Canonical Allele Identifier: CA367402690
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585918
ClinVar RCV Id: RCV000711770 RCV003480801
dbSNP Id: rs193922292
gnomAD v4: 7-44152312-A-G
MyVariant Identifiers: chr7:g.44191911A>G (hg19) chr7:g.44152312A>G (hg38)
ERepo: CA367402690/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44152312A>G , CM000669.2:g.44152312A>G GRCh38
NC_000007.13:g.44191911A>G , CM000669.1:g.44191911A>G GRCh37
NC_000007.12:g.44158436A>G NCBI36
NG_008847.1:g.42112T>C
NG_008847.2:g.50859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*320T>C ENSP00000379142.4:n.*320T>C
ENST00000616242.5:c.322T>C ENSP00000482149.2:p.Tyr108His
ENST00000682635.1:n.808T>C
ENST00000345378.7:c.325T>C ENSP00000223366.2:p.Tyr109His
ENST00000403799.8:c.322T>C MANE Select ENSP00000384247.3:p.Tyr108His
ENST00000671824.1:c.322T>C ENSP00000500264.1:p.Tyr108His
ENST00000673284.1:c.322T>C ENSP00000499852.1:p.Tyr108His
ENST00000345378.6:c.325T>C ENSP00000223366.2:p.Tyr109His
ENST00000395796.7:c.319T>C ENSP00000379142.3:p.Tyr107His
ENST00000403799.7:c.322T>C ENSP00000384247.3:p.Tyr108His
ENST00000437084.1:c.322T>C ENSP00000402840.1:p.Tyr108His
ENST00000616242.4:c.319T>C ENSP00000482149.1:p.Tyr107His
NM_000162.3:c.322T>C NP_000153.1:p.Tyr108His
NM_033507.1:c.325T>C NP_277042.1:p.Tyr109His
NM_033508.1:c.319T>C NP_277043.1:p.Tyr107His
NM_000162.4:c.322T>C NP_000153.1:p.Tyr108His
NM_001354800.1:c.322T>C NP_001341729.1:p.Tyr108His
NM_033507.2:c.325T>C NP_277042.1:p.Tyr109His
NM_033508.2:c.319T>C NP_277043.1:p.Tyr107His
NM_000162.5:c.322T>C MANE Select NP_000153.1:p.Tyr108His
NM_033507.3:c.325T>C NP_277042.1:p.Tyr109His
NM_033508.3:c.319T>C NP_277043.1:p.Tyr107His
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