Canonical Allele Identifier: CA367402147
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3024422
ClinVar RCV Id: RCV003883458
MyVariant Identifiers: chr7:g.44190649A>T (hg19) chr7:g.44151050A>T (hg38)
ERepo: CA367402147/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151050A>T , CM000669.2:g.44151050A>T GRCh38
NC_000007.13:g.44190649A>T , CM000669.1:g.44190649A>T GRCh37
NC_000007.12:g.44157174A>T NCBI36
NG_008847.1:g.43374T>A
NG_008847.2:g.52121T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*387T>A ENSP00000379142.4:n.*387T>A
ENST00000616242.5:c.389T>A ENSP00000482149.2:p.Ile130Asn
ENST00000682635.1:n.875T>A
ENST00000345378.7:c.392T>A ENSP00000223366.2:p.Ile131Asn
ENST00000403799.8:c.389T>A MANE Select ENSP00000384247.3:p.Ile130Asn
ENST00000671824.1:c.389T>A ENSP00000500264.1:p.Ile130Asn
ENST00000673284.1:c.389T>A ENSP00000499852.1:p.Ile130Asn
ENST00000345378.6:c.392T>A ENSP00000223366.2:p.Ile131Asn
ENST00000395796.7:c.386T>A ENSP00000379142.3:p.Ile129Asn
ENST00000403799.7:c.389T>A ENSP00000384247.3:p.Ile130Asn
ENST00000437084.1:c.364-26T>A ENSP00000402840.1:n.364-26T>A
ENST00000616242.4:c.386T>A ENSP00000482149.1:p.Ile129Asn
NM_000162.3:c.389T>A NP_000153.1:p.Ile130Asn
NM_033507.1:c.392T>A NP_277042.1:p.Ile131Asn
NM_033508.1:c.386T>A NP_277043.1:p.Ile129Asn
NM_000162.4:c.389T>A NP_000153.1:p.Ile130Asn
NM_001354800.1:c.389T>A NP_001341729.1:p.Ile130Asn
NM_033507.2:c.392T>A NP_277042.1:p.Ile131Asn
NM_033508.2:c.386T>A NP_277043.1:p.Ile129Asn
NM_000162.5:c.389T>A MANE Select NP_000153.1:p.Ile130Asn
NM_033507.3:c.392T>A NP_277042.1:p.Ile131Asn
NM_033508.3:c.386T>A NP_277043.1:p.Ile129Asn
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