Canonical Allele Identifier: CA367400669

Gene: GCK

Linked Data

• ClinVar Variation Id: 804855
• ClinVar RCV Id: RCV000992061 ; RCV002463765
• dbSNP Id: rs1583596546
• MyVariant Identifiers: chr7:g.44187378T>C (hg19) ; chr7:g.44147779T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147779T>C , CM000669.2:g.44147779T>C	GRCh38
NC_000007.13:g.44187378T>C , CM000669.1:g.44187378T>C	GRCh37
NC_000007.12:g.44153903T>C	NCBI36
NG_008847.1:g.46645A>G
NG_008847.2:g.55392A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*732A>G	ENSP00000379142.4:n.*732A>G
ENST00000616242.5:c.734A>G	ENSP00000482149.2:p.Glu245Gly
ENST00000345378.7:c.737A>G	ENSP00000223366.2:p.Glu246Gly
ENST00000403799.8:c.734A>G MANE Select	ENSP00000384247.3:p.Glu245Gly
ENST00000671824.1:c.734A>G	ENSP00000500264.1:p.Glu245Gly
ENST00000673284.1:c.734A>G	ENSP00000499852.1:p.Glu245Gly
ENST00000345378.6:c.737A>G	ENSP00000223366.2:p.Glu246Gly
ENST00000395796.7:c.731A>G	ENSP00000379142.3:p.Glu244Gly
ENST00000403799.7:c.734A>G	ENSP00000384247.3:p.Glu245Gly
ENST00000437084.1:c.683A>G	ENSP00000402840.1:p.Glu228Gly
ENST00000616242.4:c.731A>G	ENSP00000482149.1:p.Glu244Gly
NM_000162.3:c.734A>G	NP_000153.1:p.Glu245Gly
NM_033507.1:c.737A>G	NP_277042.1:p.Glu246Gly
NM_033508.1:c.731A>G	NP_277043.1:p.Glu244Gly
XR_927223.1:n.82+31T>C
NM_000162.4:c.734A>G	NP_000153.1:p.Glu245Gly
NM_001354800.1:c.734A>G	NP_001341729.1:p.Glu245Gly
NM_033507.2:c.737A>G	NP_277042.1:p.Glu246Gly
NM_033508.2:c.731A>G	NP_277043.1:p.Glu244Gly
XR_927223.2:n.82+31T>C
NM_000162.5:c.734A>G MANE Select	NP_000153.1:p.Glu245Gly
NM_033507.3:c.737A>G	NP_277042.1:p.Glu246Gly
NM_033508.3:c.731A>G	NP_277043.1:p.Glu244Gly