Canonical Allele Identifier: CA157913459
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs542306878
gnomAD v2: 7-44185167-G-C
gnomAD v4: 7-44145568-G-C
MyVariant Identifiers: chr7:g.44185167G>C (hg19) chr7:g.44145568G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145568G>C , CM000669.2:g.44145568G>C GRCh38
NC_000007.13:g.44185167G>C , CM000669.1:g.44185167G>C GRCh37
NC_000007.12:g.44151692G>C NCBI36
NG_008847.1:g.48856C>G
NG_008847.2:g.57603C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1180C>G ENSP00000379142.4:n.*1180C>G
ENST00000616242.5:c.*302C>G ENSP00000482149.2:n.*302C>G
ENST00000683378.1:n.408C>G
ENST00000336642.9:c.216C>G ENSP00000338009.5:p.Arg72=
ENST00000345378.7:c.1185C>G ENSP00000223366.2:p.Arg395=
ENST00000403799.8:c.1182C>G MANE Select ENSP00000384247.3:p.Arg394=
ENST00000671824.1:c.1245C>G ENSP00000500264.1:p.Arg415=
ENST00000672743.1:n.194C>G
ENST00000673284.1:c.1182C>G ENSP00000499852.1:p.Arg394=
ENST00000336642.8:c.234C>G ENSP00000338009.4:p.Arg78=
ENST00000345378.6:c.1185C>G ENSP00000223366.2:p.Arg395=
ENST00000395796.7:c.1179C>G ENSP00000379142.3:p.Arg393=
ENST00000403799.7:c.1182C>G ENSP00000384247.3:p.Arg394=
ENST00000437084.1:c.1131C>G ENSP00000402840.1:p.Arg377=
ENST00000459642.1:n.562C>G
ENST00000616242.4:c.1179C>G ENSP00000482149.1:p.Arg393=
NM_000162.3:c.1182C>G NP_000153.1:p.Arg394=
NM_033507.1:c.1185C>G NP_277042.1:p.Arg395=
NM_033508.1:c.1179C>G NP_277043.1:p.Arg393=
NM_000162.4:c.1182C>G NP_000153.1:p.Arg394=
NM_001354800.1:c.1182C>G NP_001341729.1:p.Arg394=
NM_001354801.1:c.171C>G NP_001341730.1:p.Arg57=
NM_001354802.1:c.42C>G NP_001341731.1:p.Arg14=
NM_001354803.1:c.216C>G NP_001341732.1:p.Arg72=
NM_033507.2:c.1185C>G NP_277042.1:p.Arg395=
NM_033508.2:c.1179C>G NP_277043.1:p.Arg393=
XM_024446707.1:c.42C>G XP_024302475.1:p.Arg14=
NM_000162.5:c.1182C>G MANE Select NP_000153.1:p.Arg394=
NM_033507.3:c.1185C>G NP_277042.1:p.Arg395=
NM_033508.3:c.1179C>G NP_277043.1:p.Arg393=
NM_001354803.2:c.216C>G NP_001341732.1:p.Arg72=
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