Canonical Allele Identifier: CA367402811

Gene: GCK

Linked Data

• ClinVar Variation Id: 447394
• ClinVar RCV Id: RCV003988850
• dbSNP Id: rs1554335751
• MyVariant Identifiers: chr7:g.44191938A>G (hg19) ; chr7:g.44152339A>G (hg38)
• PubMed: PMID:12941786 ; PMID:17082186 ; PMID:18370929 ; PMID:18450771

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152339A>G , CM000669.2:g.44152339A>G	GRCh38
NC_000007.13:g.44191938A>G , CM000669.1:g.44191938A>G	GRCh37
NC_000007.12:g.44158463A>G	NCBI36
NG_008847.1:g.42085T>C
NG_008847.2:g.50832T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*293T>C	ENSP00000379142.4:n.*293T>C
ENST00000616242.5:c.295T>C	ENSP00000482149.2:p.Trp99Arg
ENST00000682635.1:n.781T>C
ENST00000345378.7:c.298T>C	ENSP00000223366.2:p.Trp100Arg
ENST00000403799.8:c.295T>C MANE Select	ENSP00000384247.3:p.Trp99Arg
ENST00000671824.1:c.295T>C	ENSP00000500264.1:p.Trp99Arg
ENST00000673284.1:c.295T>C	ENSP00000499852.1:p.Trp99Arg
ENST00000345378.6:c.298T>C	ENSP00000223366.2:p.Trp100Arg
ENST00000395796.7:c.292T>C	ENSP00000379142.3:p.Trp98Arg
ENST00000403799.7:c.295T>C	ENSP00000384247.3:p.Trp99Arg
ENST00000437084.1:c.295T>C	ENSP00000402840.1:p.Trp99Arg
ENST00000616242.4:c.292T>C	ENSP00000482149.1:p.Trp98Arg
NM_000162.3:c.295T>C	NP_000153.1:p.Trp99Arg
NM_033507.1:c.298T>C	NP_277042.1:p.Trp100Arg
NM_033508.1:c.292T>C	NP_277043.1:p.Trp98Arg
NM_000162.4:c.295T>C	NP_000153.1:p.Trp99Arg
NM_001354800.1:c.295T>C	NP_001341729.1:p.Trp99Arg
NM_033507.2:c.298T>C	NP_277042.1:p.Trp100Arg
NM_033508.2:c.292T>C	NP_277043.1:p.Trp98Arg
NM_000162.5:c.295T>C MANE Select	NP_000153.1:p.Trp99Arg
NM_033507.3:c.298T>C	NP_277042.1:p.Trp100Arg
NM_033508.3:c.292T>C	NP_277043.1:p.Trp98Arg