c.856C>T ENSP00000384247.3:p.Gln286Ter
ENST00000437084.1:c.805C>T ENSP00000402840.1:p.Gln269Ter
ENST00000616242.4:c.853C>T ENSP00000482149.1:p.Gln285Ter
NM_000162.3:c.856C>T NP_000153.1:p.Gln286Ter
NM_033507.1:c.859C>T NP_277042.1:p.Gln287Ter
NM_033508.1:c.853C>T NP_277043.1:p.Gln285Ter
NM_000162.4:c.856C>T NP_000153.1:p.Gln286Ter
NM_001354800.1:c.856C>T NP_001341729.1:p.Gln286Ter
NM_033507.2:c.859C>T NP_277042.1:p.Gln287Ter
NM_033508.2:c.853C>T NP_277043.1:p.Gln285Ter
NM_000162.5:c.856C>T MANE Select NP_000153.1:p.Gln286Ter
NM_033507.3:c.859C>T NP_277042.1:p.Gln287Ter
NM_033508.3:c.853C>T NP_277043.1:p.Gln285Ter
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