Canonical Allele Identifier: CA4239630
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs779091112
ExAC: 7:44190578 C / G
gnomAD v2: 7-44190578-C-G
MyVariant Identifiers: chr7:g.44190578C>G (hg19) chr7:g.44150979C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150979C>G , CM000669.2:g.44150979C>G GRCh38
NC_000007.13:g.44190578C>G , CM000669.1:g.44190578C>G GRCh37
NC_000007.12:g.44157103C>G NCBI36
NG_008847.1:g.43445G>C
NG_008847.2:g.52192G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*458G>C ENSP00000379142.4:n.*458G>C
ENST00000616242.5:c.460G>C ENSP00000482149.2:p.Val154Leu
ENST00000682635.1:n.946G>C
ENST00000345378.7:c.463G>C ENSP00000223366.2:p.Val155Leu
ENST00000403799.8:c.460G>C MANE Select ENSP00000384247.3:p.Val154Leu
ENST00000671824.1:c.460G>C ENSP00000500264.1:p.Val154Leu
ENST00000673284.1:c.460G>C ENSP00000499852.1:p.Val154Leu
ENST00000345378.6:c.463G>C ENSP00000223366.2:p.Val155Leu
ENST00000395796.7:c.457G>C ENSP00000379142.3:p.Val153Leu
ENST00000403799.7:c.460G>C ENSP00000384247.3:p.Val154Leu
ENST00000437084.1:c.409G>C ENSP00000402840.1:p.Val137Leu
ENST00000616242.4:c.457G>C ENSP00000482149.1:p.Val153Leu
NM_000162.3:c.460G>C NP_000153.1:p.Val154Leu
NM_033507.1:c.463G>C NP_277042.1:p.Val155Leu
NM_033508.1:c.457G>C NP_277043.1:p.Val153Leu
NM_000162.4:c.460G>C NP_000153.1:p.Val154Leu
NM_001354800.1:c.460G>C NP_001341729.1:p.Val154Leu
NM_033507.2:c.463G>C NP_277042.1:p.Val155Leu
NM_033508.2:c.457G>C NP_277043.1:p.Val153Leu
NM_000162.5:c.460G>C MANE Select NP_000153.1:p.Val154Leu
NM_033507.3:c.463G>C NP_277042.1:p.Val155Leu
NM_033508.3:c.457G>C NP_277043.1:p.Val153Leu
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