Canonical Allele Identifier: CA157911557
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs995757156
gnomAD v4: 7-44144884-A-G
MyVariant Identifiers: chr7:g.44184483A>G (hg19) chr7:g.44144884A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144884A>G , CM000669.2:g.44144884A>G GRCh38
NC_000007.13:g.44184483A>G , CM000669.1:g.44184483A>G GRCh37
NC_000007.12:g.44151008A>G NCBI36
NG_008847.1:g.49540T>C
NG_008847.2:g.58287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1648T>C ENSP00000379142.4:n.*1648T>C
ENST00000616242.5:c.*770T>C ENSP00000482149.2:n.*770T>C
ENST00000683378.1:n.876T>C
ENST00000336642.9:c.*252T>C ENSP00000338009.5:n.*252T>C
ENST00000345378.7:c.*252T>C ENSP00000223366.2:n.*252T>C
ENST00000403799.8:c.*252T>C MANE Select ENSP00000384247.3:n.*252T>C
ENST00000671824.1:c.*252T>C ENSP00000500264.1:n.*252T>C
ENST00000672743.1:n.381+281T>C
ENST00000673284.1:c.1369+281T>C ENSP00000499852.1:n.1369+281T>C
ENST00000336642.8:c.702T>C ENSP00000338009.4:n.702T>C
ENST00000345378.6:c.*252T>C ENSP00000223366.2:n.*252T>C
ENST00000395796.7:c.*252T>C ENSP00000379142.3:n.*252T>C
ENST00000403799.7:c.*252T>C ENSP00000384247.3:n.*252T>C
ENST00000459642.1:n.1030T>C
ENST00000616242.4:c.1647T>C ENSP00000482149.1:n.1647T>C
NM_000162.3:c.*252T>C NP_000153.1:n.*252T>C
NM_033507.1:c.*252T>C NP_277042.1:n.*252T>C
NM_033508.1:c.*252T>C NP_277043.1:n.*252T>C
NM_000162.4:c.*252T>C NP_000153.1:n.*252T>C
NM_001354800.1:c.1369+281T>C NP_001341729.1:n.1369+281T>C
NM_001354801.1:c.*252T>C NP_001341730.1:n.*252T>C
NM_001354802.1:c.229+281T>C NP_001341731.1:n.229+281T>C
NM_001354803.1:c.*252T>C NP_001341732.1:n.*252T>C
NM_033507.2:c.*252T>C NP_277042.1:n.*252T>C
NM_033508.2:c.*252T>C NP_277043.1:n.*252T>C
XM_024446707.1:c.*252T>C XP_024302475.1:n.*252T>C
NM_000162.5:c.*252T>C MANE Select NP_000153.1:n.*252T>C
NM_033507.3:c.*252T>C NP_277042.1:n.*252T>C
NM_033508.3:c.*252T>C NP_277043.1:n.*252T>C
NM_001354803.2:c.*252T>C NP_001341732.1:n.*252T>C
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