Canonical Allele Identifier: CA367401942
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3068510
ClinVar RCV Id: RCV003993702
COSMIC: COSM3950534 COSM3950535 COSM3950536
MyVariant Identifiers: chr7:g.44190588G>T (hg19) chr7:g.44150989G>T (hg38)
ERepo: CA367401942/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150989G>T , CM000669.2:g.44150989G>T GRCh38
NC_000007.13:g.44190588G>T , CM000669.1:g.44190588G>T GRCh37
NC_000007.12:g.44157113G>T NCBI36
NG_008847.1:g.43435C>A
NG_008847.2:g.52182C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*448C>A ENSP00000379142.4:n.*448C>A
ENST00000616242.5:c.450C>A ENSP00000482149.2:p.Phe150Leu
ENST00000682635.1:n.936C>A
ENST00000345378.7:c.453C>A ENSP00000223366.2:p.Phe151Leu
ENST00000403799.8:c.450C>A MANE Select ENSP00000384247.3:p.Phe150Leu
ENST00000671824.1:c.450C>A ENSP00000500264.1:p.Phe150Leu
ENST00000673284.1:c.450C>A ENSP00000499852.1:p.Phe150Leu
ENST00000345378.6:c.453C>A ENSP00000223366.2:p.Phe151Leu
ENST00000395796.7:c.447C>A ENSP00000379142.3:p.Phe149Leu
ENST00000403799.7:c.450C>A ENSP00000384247.3:p.Phe150Leu
ENST00000437084.1:c.399C>A ENSP00000402840.1:p.Phe133Leu
ENST00000616242.4:c.447C>A ENSP00000482149.1:p.Phe149Leu
NM_000162.3:c.450C>A NP_000153.1:p.Phe150Leu
NM_033507.1:c.453C>A NP_277042.1:p.Phe151Leu
NM_033508.1:c.447C>A NP_277043.1:p.Phe149Leu
NM_000162.4:c.450C>A NP_000153.1:p.Phe150Leu
NM_001354800.1:c.450C>A NP_001341729.1:p.Phe150Leu
NM_033507.2:c.453C>A NP_277042.1:p.Phe151Leu
NM_033508.2:c.447C>A NP_277043.1:p.Phe149Leu
NM_000162.5:c.450C>A MANE Select NP_000153.1:p.Phe150Leu
NM_033507.3:c.453C>A NP_277042.1:p.Phe151Leu
NM_033508.3:c.447C>A NP_277043.1:p.Phe149Leu
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