Canonical Allele Identifier: CA4239563
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 500508
ClinVar RCV Id: RCV000591848 RCV000883078 RCV002331016
dbSNP Id: rs142952813
ExAC: 7:44189378 G / A
gnomAD v2: 7-44189378-G-A
gnomAD v3: 7-44149779-G-A
gnomAD v4: 7-44149779-G-A
COSMIC: COSM295721
MyVariant Identifiers: chr7:g.44189378G>A (hg19) chr7:g.44149779G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149779G>A , CM000669.2:g.44149779G>A GRCh38
NC_000007.13:g.44189378G>A , CM000669.1:g.44189378G>A GRCh37
NC_000007.12:g.44155903G>A NCBI36
NG_008847.1:g.44645C>T
NG_008847.2:g.53392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*658C>T ENSP00000379142.4:n.*658C>T
ENST00000616242.5:c.660C>T ENSP00000482149.2:p.Cys220=
ENST00000682635.1:n.1146C>T
ENST00000345378.7:c.663C>T ENSP00000223366.2:p.Cys221=
ENST00000403799.8:c.660C>T MANE Select ENSP00000384247.3:p.Cys220=
ENST00000671824.1:c.660C>T ENSP00000500264.1:p.Cys220=
ENST00000673284.1:c.660C>T ENSP00000499852.1:p.Cys220=
ENST00000345378.6:c.663C>T ENSP00000223366.2:p.Cys221=
ENST00000395796.7:c.657C>T ENSP00000379142.3:p.Cys219=
ENST00000403799.7:c.660C>T ENSP00000384247.3:p.Cys220=
ENST00000437084.1:c.609C>T ENSP00000402840.1:p.Cys203=
ENST00000616242.4:c.657C>T ENSP00000482149.1:p.Cys219=
NM_000162.3:c.660C>T NP_000153.1:p.Cys220=
NM_033507.1:c.663C>T NP_277042.1:p.Cys221=
NM_033508.1:c.657C>T NP_277043.1:p.Cys219=
NM_000162.4:c.660C>T NP_000153.1:p.Cys220=
NM_001354800.1:c.660C>T NP_001341729.1:p.Cys220=
NM_033507.2:c.663C>T NP_277042.1:p.Cys221=
NM_033508.2:c.657C>T NP_277043.1:p.Cys219=
NM_000162.5:c.660C>T MANE Select NP_000153.1:p.Cys220=
NM_033507.3:c.663C>T NP_277042.1:p.Cys221=
NM_033508.3:c.657C>T NP_277043.1:p.Cys219=
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