Canonical Allele Identifier: CA367401967
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447399
ClinVar RCV Id: RCV000518632 RCV002464020 RCV003403214
dbSNP Id: rs1554335582
MyVariant Identifiers: chr7:g.44190596A>T (hg19) chr7:g.44150997A>T (hg38)
ERepo: CA367401967/MONDO:0015967/086
PubMed: PMID:19790256
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150997A>T , CM000669.2:g.44150997A>T GRCh38
NC_000007.13:g.44190596A>T , CM000669.1:g.44190596A>T GRCh37
NC_000007.12:g.44157121A>T NCBI36
NG_008847.1:g.43427T>A
NG_008847.2:g.52174T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*440T>A ENSP00000379142.4:n.*440T>A
ENST00000616242.5:c.442T>A ENSP00000482149.2:p.Phe148Ile
ENST00000682635.1:n.928T>A
ENST00000345378.7:c.445T>A ENSP00000223366.2:p.Phe149Ile
ENST00000403799.8:c.442T>A MANE Select ENSP00000384247.3:p.Phe148Ile
ENST00000671824.1:c.442T>A ENSP00000500264.1:p.Phe148Ile
ENST00000673284.1:c.442T>A ENSP00000499852.1:p.Phe148Ile
ENST00000345378.6:c.445T>A ENSP00000223366.2:p.Phe149Ile
ENST00000395796.7:c.439T>A ENSP00000379142.3:p.Phe147Ile
ENST00000403799.7:c.442T>A ENSP00000384247.3:p.Phe148Ile
ENST00000437084.1:c.391T>A ENSP00000402840.1:p.Phe131Ile
ENST00000616242.4:c.439T>A ENSP00000482149.1:p.Phe147Ile
NM_000162.3:c.442T>A NP_000153.1:p.Phe148Ile
NM_033507.1:c.445T>A NP_277042.1:p.Phe149Ile
NM_033508.1:c.439T>A NP_277043.1:p.Phe147Ile
NM_000162.4:c.442T>A NP_000153.1:p.Phe148Ile
NM_001354800.1:c.442T>A NP_001341729.1:p.Phe148Ile
NM_033507.2:c.445T>A NP_277042.1:p.Phe149Ile
NM_033508.2:c.439T>A NP_277043.1:p.Phe147Ile
NM_000162.5:c.442T>A MANE Select NP_000153.1:p.Phe148Ile
NM_033507.3:c.445T>A NP_277042.1:p.Phe149Ile
NM_033508.3:c.439T>A NP_277043.1:p.Phe147Ile
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