Canonical Allele Identifier: CA367400460

Gene: GCK

Linked Data

• ClinVar Variation Id: 2136513
• ClinVar RCV Id: RCV003037215
• MyVariant Identifiers: chr7:g.44187278G>C (hg19) ; chr7:g.44147679G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147679G>C , CM000669.2:g.44147679G>C	GRCh38
NC_000007.13:g.44187278G>C , CM000669.1:g.44187278G>C	GRCh37
NC_000007.12:g.44153803G>C	NCBI36
NG_008847.1:g.46745C>G
NG_008847.2:g.55492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*832C>G	ENSP00000379142.4:n.*832C>G
ENST00000616242.5:c.834C>G	ENSP00000482149.2:p.Asp278Glu
ENST00000345378.7:c.837C>G	ENSP00000223366.2:p.Asp279Glu
ENST00000403799.8:c.834C>G MANE Select	ENSP00000384247.3:p.Asp278Glu
ENST00000671824.1:c.834C>G	ENSP00000500264.1:p.Asp278Glu
ENST00000673284.1:c.834C>G	ENSP00000499852.1:p.Asp278Glu
ENST00000345378.6:c.837C>G	ENSP00000223366.2:p.Asp279Glu
ENST00000395796.7:c.831C>G	ENSP00000379142.3:p.Asp277Glu
ENST00000403799.7:c.834C>G	ENSP00000384247.3:p.Asp278Glu
ENST00000437084.1:c.783C>G	ENSP00000402840.1:p.Asp261Glu
ENST00000616242.4:c.831C>G	ENSP00000482149.1:p.Asp277Glu
NM_000162.3:c.834C>G	NP_000153.1:p.Asp278Glu
NM_033507.1:c.837C>G	NP_277042.1:p.Asp279Glu
NM_033508.1:c.831C>G	NP_277043.1:p.Asp277Glu
XR_927223.1:n.13G>C
NM_000162.4:c.834C>G	NP_000153.1:p.Asp278Glu
NM_001354800.1:c.834C>G	NP_001341729.1:p.Asp278Glu
NM_033507.2:c.837C>G	NP_277042.1:p.Asp279Glu
NM_033508.2:c.831C>G	NP_277043.1:p.Asp277Glu
XR_927223.2:n.13G>C
NM_000162.5:c.834C>G MANE Select	NP_000153.1:p.Asp278Glu
NM_033507.3:c.837C>G	NP_277042.1:p.Asp279Glu
NM_033508.3:c.831C>G	NP_277043.1:p.Asp277Glu