Canonical Allele Identifier: CA367402154
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804846
ClinVar RCV Id: RCV000992050 RCV002464034
dbSNP Id: rs1583601365
MyVariant Identifiers: chr7:g.44190651G>T (hg19) chr7:g.44151052G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151052G>T , CM000669.2:g.44151052G>T GRCh38
NC_000007.13:g.44190651G>T , CM000669.1:g.44190651G>T GRCh37
NC_000007.12:g.44157176G>T NCBI36
NG_008847.1:g.43372C>A
NG_008847.2:g.52119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*385C>A ENSP00000379142.4:n.*385C>A
ENST00000616242.5:c.387C>A ENSP00000482149.2:p.Cys129Ter
ENST00000682635.1:n.873C>A
ENST00000345378.7:c.390C>A ENSP00000223366.2:p.Cys130Ter
ENST00000403799.8:c.387C>A MANE Select ENSP00000384247.3:p.Cys129Ter
ENST00000671824.1:c.387C>A ENSP00000500264.1:p.Cys129Ter
ENST00000673284.1:c.387C>A ENSP00000499852.1:p.Cys129Ter
ENST00000345378.6:c.390C>A ENSP00000223366.2:p.Cys130Ter
ENST00000395796.7:c.384C>A ENSP00000379142.3:p.Cys128Ter
ENST00000403799.7:c.387C>A ENSP00000384247.3:p.Cys129Ter
ENST00000437084.1:c.364-28C>A ENSP00000402840.1:n.364-28C>A
ENST00000616242.4:c.384C>A ENSP00000482149.1:p.Cys128Ter
NM_000162.3:c.387C>A NP_000153.1:p.Cys129Ter
NM_033507.1:c.390C>A NP_277042.1:p.Cys130Ter
NM_033508.1:c.384C>A NP_277043.1:p.Cys128Ter
NM_000162.4:c.387C>A NP_000153.1:p.Cys129Ter
NM_001354800.1:c.387C>A NP_001341729.1:p.Cys129Ter
NM_033507.2:c.390C>A NP_277042.1:p.Cys130Ter
NM_033508.2:c.384C>A NP_277043.1:p.Cys128Ter
NM_000162.5:c.387C>A MANE Select NP_000153.1:p.Cys129Ter
NM_033507.3:c.390C>A NP_277042.1:p.Cys130Ter
NM_033508.3:c.384C>A NP_277043.1:p.Cys128Ter
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